Sustainable living. learning. researching

Medical University of Graz

Forschung

2017

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA (2017): Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies OXID MED CELL LONGEV. 2017; 7202589 [Fulltext][PubMed]
Gaksch, L; Kashofer, K; Heitzer, E; Quehenberger, F; Daga, S; Hofer, S; Halbwedl, I; Graf, R; Krisper, N; Hoefler, G; Zebisch, A; Sill, H; Wölfler, A (2017): Residual disease detection using targeted parallel sequencing predicts relapse in cytogenetically normal acute myeloid leukemia. Am J Hematol. 2017; [Fulltext][PubMed]
Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; Strohal, R; Ulz, P; Crumrine, D; Menon, GK; Blunder, S; Schmuth, M; Müller, T; Smith, H; Mills, K; Kroisel, P; Janecke, AR; Gissen, P (2017): Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. J Invest Dermatol. 2017; 137(4):845-854 [Fulltext][PubMed]
Harripaul, R; Vasli, N; Mikhailov, A; Rafiq, MA; Mittal, K; Windpassinger, C; Sheikh, TI; Noor, A; Mahmood, H; Downey, S; Johnson, M; Vleuten, K; Bell, L; Ilyas, M; Khan, FS; Khan, V; Moradi, M; Ayaz, M; Naeem, F; Heidari, A; Ahmed, I; Ghadami, S; Agha, Z; Zeinali, S; Qamar, R; Mozhdehipanah, H; John, P; Mir, A; Ansar, M; French, L; Ayub, M; Vincent, JB (2017): Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2017; [Fulltext][PubMed]
Hasenoehrl, C; Feuersinger, D; Sturm, EM; Bärnthaler, T; Heitzer, E; Graf, R; Grill, M; Pichler, M; Beck, S; Butcher, L; Thomas, D; Ferreirós, N; Schuligoi, R; Schweiger, C; Haybaeck, J; Schicho, R (2017): G protein-coupled receptor GPR55 promotes colorectal cancer and has opposing effects to cannabinoid receptor 1. Int J Cancer. 2017; [Fulltext][PubMed]
Heitzer, E; Sunitsch, S; Gilg, MM; Lohberger, B; Rinner, B; Kashofer, K; Stündl, N; Ulz, P; Szkandera, J; Leithner, A; Liegl-Atzwanger, B (2017): Expanded molecular profiling of myxofibrosarcoma reveals potentially actionable targets. Mod Pathol. 2017; [Fulltext][PubMed]
Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C (2017): Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions HUM MUTAT. 2017; 38(3): 275-278. [Fulltext][PubMed]
Jungst, C; Stadlbauer, V; Reichert, MC; Zimmer, V; Weber, SN; Ofner-Ziegenfuss, L; Voigtlander, T; Spindelbock, W; Fickert, P; Kirchner, GI; Lammert, F; Lankisch, TO; Krawczyk, M (2017): NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients SCI REP-UK. 2017; 7: 7026 [Fulltext]
Khan, MA; Windpassinger, C; Ali, MZ; Zubair, M; Gul, H; Abbas, S; Khan, S; Badar, M; Mohammad, RM; Nawaz, Z (2017): Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene. J Genet. 2017; 96(2): 383-387. [Fulltext][PubMed]
Kroisel, PM; Häusler, M; Klaritsch, P; Karpf, E; Zebedin, D; Tiran, B; Pertl, B; Wagner, K (2017): Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound. Lancet. 2017; 389(10081): 1857-1858. [Fulltext][PubMed]
Perakis, S; Auer, M; Belic, J; Heitzer, E (2017): Advances in Circulating Tumor DNA Analysis. Adv Clin Chem. 2017; 80:73-153 [Fulltext][PubMed]
Redin, C; Brand, H; Collins, RL; Kammin, T; Mitchell, E; Hodge, JC; Hanscom, C; Pillalamarri, V; Seabra, CM; Abbott, MA; Abdul-Rahman, OA; Aberg, E; Adley, R; Alcaraz-Estrada, SL; Alkuraya, FS; An, Y; Anderson, MA; Antolik, C; Anyane-Yeboa, K; Atkin, JF; Bartell, T; Bernstein, JA; Beyer, E; Blumenthal, I; Bongers, EM; Brilstra, EH; Brown, CW; Brüggenwirth, HT; Callewaert, B; Chiang, C; Corning, K; Cox, H; Cuppen, E; Currall, BB; Cushing, T; David, D; Deardorff, MA; Dheedene, A; D'Hooghe, M; de Vries, BB; Earl, DL; Ferguson, HL; Fisher, H; FitzPatrick, DR; Gerrol, P; Giachino, D; Glessner, JT; Gliem, T; Grady, M; Graham, BH; Griffis, C; Gripp, KW; Gropman, AL; Hanson-Kahn, A; Harris, DJ; Hayden, MA; Hill, R; Hochstenbach, R; Hoffman, JD; Hopkin, RJ; Hubshman, MW; Innes, AM; Irons, M; Irving, M; Jacobsen, JC; Janssens, S; Jewett, T; Johnson, JP; Jongmans, MC; Kahler, SG; Koolen, DA; Korzelius, J; Kroisel, PM; Lacassie, Y; Lawless, W; Lemyre, E; Leppig, K; Levin, AV; Li, H; Li, H; Liao, EC; Lim, C; Lose, EJ; Lucente, D; Macera, MJ; Manavalan, P; Mandrile, G; Marcelis, CL; Margolin, L; Mason, T; Masser-Frye, D; McClellan, MW; Mendoza, CJ; Menten, B; Middelkamp, S; Mikami, LR; Moe, E; Mohammed, S; Mononen, T; Mortenson, ME; Moya, G; Nieuwint, AW; Ordulu, Z; Parkash, S; Pauker, SP; Pereira, S; Perrin, D; Phelan, K; Aguilar, RE; Poddighe, PJ; Pregno, G; Raskin, S; Reis, L; Rhead, W; Rita, D; Renkens, I; Roelens, F; Ruliera, J; Rump, P; Schilit, SL; Shaheen, R; Sparkes, R; Spiegel, E; Stevens, B; Stone, MR; Tagoe, J; Thakuria, JV; van Bon, BW; van de Kamp, J; van Der Burgt, I; van Essen, T; van Ravenswaaij-Arts, CM; van Roosmalen, MJ; Vergult, S; Volker-Touw, CM; Warburton, DP; Waterman, MJ; Wiley, S; Wilson, A; Yerena-de Vega, MC; Zori, RT; Levy, B; Brunner, HG; de Leeuw, N; Kloosterman, WP; Thorland, EC; Morton, CC; Gusella, JF; Talkowski, ME (2017): The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017; 49(1): 36-45. [Fulltext][PubMed]
Rinner, B; Gandolfi, G; Meditz, K; Frisch, MT; Wagner, K; Ciarrocchi, A; Torricelli, F; Koivuniemi, R; Niklander, J; Liegl-Atzwanger, B; Lohberger, B; Heitzer, E; Ghaffari-Tabrizi-Wizsy, N; Zweytick, D; Zalaudek, I (2017): MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line. Sci Rep. 2017; 7(1): 2098-2098. [Fulltext][PubMed]
Shebl, O; Sifferlinger, I; Habelsberger, A; Oppelt, P; Mayer, RB; Petek, E; Ebner, T (2017): Oocyte competence in in vitro fertilization and intracytoplasmic sperm injection patients suffering from endometriosis and its possible association with subsequent treatment outcome: a matched case-control study. Acta Obstet Gynecol Scand. 2017; 96(6):736-744 [Fulltext][PubMed]
Speicher, MR (2017): Searching for cancer vulnerabilities amid genetic chaos. Genome Biol. 2017; 18(1):147-147 [Fulltext][PubMed]
Stiegelbauer, V; Vychytilova-Faltejskova, P; Karbiener, M; Pehserl, AM; Reicher, A; Resel, M; Heitzer, E; Ivan, C; Bullock, M; Ling, H; Deutsch, A; Wulf-Goldenberg, A; Adiprasito, JB; Stoeger, H; Haybaeck, J; Svoboda, M; Stotz, M; Hoefler, G; Slaby, O; Calin, GA; Gerger, A; Pichler, M (2017): miR-196b-5p Regulates Colorectal Cancer Cell Migration and Metastases through Interaction with HOXB7 and GALNT5. Clin Cancer Res. 2017; 23(17):5255-5266 [Fulltext][PubMed]
Tiran, V; Lindenmann, J; Brcic, L; Heitzer, E; Stanzer, S; Tabrizi-Wizsy, NG; Stacher, E; Stoeger, H; Popper, HH; Balic, M; Dandachi, N (2017): Primary patient-derived lung adenocarcinoma cell culture challenges the association of cancer stem cells with epithelial-to-mesenchymal transition. Sci Rep. 2017; 7(1):10040-10040 [Fulltext][PubMed]
Tiran, V; Stanzer, S; Heitzer, E; Meilinger, M; Rossmann, C; Lax, S; Tsybrovskyy, O; Dandachi, N; Balic, M (2017): Genetic profiling of putative breast cancer stem cells from malignant pleural effusions. PLoS One. 2017; 12(4):e0175223-e0175223 [Fulltext][PubMed]
Ulz, P; Heitzer, E; Geigl, JB; Speicher, MR (2017): Patient monitoring through liquid biopsies using circulating tumor DNA. Int J Cancer. 2017; 141(5):887-896 [Fulltext][PubMed]
Windpassinger, C; Piard, J; Bonnard, C; Alfadhel, M; Lim, S; Bisteau, X; Blouin, S; Ali, NB; Ng, AYJ; Lu, H; Tohari, S; Talib, SZA; van Hul, N; Caldez, MJ; Van Maldergem, L; Yigit, G; Kayserili, H; Youssef, SA; Coppola, V; de Bruin, A; Tessarollo, L; Choi, H; Rupp, V; Roetzer, K; Roschger, P; Klaushofer, K; Altmüller, J; Roy, S; Venkatesh, B; Ganger, R; Grill, F; Ben Chehida, F; Wollnik, B; Altunoglu, U; Al Kaissi, A; Reversade, B; Kaldis, P (2017): CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am J Hum Genet. 2017; 101(3):391-403 [Fulltext][PubMed]
Lal, R; Lind, K; Heitzer, E; Ulz, P; Aubell, K; Kashofer, K; Middeke, JM; Thiede, C; Schulz, E; Rosenberger, A; Hofer, S; Feilhauer, B; Rinner, B; Svendova, V; Schimek, MG; Rücker, FG; Hoefler, G; Döhner, K; Zebisch, A; Wölfler, A; Sill, H (2017): Somatic TP53 mutations characterize preleukemic stem cells in acute myeloid leukemia. Blood. 2017; 129(18):2587-2591 [Fulltext][PubMed]
Moser, T; Ulz, P; Zhou, Q; Perakis, S; Geigl, JB; Speicher, MR; Heitzer, E (2017): Single-Stranded DNA Library Preparation Does Not Preferentially Enrich Circulating Tumor DNA. Clin Chem. 2017; 63(10):1656-1659 [Fulltext][PubMed]
Painsi, C; Aubell, K; Wolf, P; Hügel, R; Lange-Asschenfeldt, B (2017): A case of Schöpf-Schulz-Passarge syndrome caused by c.1135C>T WNT10A missense mutation. J Dtsch Dermatol Ges. 2017; 15(4): 455-457. [Fulltext][PubMed]
Painsi, C; Aubell, K; Wolf, P; Hügel, R; Lange-Asschenfeldt, B (2017): Ein Fall von Schöpf-Schulz-Passarge-Syndrom verursacht durch eine c.1135C>T WNT10A Missense-Mutation. J DTSCH DERMATOL GES. 2017; 15(4): 454-456. [Fulltext][PubMed]
Robier, C; Piribauer, M; Beham-Schmid, C; Aubell, K; Neubauer, M (2017): IgD-lambda myeloma with extensive free light-chain excretion: a diagnostic pitfall in the identification of monoclonal gammopathies CLIN CHEM LAB MED. 2017; 55(7): E137-E139. [Fulltext]
Robier, C; Piribauer, M; Beham-Schmid, C; Aubell, K; Neubauer, M (2017): IgD-λ myeloma with extensive free light-chain excretion: a diagnostic pitfall in the identification of monoclonal gammopathies. Clin Chem Lab Med. 2017; 55(7):e137-e139-e137-e139 [Fulltext][PubMed]
Smolle, MA; Heitzer, E; Geigl, JB; Al Kaissi, A; Liegl-Atzwanger, B; Seidel, MG; Holzer, LA; Leithner, A (2017): A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma PEDIATR BLOOD CANCER. 2017; 64(10): e26522 [Fulltext][PubMed]
Stampfer, L; Sperl, D; Fickert, P; Lackner, H; Sovinz, P; Ofner-Ziegenfuß, L; Strenger, V; Urban, C; Jahnel, J; Seidel, MG (2017): Life-threatening sinusoidal obstruction syndrome after high-dose chemotherapy linked to compound heterozygous mutations in ABCB11. Pediatr Blood Cancer. 2017; [Fulltext][PubMed]
Perakis, S; Speicher, MR; (2017): Emerging concepts in liquid biopsies. BMC MED. 2017; 15: [Fulltext][PubMed]
Gaksch, L; Kashofer, K; Heitzer, E; Daga, S; Hofer, S; Krisper, N; Hofler, G; Zebisch, A; Sill, H; Wolfler, A (2017): Persistence of non-DNMT3A mutations predicts relapse in cytogenetically normal AML ONCOL RES TREAT. 2017; 40: 140-141.
Jungst, C; Stadlbauer, V; Reichert, M; Weber, S; Ofner-Ziegenfuss, L; Voigtlander, T; Spindelbock, W; Fickert, P; Kirchner, G; Lammert, F; Lankisch, TO; Krawczyk, M (2017): NOD2 variants as novel genetic risk factors for secondary sclerosing cholangitis in critically ill patients J HEPATOL. 2017; 66(1): S358-S358.
Moser, T; Fertl, E; Koppi, S; Seifert-Held, T; Safoschnik, G; Bsteh, G; Heller, T; Rommer, P; Baumgartner, A; Berger, T; Sellner, J (2017): Natalizumab-related progressive multifocal leukoencephalopathy in Austria: An observational nationwide study EUR J NEUROL. 2017; 24: 38-38.

2016

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Al-Zoughbi, W; Pichler, M; Gorkiewicz, G; Guertl-Lackner, B; Haybaeck, J; Jahn, SW; Lackner, C; Liegl-Atzwanger, B; Popper, H; Schauer, S; Nusshold, E; Kindt, AS; Trajanoski, Z; Speicher, MR; Haemmerle, G; Zimmermann, R; Zechner, R; Vesely, PW; Hoefler, G (2016): Loss of adipose triglyceride lipase is associated with human cancer and induces mouse pulmonary neoplasia. Oncotarget. 2016; 13(5): [Fulltext][PubMed]
Belic, J; Koch, M; Ulz, P; Auer, M; Gerhalter, T; Mohan, S; Fischereder, K; Petru, E; Bauernhofer, T; Geigl, JB; Speicher, MR; Heitzer, E (2016): mFast-SeqS as a Monitoring and Pre-screening Tool for Tumor-Specific Aneuploidy in Plasma DNA. Adv Exp Med Biol. 2016; 924: 147-155. [Fulltext][PubMed]
Bengesser, SA; Reininghaus, EZ; Lackner, N; Birner, A; Fellendorf, FT; Platzer, M; Kainzbauer, N; Tropper, B; Hörmanseder, C; Queissner, R; Kapfhammer, HP; Wallner-Liebmann, SJ; Fuchs, R; Petek, E; Windpassinger, C; Schnalzenberger, M; Reininghaus, B; Evert, B; Waha, A (2016): Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL. World J Biol Psychiatry. 2016; 1-9 [Fulltext][PubMed]
Bettermann, K; Mehta, AK; Hofer, EM; Wohlrab, C; Golob-Schwarzl, N; Svendova, V; Schimek, MG; Stumptner, C; Thuringer, A; Speicher, MR; Lackner, C; Zatloukal, K; Denk, H; Haybaeck, J (2016): Keratin 18-deficiency results in steatohepatitis and liver tumors in old mice: A model of steatohepatitis-associated liver carcinogenesis ONCOTARGET. 2016; 7(45): 73309-73322. [Fulltext][PubMed]
Ebner, T; Tritscher, K; Mayer, RB; Oppelt, P; Duba, HC; Maurer, M; Schappacher-Tilp, G; Petek, E; Shebl, O (2016): Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender. J Assist Reprod Genet. 2016; 33(1): 49-57. [Fulltext][PubMed]
Gellner, V; Tomazic, PV; Lohberger, B; Meditz, K; Heitzer, E; Mokry, M; Koele, W; Leithner, A; Liegl-Atzwanger, B; Rinner, B (2016): Establishment of clival chordoma cell line MUG-CC1 and lymphoblastoid cells as a model for potential new treatment strategies. Sci Rep. 2016; 6(4):24195-24195 [Fulltext][PubMed]
Heitzer, E; Ulz, P; Geigl, JB (2016): Circulating tumor DNA as liquid biopsy for cancer BIOCHIM CLIN. 2016; 40(3): 270-281. [Fulltext]
Juch, H; Lupattelli, A; Ystrom, E; Verheyen, S; Nordeng, H (2016): Medication adherence among pregnant women with hypothyroidism-missed opportunities to improve reproductive health? A cross-sectional, web-based study. Patient Educ Couns. 2016; 99(10):1699-1707 [Fulltext][PubMed]
Khan, MA; Mohan, S; Zubair, M; Windpassinger, C (2016): Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. BMC Med Genet. 2016; 17(6): 10-10. [Fulltext][PubMed]
Krause, I; Pohler, U; Grosse, S; Shebl, O; Petek, E; Chandra, A; Ebner, T (2016): Characterization of the injection funnel during intracytoplasmic sperm injection reflects cytoplasmic maturity of the oocyte. Fertil Steril. 2016; 106(5): 1101-1106. [Fulltext][PubMed]
Liegl-Atzwanger, B; Heitzer, E; Flicker, K; Müller, S; Ulz, P; Saglam, O; Tavassoli, F; Devouassoux-Shisheboran, M; Geigl, J; Moinfar, F (2016): Exploring chromosomal abnormalities and genetic changes in uterine smooth muscle tumors. Mod Pathol. 2016; 29(10): 1262-1277. [Fulltext][PubMed]
Mlecnik, B; Bindea, G; Angell, HK; Maby, P; Angelova, M; Tougeron, D; Church, SE; Lafontaine, L; Fischer, M; Fredriksen, T; Sasso, M; Bilocq, AM; Kirilovsky, A; Obenauf, AC; Hamieh, M; Berger, A; Bruneval, P; Tuech, JJ; Sabourin, JC; Le Pessot, F; Mauillon, J; Rafii, A; Laurent-Puig, P; Speicher, MR; Trajanoski, Z; Michel, P; Sesboüe, R; Frebourg, T; Pagès, F; Valge-Archer, V; Latouche, JB; Galon, J (2016): Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability. Immunity. 2016; 44(3): 698-711. [Fulltext][PubMed]
Mlecnik, B; Bindea, G; Kirilovsky, A; Angell, HK; Obenauf, AC; Tosolini, M; Church, SE; Maby, P; Vasaturo, A; Angelova, M; Fredriksen, T; Mauger, S; Waldner, M; Berger, A; Speicher, MR; Pagès, F; Valge-Archer, V; Galon, J (2016): The tumor microenvironment and Immunoscore are critical determinants of dissemination to distant metastasis. Sci Transl Med. 2016; 8(327): 327ra26-327ra26. [Fulltext][PubMed]
Rezania, S; Kammerer, S; Li, C; Steinecker-Frohnwieser, B; Gorischek, A; DeVaney, TT; Verheyen, S; Passegger, CA; Tabrizi-Wizsy, NG; Hackl, H; Platzer, D; Zarnani, AH; Malle, E; Jahn, SW; Bauernhofer, T; Schreibmayer, W (2016): Overexpression of KCNJ3 gene splice variants affects vital parameters of the malignant breast cancer cell line MCF-7 in an opposing manner. BMC Cancer. 2016; 16:628-628 [Fulltext][PubMed]
Schäfer, C; Paprotka, T; Heitzer, E; Eccleston, M; Noe, J; Holdenrieder, S; Diehl, F; Thierry, A (2016): Academia Meets Industry. Adv Exp Med Biol. 2016; 924: 201-215. [Fulltext][PubMed]
Tomaschitz, A; Verheyen, N; Meinitzer, A; Pieske, B; Belyavskiy, E; Brussee, H; Haas, J; März, W; Pieske-Kraigher, E; Verheyen, S; Ofner-Ziegenfuss, L; Hartaigh, BÓ; Schwetz, V; Aberer, F; Grübler, M; Lang, F; Alesutan, I; Voelkl, J; Gaksch, M; Horina, JH; Dimai, HP; Rus-Machan, J; Stiegler, C; Ritz, E; Fahrleitner-Pammer, A; Pilz, S (2016): Effect of eplerenone on parathyroid hormone levels in patients with primary hyperparathyroidism: results from the EPATH randomized, placebo-controlled trial. J Hypertens. 2016; 34(7):1347-1356 [Fulltext][PubMed]
Ulz, P; Belic, J; Graf, R; Auer, M; Lafer, I; Fischereder, K; Webersinke, G; Pummer, K; Augustin, H; Pichler, M; Hoefler, G; Bauernhofer, T; Geigl, JB; Heitzer, E; Speicher, MR (2016): Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer. Nat Commun. 2016; 7(9):12008-12008 [Fulltext][PubMed]
Ulz, P; Gerger, A; Belic, J; Heitzer, E (2016): Potentials, challenges and limitations of a molecular characterization of circulating tumor DNA for the management of cancer patients LABORATORIUMSMEDIZIN. 2016; 40(5): 323-334. [Fulltext]
Ulz, P; Heitzer, E; Speicher, MR (2016): Co-occurrence of MYC amplification and TP53 mutations in human cancer. Nat Genet. 2016; 48(2): 104-106. [Fulltext][PubMed]
Ulz, P; Thallinger, GG; Auer, M; Graf, R; Kashofer, K; Jahn, SW; Abete, L; Pristauz, G; Petru, E; Geigl, JB; Heitzer, E; Speicher, MR (2016): Inferring expressed genes by whole-genome sequencing of plasma DNA. Nat Genet. 2016; 48(10):1273-1278 [Fulltext][PubMed]
van de Nes, J; Gessi, M; Sucker, A; Möller, I; Stiller, M; Horn, S; Scholz, SL; Pischler, C; Stadtler, N; Schilling, B; Zimmer, L; Hillen, U; Scolyer, RA; Buckland, ME; Lauriola, L; Pietsch, T; Waha, A; Schadendorf, D; Murali, R; Griewank, KG (2016): Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system. J Neurooncol. 2016; 127(3):435-444 [Fulltext][PubMed]
Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR (2016): Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. Circ Cardiovasc Genet. 2016; 9(2): 130-135. [Fulltext][PubMed]
Gambichler, T; Skrygan, M; Reininghaus, L; Schulze, HJ; Schaller, J; Hessam, S; Colato, C; Girolomoni, G; Heitzer, E (2016): Lysyl oxidase-like 2 promoter hypermethylation in mid-dermal elastolysis. Br J Dermatol. 2016; 175(6):1354-1356 [Fulltext][PubMed]
Zebisch, A; Lal, R; Müller, M; Lind, K; Kashofer, K; Girschikofsky, M; Fuchs, D; Wölfler, A; Geigl, JB; Sill, H (2016): Acute myeloid leukemia with TP53 germ line mutations. Blood. 2016; 128(18):2270-2272 [Fulltext][PubMed]
Heitzer, E; Ulz, P; Geigl, JB; Speicher, MR (2016): Non-invasive detection of genome-wide somatic copy number alterations by liquid biopsies. Mol Oncol. 2016; 10(3):494-502 [Fulltext][PubMed]
Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM (2016): The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations. Ann Hum Genet. 2016; 80(6): 342-368. [Fulltext][PubMed]
Pantel, K; Speicher, MR (2016): The biology of circulating tumor cells. Oncogene. 2016; 35(10):1216-1224 [Fulltext][PubMed]
Seles, M; Hutterer, GC; Kiesslich, T; Pummer, K; Berindan-Neagoe, I; Perakis, S; Schwarzenbacher, D; Stotz, M; Gerger, A; Pichler, M (2016): Current Insights into Long Non-Coding RNAs in Renal Cell Carcinoma. Int J Mol Sci. 2016; 17(4):573-573 [Fulltext][PubMed]
Speicher, MR; Gerger, A; Hoefler, G (2016): Liquid biopsies. A multidisciplinary challenge for human geneticists, oncologists, and pathologists MED GENET-BERLIN. 2016; 28(2): 245-250. [Fulltext]
Ulz, P; Geigl, JB; Speicher, MR; Heitzer, E (2016): Latest technological developments in the analysis of circulating tumor DNA MED GENET-BERLIN. 2016; 28(2): 234-244. [Fulltext]
Belic, J; Heitzer, E; Ulz, P; Auer, M; Fischereder, K; Bauernhofer, T; Geigl, JB; Speicher, MR (2016): Analysis of ctDNA using the mFastSeqS and plasma-Seq methods for screening and therapy monitoring in prostate cancer patients CLIN CANCER RES. 2016; 22: -Meeting of the American-Association-for-Cancer-Research (AACR) Precision Medicine Series - Integrating Clinical Genomics and Cancer Therapy; JUN 13-16, 2015; Salt Lake, UT.
Gaksch, L; Kashofer, K; Heitzer, E; Daga, S; Hofer, S; Krisper, N; Höfler, G; Zebisch, A; Sill, H; Wölfler A (2016): Persitence of non-DNMT3A mutations predicts relapse in cytogenetically normal AML. Oncol Res Treat 2016. 2016; 39(suppl3):140--Jahrestagung DGHO; OCT 14-18,2016; Leipzig. (ISBN: 2296-5270 )
Jungst, C; Stadlbauer, V; Reichert, MC; Ofner-Ziegenfuss, L; Voigtlander, T; Spindelboeck, W; Fickert, P; Kirchner, GI; Lammert, F; Lankisch, T; Krawczyk, M (2016): NOD2 confers risk for sclerosing cholangitis in critically ill patients: genetic study in two independent cohorts HEPATOLOGY. 2016; 63(1 SUPP):191A-192A.-67th Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD); NOV 11-15, 2016; Boston, MA.
Lieal-Atzwanger, B; Heitzer, E; Flicker, K; Muller, S; Ulz, P; Saglanm, O; Tavassoli, F; Devouassoux-Shisheboran, M; Cieigl, J; Moinfar, F (2016): Exploring chromosomal abnormalities and genetic changes in uterine smooth muscle tumours VIRCHOWS ARCH. .. 2016; 469: S18-S19.
Murali, R; van de Nes, J; Gessi, M; Sucker, A; Moeller, I; Stiller, M; Horn, S; Scholz, S; Pischler, C; Stadler, N; Schilling, B; Zimmer, L; Hillen, U; Scolyer, RA; Buckland, M; Lauriola, L; Pietsch, T; Waha, A; Schadendorf, D; Griewank, K (2016): Targeted Next Generation Sequencing Reveals Unique Mutation Profile of Primary Melanocytic Tumors of the Central Nervous System MODERN PATHOL. .. 2016; 29: 434A-434A.-105th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology; MAR 12-18, 2016; Seattle, WA.
Murali, R; van de Nes, J; Gessi, M; Sucker, A; Moeller, I; Stiller, M; Horn, S; Scholz, S; Pischler, C; Stadler, N; Schilling, B; Zimmer, L; Hillen, U; Scolyer, RA; Buckland, M; Lauriola, L; Pietsch, T; Waha, A; Schadendorf, D; Griewank, K (2016): Targeted Next Generation Sequencing Reveals Unique Mutation Profile of Primary Melanocytic Tumors of the Central Nervous System LAB INVEST. .. 2016; 96: 434A-434A.-105th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology; MAR 12-18, 2016; Seattle, WA.
Schwach, G; Wizsy, NGT; Tam-Amersdorfer, C; Meier-Allard, N; Siddiqui, ZG; Hoeger, H; Haas, OA; Speicher, M; Niederle, B; Pfragner, R (2016): Medullary Thyroid Carcinoma Cell Lines - An Update NEUROENDOCRINOLOGY. 2016; 103: 13-13.

2015

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Addis, L; Ahn, JW; Dobson, R; Dixit, A; Ogilvie, CM; Pinto, D; Vaags, AK; Coon, H; Chaste, P; Wilson, S; Parr, JR; Andrieux, J; Lenne, B; Tumer, Z; Leuzzi, V; Aubell, K; Koillinen, H; Curran, S; Marshall, CR; Scherer, SW; Strug, LJ; Collier, DA; Pal, DK (2015): Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Hum Mutat. 2015; 36(9): 842-850. [Fulltext][PubMed]
Aoude, LG; Heitzer, E; Johansson, P; Gartside, M; Wadt, K; Pritchard, AL; Palmer, JM; Symmons, J; Gerdes, AM; Montgomery, GW; Martin, NG; Tomlinson, I; Kearsey, S; Hayward, NK (2015): POLE mutations in families predisposed to cutaneous melanoma. Fam Cancer. 2015; 14(4): 621-628. [Fulltext][PubMed]
Arbeithuber, B; Betancourt, AJ; Ebner, T; Tiemann-Boege, I (2015): Crossovers are associated with mutation and biased gene conversion at recombination hotspots P NATL ACAD SCI USA. 2015; 112(7): 2109-2114. [Fulltext][PubMed]
Belic, J; Koch, M; Ulz, P; Auer, M; Gerhalter, T; Mohan, S; Fischereder, K; Petru, E; Bauernhofer, T; Geigl, JB; Speicher, MR; Heitzer, E (2015): Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach. Clin Chem. 2015; 61(6): 838-849. [Fulltext][PubMed]
Ebner, T; Oppelt, P; Wöber, M; Staples, P; Mayer, RB; Sonnleitner, U; Bulfon-Vogl, S; Gruber, I; Haid, AE; Shebl, O (2015): Treatment with Ca2+ ionophore improves embryo development and outcome in cases with previous developmental problems: a prospective multicenter study. Hum Reprod. 2015; 30(1): 97-102. [Fulltext][PubMed]
Flicker, K; Smolle, E; Haybaeck, J; Moinfar, F (2015): Genomic characterization of endometrial stromal sarcomas with array comparative genomic hybridization. Exp Mol Pathol. 2015; 98(3): 367-374. [Fulltext][PubMed]
Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB (2015): Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Hum Mol Genet. 2015; 24(20): 5697-5710. [Fulltext][PubMed]
Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D (2015): Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet. 2015; 23(5): 633-638. [Fulltext][PubMed]
Kurath-Koller, S; Resch, B; Kraschl, R; Windpassinger, C; Eber, E (2015): Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature. AJP Rep. 2015; 5(1): e53-e59. [Fulltext][PubMed]
Li, C; Rezania, S; Kammerer, S; Sokolowski, A; Devaney, T; Gorischek, A; Jahn, S; Hackl, H; Groschner, K; Windpassinger, C; Malle, E; Bauernhofer, T; Schreibmayer, W (2015): Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line. Sci Rep. 2015; 5:8364-8364 [Fulltext][PubMed]
Lin, AP; Abbas, S; Kim, SW; Ortega, M; Bouamar, H; Escobedo, Y; Varadarajan, P; Qin, Y; Sudderth, J; Schulz, E; Deutsch, A; Mohan, S; Ulz, P; Neumeister, P; Rakheja, D; Gao, X; Hinck, A; Weintraub, ST; DeBerardinis, RJ; Sill, H; Dahia, PL; Aguiar, RC (2015): D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2. Nat Commun. 2015; 6(7):7768-7768 [Fulltext][PubMed]
Litscher, D; Wang, G; Gaischek, I; Wang, L; Wallner-Liebmann, S; Petek, E (2015): Yellow laser acupuncture - A new option for prevention and early intervention of lifestyle-related diseases: A randomized, placebo-controlled trial in volunteers. Laser Ther. 2015; 24(1): 53-61. [Fulltext][PubMed]
Marschik, PB; Soloveichick, M; Windpassinger, C; Einspieler, C (2015): General movements in genetic disorders: A first look into Cornelia de Lange syndrome. Dev Neurorehabil. 2015; 18(4): 280-282. [Fulltext][PubMed]
Meena, JK; Cerutti, A; Beichler, C; Morita, Y; Bruhn, C; Kumar, M; Kraus, JM; Speicher, MR; Wang, ZQ; Kestler, HA; d'Adda di Fagagna, F; Günes, C; Rudolph, KL (2015): Telomerase abrogates aneuploidy-induced telomere replication stress, senescence and cell depletion. EMBO J. 2015; 34(10): 1371-1384. [Fulltext][PubMed]
Murali, R; Chandramohan, R; Möller, I; Scholz, SL; Berger, M; Huberman, K; Viale, A; Pirun, M; Socci, ND; Bouvier, N; Bauer, S; Artl, M; Schilling, B; Schimming, T; Sucker, A; Schwindenhammer, B; Grabellus, F; Speicher, MR; Schaller, J; Hillen, U; Schadendorf, D; Mentzel, T; Cheng, DT; Wiesner, T; Griewank, KG (2015): Targeted massively parallel sequencing of angiosarcomas reveals frequent activation of the mitogen activated protein kinase pathway. Oncotarget. 2015; 6(34): 36041-36052. [Fulltext][PubMed]
Nerstheimer, S; Tauscher, P; Petek, E; Schappacher-Tilp, G (2015): HLA-frequencies of Austrian umbilical cord blood samples. Hum Immunol. 2015; 76(11): 863-867. [Fulltext][PubMed]
Rafiq, MA; Leblond, CS; Saqib, MA; Vincent, AK; Ambalavanan, A; Khan, FS; Ayaz, M; Shaheen, N; Spiegelman, D; Ali, G; Amin-ud-Din, M; Laurent, S; Mahmood, H; Christian, M; Ali, N; Fennell, A; Nanjiani, Z; Egger, G; Caron, C; Waqas, A; Ayub, M; Rasheed, S; Forgeot d'Arc, B; Johnson, A; So, J; Brohi, MQ; Mottron, L; Ansar, M; Vincent, JB; Xiong, L (2015): Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. BMC Med Genet. 2015; 16(7):41-41 [Fulltext][PubMed]
Schmid, M; Klaritsch, P; Arzt, W; Burkhardt, T; Duba, HC; Häusler, M; Hafner, E; Lang, U; Pertl, B; Speicher, M; Steiner, H; Tercanli, S; Merz, E; Heling, KS; Eiben, B (2015): Cell-Free DNA Testing for Fetal Chromosomal Anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT). Ultraschall Med. 2015; 36(5): 507-510. [Fulltext][PubMed]
Schulz, E; Kashofer, K; Heitzer, E; Mhatre, KN; Speicher, MR; Hoefler, G; Sill, H (2015): Preexisting TP53 mutation in therapy-related acute myeloid leukemia. Ann Hematol. 2015; 94(3): 527-529. [Fulltext][PubMed]
Seidel, MG; Hirschmugl, T; Gamez-Diaz, L; Schwinger, W; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Grimbacher, B; Urban, C; Boztug, K (2015): Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. J Allergy Clin Immunol. 2015; 135(5): 1384-1390. [Fulltext][PubMed]
Heitzer, E; Ulz, P; Geigl, JB (2015): Circulating Tumor DNA as a Liquid Biopsy for Cancer. Clin Chem. 2015; 61(1): 112-123. [Fulltext][PubMed]
Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D (2015): Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet. 2015; 23(5): 720-720. [Fulltext][PubMed]
Bengesser, S; Lackner, N; Birner, A; Reininghaus, B; Heilbronner, U; Fuchs, R; Allard, N; Wallner-Liebmann, S; Rieger, A; Queissner, R; Filic, K; Fellendorf, F; Petek, E; Windpassinger, C; Schorkhuber, C; Gigler, C; Gatkowsky, K; Macheiner, T; Kainzbauer, N; Reininghaus, E (2015): Is the Molecular Clock Ticking Differently in Bipolar Disorder? EUR PSYCHIAT. 2015; 30:
Ebner, T; Shebl, O; Tritscher, K; Oppelt, P; Duba, HC; Maurer, M; Schappacher-Tilp, G; Petek, E; Mayer, RB (2015): Qualitative and quantitative grading of human blastocysts and its association with live-birth rate and neonatal outcome HUM REPROD. . 2015; 30: 44-45.-31st Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE); JUN 14-17, 2015; Lisbon, PORTUGAL.
Heitzer, E; Ulz, P; Auer, M; Belic, J; Sumitra, M; Lax, S; Hoefler, G; Augustin, H; Edgar, P; Bauernhofer, T; Geigl, J; Speicher, M (2015): Clinical utility of circulating tumor DNA in human cancers: A report of more than 300 plama-Seqs EUR J CANCER. 2015; 51: S33-S33.-European Cancer Congress; Sep 25-29, 2015; Vienna, AUSTRIA.
Pfragner, R; Schwach, G; Hoeger, H; Tabrizi-Wizsy, NG; Tam-Amersdorfer, C; Leitinger, G; Bock, E; Zeitlhofer, P; Haas, OA; Beichler, C; Speicher, MR; Rinner, B; Niederle, B; Strobl, H (2015): A Novel Human Cell Line from Familial Medullary Thyroid Carcinoma NEUROENDOCRINOLOGY. 2015; 102(1-2):86-86.-12th Annual ENETS Conference for the Diagnosis and Treatment of Neuroendocrine Tumor Disease; MAR 11-13, 2015; Barcelona, SPAIN.
Shebl, O; Oppelt, P; Sifferlinger, I; Habelsberger, A; Mayer, R; Petek, E; Ebner, T (2015): Ova Morphology and Quality in Eendometriosis Patients in the Context of an ART GEBURTSH FRAUENHEILK. . 2015; 75(7): [Fulltext]
Speicher, MR; Heitzer, E; Ulz, P; Geigl, JB; (2015): Monitoring tumor evolution by whole-genome plasma sequencing CANCER RES. 2015; 75: -106th Annual Meeting of the American-Association-for-Cancer-Research (AACR); APR 18-22, 2015; Philadelphia, PA. [Fulltext]
Zuckermann, M; Hovestadt, V; Knobbe-Thomsen, CB; Zapatka, M; Northcott, PA; Schramm, K; Belic, J; Jones, DTW; Tschida, B; Moriarity, B; Largaespada, D; Roussel, MF; Korshunov, A; Reifenberger, G; Pfister, SM; Lichter, P; Kawauchi, D; Gronych, J (2015): Somatic CRISPR/Cas9-mediated tumor suppressor disruption enables versatile brain tumor modeling CANCER RES. 2015; 75: -AACR Special Conference on Advances in Brain Cancer Research; MAY 27-30, 2015; Washington, DC.

2014

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Al Kaissi, A; Ganger, R; Rotzer, KM; Klaushofer, K; Grill, F (2014): A Child With Split-Hand/Foot Associated With Tibial Hemimelia (SHFLD Syndrome) and Thrombocytopenia Maps to Chromosome Region 17p13.3 AM J MED GENET A. 2014; 164A(9): 2338-2343. [Fulltext]
Bernhart, E; Damm, S; Heffeter, P; Wintersperger, A; Asslaber, M; Frank, S; Hammer, A; Strohmaier, H; DeVaney, T; Mrfka, M; Eder, H; Windpassinger, C; Ireson, CR; Mischel, PS; Berger, W; Sattler, W (2014): Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathways. Neuro Oncol. 2014; 16(7):933-945 [Fulltext][PubMed]
Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC (2014): Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum Mol Genet. 2014; 23(15):4015-4023 [Fulltext][PubMed]
Brozkova, DS; Mazanec, R; Bohm, J; Vysata, O; Auer-Grumbach, M; Windpassinger, C; Neupauerova, J; Barankova, L; Nevsimalova, S; Seeman, P (2014): Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families CESK SLOV NEUROL N. 2014; 77(4): 479-486.
Casper, M; Petek, E; Henn, W; Niewald, M; Schneider, G; Zimmer, V; Lammert, F; Raedle, J (2014): Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q. QJM. 2014; 107(7): 521-527. [Fulltext][PubMed]
Ebner, T; Shebl, O; Holzer, S; Oppelt, P; Petek, E; Schappacher-Tilp, G; Mayer, RB (2014): Viability of cumulus cells is associated with basal AMH levels in assisted reproduction. Eur J Obstet Gynecol Reprod Biol. 2014; 183: 59-63. [Fulltext][PubMed]
Egger, G; Roetzer, KM; Noor, A; Lionel, AC; Mahmood, H; Schwarzbraun, T; Boright, O; Mikhailov, A; Marshall, CR; Windpassinger, C; Petek, E; Scherer, SW; Kaschnitz, W; Vincent, JB (2014): Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics. 2014; 15(2):117-127 [Fulltext][PubMed]
Fried, I; Artl, M; Cota, C; Müller, H; Bartolo, E; Boi, S; Chiarelli, C; Vale, E; Schmuth, M; Wiesner, T; Speicher, MR; Cerroni, L (2014): Clinicopathologic and molecular features in cutaneous extranodal natural killer-/T-cell lymphoma, nasal type, with aggressive and indolent course. J Am Acad Dermatol. 2014; 70(4):716-723 [Fulltext][PubMed]
Heidary, M; Auer, M; Ulz, P; Heitzer, E; Petru, E; Gasch, C; Riethdorf, S; Mauermann, O; Lafer, I; Pristauz, G; Lax, S; Pantel, K; Geigl, JB; Speicher, MR (2014): The dynamic range of circulating tumor DNA in metastatic breast cancer. Breast Cancer Res. 2014; 16(4):421-421 [Fulltext][PubMed]
Heitzer, E; Artl, M; Filipits, M; Resel, M; Graf, R; Weißenbacher, B; Lax, S; Gnant, M; Wrba, F; Greil, R; Dietze, O; Hofbauer, F; Böhm, G; Höfler, G; Samonigg, H; Schaberl-Moser, R; Balic, M; Dandachi, N (2014): Differential survival trends of stage II colorectal cancer patients relate to promoter methylation status of PCDH10, SPARC, and UCHL1. Mod Pathol. 2014; 27(6):906-915 [Fulltext][PubMed]
Heitzer, E; Tomlinson, I (2014): Replicative DNA polymerase mutations in cancer. CURR OPIN GENET DEV. 2014; 24(5): 107-113. [Fulltext][PubMed]
Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C (2014): Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene. J Genet. 2014; 93(2): 527-530. [PubMed]
Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C (2014): A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014; 23(22):5940-5949 [Fulltext][PubMed]
Marschik, PB; Bartl-Pokorny, KD; Tager-Flusberg, H; Kaufmann, WE; Pokorny, F; Grossmann, T; Windpassinger, C; Petek, E; Einspieler, C (2014): Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development. Dev Neurorehabil. 2014; 17(1):34-38 [Fulltext][PubMed]
Miething, C; Scuoppo, C; Bosbach, B; Appelmann, I; Nakitandwe, J; Ma, J; Wu, G; Lintault, L; Auer, M; Premsrirut, PK; Teruya-Feldstein, J; Hicks, J; Benveniste, H; Speicher, MR; Downing, JR; Lowe, SW (2014): PTEN action in leukaemia dictated by the tissue microenvironment. Nature. 2014; 510(7505):402-406 [Fulltext][PubMed]
Mlecnik, B; Bindea, G; Angell, HK; Sasso, MS; Obenauf, AC; Fredriksen, T; Lafontaine, L; Bilocq, AM; Kirilovsky, A; Tosolini, M; Waldner, M; Berger, A; Fridman, WH; Rafii, A; Valge-Archer, V; Pages, F; Speicher, MR; Galon, J; (2014): Functional Network Pipeline Reveals Genetic Determinants Associated with in Situ Lymphocyte Proliferation and Survival of Cancer Patients. SCI TRANSL MED. 2014; 6(228): 228ra37-228ra37. [Fulltext][PubMed]
Mohan, S; Heitzer, E; Ulz, P; Lafer, I; Lax, S; Auer, M; Pichler, M; Gerger, A; Eisner, F; Hoefler, G; Bauernhofer, T; Geigl, JB; Speicher, MR (2014): Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing. PLoS Genet. 2014; 10(3):e1004271-e1004271 [Fulltext][PubMed]
Muller, C; Holtschmidt, J; Auer, M; Heitzer, E; Lamszus, K; Schulte, A; Matschke, J; Langer-Freitag, S; Gasch, C; Stoupiec, M; Mauermann, O; Peine, S; Glatzel, M; Speicher, MR; Geigl, JB; Westphal, M; Pantel, K; Riethdorf, S (2014): Hematogenous dissemination of glioblastoma multiforme SCI TRANSL MED. 2014; 6(247): 247ra101-247ra101. [Fulltext][PubMed]
Pabinger, S; Dander, A; Fischer, M; Snajder, R; Sperk, M; Efremova, M; Krabichler, B; Speicher, MR; Zschocke, J; Trajanoski, Z (2014): A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform. 2014; 15(2):256-278 [Fulltext][PubMed]
Rossmann, C; Windpassinger, C; Brunner, D; Kovacevic, A; Schweighofer, N; Malli, R; Schuligoi, R; Prokesch, A; Kluve-Beckerman, B; Graier, WF; Kratky, D; Sattler, W; Malle, E (2014): Characterization of rat serum amyloid A4 (SAA4): A novel member of the SAA superfamily. Biochem Biophys Res Commun. 2014; 450(4):1643-1649 [Fulltext][PubMed]
Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A (2014): A novel single base pair duplication in WDR62 causes primary microcephaly. BMC Med Genet. 2014; 15(10):107-107 [Fulltext][PubMed]
Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H (2014): Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. Nat Commun. 2014; 5(10):5191-5191 [Fulltext][PubMed]
Seidel, MG; Duerr, C; Woutsas, S; Schwerin-Nagel, A; Sadeghi, K; Neesen, J; Uhrig, S; Santos-Valente, E; Pickl, WF; Schwinger, W; Urban, C; Boztug, K; Förster-Waldl, E (2014): A novel immunodeficiency syndrome associated with partial trisomy 19p13. J Med Genet. 2014; 51(4):254-263 [Fulltext][PubMed]
Spiegler, S; Najm, J; Liu, J; Gkalympoudis, S; Schröder, W; Borck, G; Brockmann, K; Elbracht, M; Fauth, C; Ferbert, A; Freudenberg, L; Grasshoff, U; Hellenbroich, Y; Henn, W; Hoffjan, S; Hüning, I; Korenke, GC; Kroisel, PM; Kunstmann, E; Mair, M; Munk-Schulenburg, S; Nikoubashman, O; Pauli, S; Rudnik-Schöneborn, S; Sudholt, I; Sure, U; Tinschert, S; Wiednig, M; Zoll, B; Ginsberg, MH; Felbor, U (2014): High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Mol Genet Genomic Med. 2014; 2(2): 176-185. [Fulltext][PubMed]
Niederkorn, A; Wackernagel, W; Artl, M; Schwantzer, G; Aigner, B; Richtig, E (2014): Response of patients with metastatic uveal melanoma to combined treatment with fotemustine and sorafenib. Acta Ophthalmol. 2014; 92(8):e696-e697 [Fulltext][PubMed]
Stadelmeyer, E; Heitzer, E; Resel, M; Cerroni, L; Wolf, P; Dandachi, N (2014): The BRAF V600K mutation is more frequent than the BRAF V600E mutation in melanoma in situ of lentigo maligna type. J Invest Dermatol. 2014; 134(2):548-550 [Fulltext][PubMed]
Reiterer, F; Grossauer, K; Morris, N; Uhrig, S; Resch, B (2014): Congenital pulmonary lymphangiectasis. Paediatr Respir Rev. 2014; 15(3):275-280 [Fulltext][PubMed]
Speicher, MR; Pantel, K (2014): Tumor signatures in the blood. Nat Biotechnol. 2014; 32(5): 441-443. [Fulltext][PubMed]
Auer, M; Heitzer, E; Ulz, P; Pristauz, G; Petru, E; Jahn, S; Speicher, MR; Geigl, JB; (2014): Whole-genome sequencing of plasma DNA reveals frequently occurring copy number changes in patients with metastatic breast cancer. EUR J CANCER. EUROPEAN JOURNAL OF CANCER50: S153-S153. OXFORD: ELSEVIER SCI LTD;
Heitzer, E; Mohan, S; Ulz, P; Lafer, I; Auer, M; Lax, S; Hoefler, G; Bauernhofer, T; Geigl, JB; Speicher, MR; (2014): Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing. EUR J CANCER. 2014; 50: S96-S96.-EACR 2014; München.
Nikitina, L; Dohr, G; Juch, H (2014): NANOPARTICLE INTERACTION WITH EARLY HUMAN PLACENTA: PLACENTAL BARRIER MATTERS? PLACENTA. 2014; 35(9):A97-A97.-International-Federation-of-Placenta-Associations (IFPA)/EPG Meeting; SEP 09-12, 2014; Paris, FRANCE.
Riethdorf, S; Westphal, M; Mueller, C; Holtschmidt, J; Schulte, A; Matschke, J; Auer, M; Speicher, M; Lamszus, K; Pantel, K (2014): CIRCULATING TUMOR CELLS IN GLIOBLASTOMA NEURO-ONCOLOGY. 2014; 16: [Fulltext]
Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Najima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Geigl, JB; Höfler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H (2014): Germline variants in the semaphorin SEMA4A confer susceptibility to familial colorectal cancer type X Oncol Res Treat. 2014; 37(S5):105-105.-Annual Meeting of the German, Austrian and Swiss Associations of Hematology and Medical Oncology; OCT 10-14, 2014; Hamburg, GERMANY. (ISBN: 978-3-318-02811-9 )
Seidel, MG; Hirschmugl, T; Schwinger, W; Gamez-Diaz, L; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Speicher, M; Grimbacher, B; Urban, C; Boztug, K (2014): Long-Term Continuous Remission After Allogeneic Hematopoietic Stem Cell Transplantation in ALPS/CVID Overlap Syndrome Due to Lipopolysaccharide Responsive Beige-Like Anchor Protein (LRBA) Deficiency J CLIN IMMUNOL. 2014; 34: S226-S227.-16th Biennial Meeting of the European-Society-for-Immunodeficiencies; OCT 29-NOV 01, 2014; Prague, CZECH REPUBLIC.
Smolle, E; Flicker, K; Moinfar, F; Speicher, M; Haybaeck, J (2014): Genomic characterization of endometrial stromal sarcomas by array CGH VIRCHOWS ARCH. 2014; 465: S317-S317.

2013

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Al Kaissi, A; Ganger, R; Roetzer, KM; Schwarzbraun, T; Klaushofer, K; Grill, F (2013): Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes. Orthop Surg. 2013; 5(1): 33-39. [Fulltext][PubMed]
Balic, M; Schwarzenbacher, D; Stanzer, S; Heitzer, E; Auer, M; Geigl, JB; Cote, RJ; Datar, RH; Dandachi, N (2013): Genetic and epigenetic analysis of putative breast cancer stem cell models. BMC Cancer. 2013; 13(7):358-358 [Fulltext][PubMed]
Bindea, G; Mlecnik, B; Tosolini, M; Kirilovsky, A; Waldner, M; Obenauf, AC; Angell, H; Fredriksen, T; Lafontaine, L; Berger, A; Bruneval, P; Fridman, WH; Becker, C; Pagès, F; Speicher, MR; Trajanoski, Z; Galon, J (2013): Spatiotemporal dynamics of intratumoral immune cells reveal the immune landscape in human cancer. Immunity. 2013; 39(4):782-795 [Fulltext][PubMed]
Cullup, T; Kho, AL; Dionisi-Vici, C; Brandmeier, B; Smith, F; Urry, Z; Simpson, MA; Yau, S; Bertini, E; McClelland, V; Al-Owain, M; Koelker, S; Koerner, C; Hoffmann, GF; Wijburg, FA; ten Hoedt, AE; Rogers, RC; Manchester, D; Miyata, R; Hayashi, M; Said, E; Soler, D; Kroisel, PM; Windpassinger, C; Filloux, FM; Al-Kaabi, S; Hertecant, J; Del Campo, M; Buk, S; Bodi, I; Goebel, HH; Sewry, CA; Abbs, S; Mohammed, S; Josifova, D; Gautel, M; Jungbluth, H; (2013): Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013; 45(1):83-87 [Fulltext][PubMed]
El-Heliebi, A; Kroneis, T; Zöhrer, E; Haybaeck, J; Fischereder, K; Kampel-Kettner, K; Zigeuner, R; Pock, H; Riedl, R; Stauber, R; Geigl, JB; Huppertz, B; Sedlmayr, P; Lackner, C (2013): Are morphological criteria sufficient for the identification of circulating tumor cells in renal cancer? J Transl Med. 2013; 11(10):214-214 [Fulltext][PubMed]
Fruhmann, J; Geigl, JB; Konstantiniuk, P; Cohnert, TU (2013): Paraganglioma of the Carotid Body: Treatment Strategy and SDH-gene Mutations. Eur J Vasc Endovasc Surg. 2013; 45(5):431-436 [Fulltext][PubMed]
Gordon, CT; Petit, F; Kroisel, PM; Jakobsen, L; Zechi-Ceide, RM; Oufadem, M; Bole-Feysot, C; Pruvost, S; Masson, C; Tores, F; Hieu, T; Nitschké, P; Lindholm, P; Pellerin, P; Guion-Almeida, ML; Kokitsu-Nakata, NM; Vendramini-Pittoli, S; Munnich, A; Lyonnet, S; Holder-Espinasse, M; Amiel, J (2013): Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am J Hum Genet. 2013; 93(6):1118-1125 [Fulltext][PubMed]
Gordon, CT; Vuillot, A; Marlin, S; Gerkes, E; Henderson, A; AlKindy, A; Holder-Espinasse, M; Park, SS; Omarjee, A; Sanchis-Borja, M; Bdira, EB; Oufadem, M; Sikkema-Raddatz, B; Stewart, A; Palmer, R; McGowan, R; Petit, F; Delobel, B; Speicher, MR; Aurora, P; Kilner, D; Pellerin, P; Simon, M; Bonnefont, JP; Tobias, ES; García-Miñaúr, S; Bitner-Glindzicz, M; Lindholm, P; Meijer, BA; Abadie, V; Denoyelle, F; Vazquez, MP; Rotky-Fast, C; Couloigner, V; Pierrot, S; Manach, Y; Breton, S; Hendriks, YM; Munnich, A; Jakobsen, L; Kroisel, P; Lin, A; Kaban, LB; Basel-Vanagaite, L; Wilson, L; Cunningham, ML; Lyonnet, S; Amiel, J (2013): Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. J Med Genet. 2013; 50(3):174-186 [Fulltext][PubMed]
Griewank, KG; Westekemper, H; Murali, R; Mach, M; Schilling, B; Wiesner, T; Schimming, T; Livingstone, E; Sucker, A; Grabellus, F; Metz, C; Süsskind, D; Hillen, U; Speicher, MR; Woodman, SE; Steuhl, KP; Schadendorf, D (2013): Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas. Clin Cancer Res. 2013; 19(12):3143-3152 [Fulltext][PubMed]
Heitzer, E; Auer, M; Gasch, C; Pichler, M; Ulz, P; Hoffmann, EM; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Lackner, C; Höfler, G; Eisner, F; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR (2013): Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. Cancer Res. 2013; 73(10):2965-2975 [Fulltext][PubMed]
Heitzer, E; Auer, M; Hoffmann, EM; Pichler, M; Gasch, C; Ulz, P; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Mohan, S; Pristauz, G; Lackner, C; Höfler, G; Eisner, F; Petru, E; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR (2013): Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer. Int J Cancer. 2013; 133(2):346-356 [Fulltext][PubMed]
Heitzer, E; Lax, S; Lafer, I; Müller, SM; Pristauz, G; Ulz, P; Jahn, S; Högenauer, C; Petru, E; Speicher, MR; Geigl, JB (2013): Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma. BMC Med Genet. 2013; 14(1):129-129 [Fulltext][PubMed]
Heitzer, E; Ulz, P; Belic, J; Gutschi, S; Quehenberger, F; Fischereder, K; Benezeder, T; Auer, M; Pischler, C; Mannweiler, S; Pichler, M; Eisner, F; Haeusler, M; Riethdorf, S; Pantel, K; Samonigg, H; Hoefler, G; Augustin, H; Geigl, JB; Speicher, MR (2013): Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing. Genome Med. 2013; 5(4):30-30 [Fulltext][PubMed]
Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW (2013): Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet. 2013; 22(10):2055-2066 [Fulltext][PubMed]
Muhn, F; Klopocki, E; Graul-Neumann, L; Uhrig, S; Colley, A; Castori, M; Lankes, E; Henn, W; Gruber-Sedlmayr, U; Seifert, W; Horn, D (2013): Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clin Genet. 2013; 84(6):531-538 [Fulltext][PubMed]
Seiringer, M; Maurer, M; Shebl, O; Dreier, K; Tews, G; Ziehr, S; Schappacher-Tilp, G; Petek, E; Ebner, T (2013): Efficacy of a sperm-selection chamber in terms of morphology, aneuploidy and DNA packaging. Reprod Biomed Online. 2013; 27(1):81-88 [Fulltext][PubMed]
Speicher, MR (2013): Single-cell analysis: toward the clinic. Genome Med. 2013; 5(8):74-74 [Fulltext][PubMed]
Tea, MK; Weghofer, A; Wagner, K; Singer, CF (2013): Association of BRCA1/2 mutations with FMR1 genotypes: effects on menarcheal and menopausal age. Maturitas. 2013; 75(2):148-151 [Fulltext][PubMed]
Orendi, K; Emberger, W; Speicher, MR; Hoefler, G; Sill, H (2013): Molecular Cytogenetics and Multiplex Reverse-Transcriptase Polymerase Chain Reaction for Risk Stratification in Acute Myeloid Leukemia. J Clin Oncol. 2013; 31(18):2360-2361 [Fulltext][PubMed]
Heitzer, E; Auer, M; Ulz, P; Geigl, JB; Speicher, MR (2013): Circulating tumor cells and DNA as liquid biopsies. Genome Med. 2013; 5(8):73-73 [Fulltext][PubMed]
Juch, H; Nikitina, L; Debbage, P; Dohr, G; Gauster, M (2013): Nanomaterial interference with early human placenta: Sophisticated matter meets sophisticated tissues. Reprod Toxicol. 2013; 41(1):73-79 [Fulltext][PubMed]
Orendi, K; Uhrig, S; Mach, M; Tschepper, P; Speicher, MR (2013): Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability. Am J Med Genet A. 2013; 161A(7):1806-1812 [Fulltext][PubMed]
Auer, M; Heitzer, E; Ulz, P; Geigl, JB; Speicher, MR (2013): Single circulating tumor cell sequencing for monitoring. Oncotarget. 2013; 4(6):812-813 [PubMed]
Auer, M; Heitzer, E; Ulz, P; Pristauz, G; Petru, E; Jahn, S; Lafer, I; Pantel, K; Speicher, MR; Geigl, JB (2013): Complex tumor genomes inferred from plasma DNA of patients with metastatic breast cancer by whole-genome sequencing EUR J CANCER. 2013; 49: S399-S399.-17th ECCO / 38th ESMO / 32nd ESTRO European Cancer Congress on Reinforcing Multidisciplinarity; SEP 27-OCT 01, 2013; Amsterdam, NETHERLANDS.
Bettermann, K; Mehta, AK; Lederer, E; Ernst, C; Kessler, SM; Chen, X; Hoshida, Y; Bardeesy, N; Fuchs, BC; Tanabe, KK; Müller, H; Svendova, V; Schimek, MG; Mach, M; Speicher, MR; Mahajan, V; Stumptner, C; Thueringer, A; Stojakovic, T; Longerich, T; Schirmacher, P; Magin, TM; Strnad, P; Fuchs, CD; Trauner, M; Spilka, R; Kiemer, AK; Teufel, A; Maass, T; Moriggl, R; Campbell, JS; Thorgeirsson, SS; Stauffer, J; Karin, M; Llovet, JM; Zatloukal, K; Lackner, C; Haybäck, J (2013): Steatohepatitis-associated Hepatocellular Carcinoma: Evidence of a Keratinopathy. HEPATOLOGY. 2013; 58(S1):543A-543A.-64th Annual Meeting of the American Association for the Study of Liver Diseases (AASLD); NOV 1-5, 2013; Washington, DC, USA.
Griewank, KG; Westekemper, H; Schilling, B; Mach, M; Murali, R; Wiesner, T; Schimming, T; Grabellus, F; Metz, C; Sucker, A; Hillen, U; Speicher, M; Woodman, S; Steuhl, K; Schadendorf, D; (2013): Oncogene and copy number analysis of a larger cohort of conjunctival melanoma. EXP DERMATOL. 2013; 22(3):E43-E43.-40th Annual Meeting of the Association-of-Dermatological-Research; MAR 14-16, 2013; Dessau, GERMANY.
Heitzer, E; Ulz, P; Belic, J; Gutschi, S; Quehenberger, F; Auer, M; Augustin, H; Hoefler, G; Geigl, JB; Speicher, MR (2013): Tumor associated copy number changes identified by whole-genome sequencing in the circulation of patients with prostate cancer EUR J CANCER. 2013; 49: S98-S98.-17th ECCO / 38th ESMO / 32nd ESTRO European Cancer Congress on Reinforcing Multidisciplinarity; SEP 27-OCT 01, 2013; Amsterdam, NETHERLANDS.
Tongsook, C; Bernkopf, M; Windpassinger, C; Macheroux, P (2013): Exploration of the function of human methyltransferase like 23 (METTL23) FEBS J. 2013; 280: 97-97.

2012

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Binder, JS; Weidemann, F; Schoser, B; Niemann, M; Machann, W; Beer, M; Plank, G; Schmidt, A; Bisping, E; Poparic, I; Lafer, I; Stojakovic, T; Quasthoff, S; Vincent, JB; Rienmueller, R; Speicher, MR; Berghold, A; Pieske, B; Windpassinger, C (2012): Spongious Hypertrophic Cardiomyopathy in Patients with Mutations in the Four-and-a-Half LIM-domain 1 Gene. Circ Cardiovasc Genet. 2012; 5(5):490-502 [Fulltext][PubMed]
Fiorillo, C; Moro, F; Brisca, G; Astrea, G; Nesti, C; Balint, Z; Olschewski, A; Meschini, MC; Guelly, C; Auer-Grumbach, M; Battini, R; Pedemonte, M; Romano, A; Menchise, V; Biancheri, R; Santorelli, FM; Bruno, C (2012): TRPV4 mutations in children with congenital distal spinal muscular atrophy. Neurogenetics. 2012; 13(3):195-203 [Fulltext][PubMed]
Fischer, C; Trajanoski, S; Papic, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M (2012): SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. J Neurol. 2012; 259(3):515-523 [Fulltext][PubMed]
Flicker, K; Ulz, P; Höger, H; Zeitlhofer, P; Haas, OA; Behmel, A; Buchinger, W; Scheuba, C; Niederle, B; Pfragner, R; Speicher, MR (2012): High-resolution analysis of alterations in medullary thyroid carcinoma genomes. Int J Cancer. 2012; 131(2):E66-E73 [Fulltext][PubMed]
Frings, A; Geigl, JB; Liegl-Atzwanger, B; Leithner, A (2012): Familial aggregation of urinary tract and bone tumors: searching for a syndrome. Case Rep Med. 2012; 2012(12):107894-107894 [Fulltext][PubMed]
Gianakopoulos, PJ; Zhang, Y; Pencea, N; Orlic-Milacic, M; Mittal, K; Windpassinger, C; White, SJ; Kroisel, PM; Chow, EW; Saunders, CJ; Minassian, BA; Vincent, JB (2012): Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(2): 210-216. [Fulltext][PubMed]
Heitzer, E; Sandner-Kiesling, A; Schippinger, W; Stohscheer, I; Osprian, I; Bitsche, S; Eisner, F; Verebes, J; Hofmann, G; Samonigg, H (2012): IL-7, IL-18, MCP-1, MIP1-β, and OPG as biomarkers for pain treatment response in patients with cancer. Pain Physician. 2012; 15(6):499-510 [PubMed]
Heitzer, E; Seidl, H; Bambach, I; Schmidbauer, U; Cerroni, L; Wolf, P (2012): Infrequent p53 gene mutation but UV gradient-like p53 protein positivity in keloids. Exp Dermatol. 2012; 21(4):277-280 [Fulltext][PubMed]
Katz, SF; Lechel, A; Obenauf, AC; Begus-Nahrmann, Y; Kraus, JM; Hoffmann, EM; Duda, J; Eshraghi, P; Hartmann, D; Liss, B; Schirmacher, P; Kestler, HA; Speicher, MR; Rudolph, KL (2012): Disruption of Trp53 in livers of mice induces formation of carcinomas with bilineal differentiation. Gastroenterology. 2012; 142(5):1229-1239 [Fulltext][PubMed]
Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB (2012): Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet. 2012; 90(5):856-863 [Fulltext][PubMed]
Mathiesen, RR; Fjelldal, R; Liestl, K; Due, EU; Geigl, JB; Riethdorf, S; Borgen, E; Rye, IH; Schneider, IJ; Obenauf, AC; Mauermann, O; Nilsen, G; Christian Lingjaerde, O; Brresen-Dale, AL; Pantel, K; Speicher, MR; Naume, B; Baumbusch, LO (2012): High-resolution analyses of copy number changes in disseminated tumor cells of patients with breast cancer. Int J Cancer. 2012; 131(4):E405-E415 [Fulltext][PubMed]
Nagel, B; Gruber-Sedlmayr, U; Uhrig, S; Stöllberger, C; Klopocki, E; Finsterer, J (2012): Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants. BMC Med Genet. 2012; 13(8):60-60 [Fulltext][PubMed]
Nuk, M; Orendi, K; Rosenberger, S; Griesbacher, A; Holzapfel-Bauer, M; Resch, B; Lang, U; Pertl, B (2012): Genetic variations in fetal and maternal tumor necrosis factor-α and interleukin 10: is there an association with preterm birth or periventricular leucomalacia? J Perinatol. 2012; 32(1):27-32 [Fulltext][PubMed]
Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H (2012): Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms. J Med Genet. 2012; 49(7):422-428 [Fulltext][PubMed]
Schwetz, V; Uhrig, S; Spuller, E; Deutschmann, A; Högenauer, C (2012): Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. Eur J Gastroenterol Hepatol. 2012; 24(8):988-994 [Fulltext][PubMed]
Spengler, S; Begemann, M; Ortiz Brüchle, N; Baudis, M; Denecke, B; Kroisel, PM; Oehl-Jaschkowitz, B; Schulze, B; Raabe-Meyer, G; Spaich, C; Blümel, P; Jauch, A; Moog, U; Zerres, K; Eggermann, T (2012): Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features. J Pediatr. 2012; 161(5):933-942 [Fulltext][PubMed]
Sperka, T; Song, ZF; Morita, Y; Nalapareddy, K; Guachalla, LM; Lechel, A; Begus-Nahrmann, Y; Burkhalter, MD; Mach, M; Schlaudraff, F; Liss, B; Ju, ZY; Speicher, MR; Rudolph, KL (2012): Puma and p21 represent cooperating checkpoints limiting self-renewal and chromosomal instability of somatic stem cells in response to telomere dysfunction NAT CELL BIOL. 2012; 14(1): 73-U114. [Fulltext]
Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG (2012): Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives. Klin Padiatr. 2012; 224(6):386-389 [Fulltext][PubMed]
Van Der Werf, CS; Wabbersen, TD; Hsiao, NH; Paredes, J; Etchevers, HC; Kroisel, PM; Tibboel, D; Babarit, C; Schreiber, RA; Hoffenberg, EJ; Vekemans, M; Zeder, SL; Ceccherini, I; Lyonnet, S; Ribeiro, AS; Seruca, R; Te Meerman, GJ; van Ijzendoorn, SC; Shepherd, IT; Verheij, JB; Hofstra, RM (2012): CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology. 2012; 142(3):453-462 [Fulltext][PubMed]
Varga, RE; Mumtaz, R; Jahic, A; Rudenskaya, GE; Snchez-Ferrero, E; Auer-Grumbach, M; Hübner, CA; Beetz, C (2012): MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives. Anal Biochem. 2012; 421(2):799-801 [Fulltext][PubMed]
Weghofer, A; Tea, MK; Barad, DH; Kim, A; Singer, CF; Wagner, K; Gleicher, N (2012): BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"? PLoS One. 2012; 7(9):e44753-e44753 [Fulltext][PubMed]
Wiesner, T; Fried, I; Ulz, P; Stacher, E; Popper, H; Murali, R; Kutzner, H; Lax, S; Smolle-Jüttner, F; Geigl, JB; Speicher, MR (2012): Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations. J Clin Oncol. 2012; 30(32):e337-e340 [Fulltext][PubMed]
Rankl, J; Flicker, K; Valentin, A; Horn, M; Uranus, S; Groselj-Strele, A; Emberger, W; Sill, H; (2012): Hypersensitivity to alkylation treatment of primary fibroblasts from patients with therapy-related myeloid neoplasms. Leuk Res. 2012; 36(7):e137-e139 [Fulltext][PubMed]
Ţuţulan-Cunită, AC; Papuc, SM; Arghir, A; Rötzer, KM; Deshpande, C; Lungeanu, A; Budişteanu, M (2012): 3p interstitial deletion: novel case report and review. J Child Neurol. 2012; 27(8):1062-1066 [Fulltext][PubMed]
Binder, J; Weidemann, F; Beer, M; Machann, W; Niemann, M; Plank, G; Lafer, I; Quasthoff, S; Stojakovic, T; Windpassinger, C (2012): SPONGIOUS HYPERTROPHIC CARDIOMYOPATHY: A NOVEL PHENOTYPE OF HYPERTROPHIC CARDIOMYOPATHY IN PATIENTS WITH MUTATIONS IN THE FOUR-AND-A-HALF LIM-DOMAIN 1 GENE. J AM COLL CARDIOL. 2012; 59(13):E1579-E1579.-61st Annual Scientific Session and Expo of the American College of Cardiology (ACC); MAR 24-27, 2012; Chicago, IL, USA.
Heitzer, E; Marija, B; Resel, M; Graf, R; Weissenbacher, B; Schaberl-Moser, R; Dandachi, N; (2012): IDENTIFICATION OF PROGNOSTIC METHYLATION MARKERS IN PATIENTS WITH EARLY STAGE COLORECTAL CANCER. ANN ONCOL. 2012; 23: 87-87.-14th World Congress on Gastrointestinal Cancer of the European-Society-for-Medical-Oncology (ESMO); JUN 27-30, 2012; Barcelona, SPAIN.
Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wolfler, A; Zebisch, A; Olipitz, W; Geigl, JB; Berghold, A; Speicher, MR; Sill, H (2012): Germ-line mutations in cancer predisposing genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy-related myeloid neoplasms. ONKOLOGIE. Onkologie. 2012; 35: 117-117.-Annual Meeting of the German, Austrian and Swiss Associations of Hematology and Medical Oncology; OCT 19-23, 2012; Stuttgart, GERMANY.
Seidel, M; Schwinger, W; Lackner, H; Deutschmann, A; Gorkiewicz, G; Speicher, MR; Boztug, K; Urban, EC (2012): Familial multiorgan-autoimmunity syndrome with cytopenia, liver-, and islet cell autoantibodies - a novel inherited immune dysregulation syndrome? IMMUNOLOGY. 2012; 137: 567-567. [Fulltext]
Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H, Bastian, BC; Speicher, MR (2012): Germline mutations in BAP1 predispose to melanocytic tumors. Experimental Dermatology. 2012; 21(3):e22--39th Annual Meeting of the Arbeitsgemeinschaft Dermatologische Forschung (ADF); March 01-03, 2012; Marburg, Germany.

2011

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Al Kaissi, A; M Roetzer, K; Ulz, P; Heitzer, E; Klaushofer, K; Grill, F (2011): Extra phenotypic features in a girl with Miller syndrome. Clin Dysmorphol. 2011; 20(2): 66-72. [Fulltext][PubMed]
Al Kaissi, A; Roetzer, KM; Heitzer, E; Ben Chehida, F; Ben Ghachem, M; Klaushofer, K; Grill, F (2011): Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association CLIN DYSMORPHOL. 2011; 20(4): 182-186. [Fulltext]
Aleksic, K; Lackner, C; Geigl, JB; Schwarz, M; Auer, M; Ulz, P; Fischer, M; Trajanoski, Z; Otte, M; Speicher, MR (2011): Evolution of genomic instability in diethylnitrosamine-induced hepatocarcinogenesis in mice. Hepatology. 2011; 53(3):895-904 [Fulltext][PubMed]
Auer-Grumbach, M; Weger, M; Fink-Puches, R; Papić, L; Fröhlich, E; Auer-Grumbach, P; El Shabrawi-Caelen, L; Schabhüttl, M; Windpassinger, C; Senderek, J; Budka, H; Trajanoski, S; Janecke, AR; Haas, A; Metze, D; Pieber, TR; Guelly, C (2011): Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011; 134(Pt 6):1839-1852 [Fulltext][PubMed]
Beitzke, M; Enzinger, C; Windpassinger, C; Pfeifer, D; Fazekas, F; Woellner, C; Grimbacher, B; Kroisel, PM (2011): Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome. J Neurol Sci. 2011; 309(1-2):12-15 [Fulltext][PubMed]
Daniele, T; Hackmann, Y; Ritter, AT; Wenham, M; Booth, S; Bossi, G; Schintler, M; Auer-Grumbach, M; Griffiths, GM (2011): A role for rab7 in the movement of secretory granules in cytotoxic T lymphocytes. Traffic. 2011; 12(7): 902-911. [Fulltext][PubMed]
Demuth, I; Dutrannoy, V; Marques, W; Neitzel, H; Schindler, D; Dimova, PS; Chrzanowska, KH; Bojinova, V; Gregorek, H; Graul-Neumann, LM; von Moers, A; Schulze, I; Nicke, M; Bora, E; Cankaya, T; Oláh, É; Kiss, C; Bessenyei, B; Szakszon, K; Gruber-Sedlmayr, U; Kroisel, PM; Sodia, S; Goecke, TO; Dörk, T; Digweed, M; Sperling, K; de Sá, J; Lourenco, CM; Varon, R (2011): New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics. 2011; 12(4):273-282 [Fulltext][PubMed]
Gauster, M; Berghold, VM; Moser, G; Orendi, K; Siwetz, M; Huppertz, B (2011): Fibulin-5 expression in the human placenta. Histochem Cell Biol. 2011; 135(2): 203-213. [Fulltext][PubMed]
Hurst, JA; Jenkins, D; Vasudevan, PC; Kirchhoff, M; Skovby, F; Rieubland, C; Gallati, S; Rittinger, O; Kroisel, PM; Johnson, D; Biesecker, LG; Wilkie, AO (2011): Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet. 2011; 19(7): 757-762. [Fulltext][PubMed]
Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BB; Esko, T; Fernandez, BA; Fernández-Aranda, F; Fernández-Real, JM; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Männik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Villatoro Gomez, S; Walha, F; Wu, BL; Yu, Y; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, JS; Elliott, P; Faas, BH; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, NV; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, FJ; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AI; Beckmann, JS; Froguel, P (2011): Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011; 478(7367):97-102 [Fulltext][PubMed]
Kroneis, T; Geigl, JB; El-Heliebi, A; Auer, M; Ulz, P; Schwarzbraun, T; Dohr, G; Sedlmayr, P (2011): Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification. Clin Chem. 2011; 57(7):1032-1041 [Fulltext][PubMed]
Orendi, K; Klein, K; Krampl-Bettelheim, E; Nuk, M; Holzapfel-Bauer, M; Magnet, E; Griesbacher, A; Lang, U; Pertl, B (2011): SRY-specific cell free fetal DNA in maternal plasma in twin pregnancies throughout gestation. Placenta. 2011; 32(8):611-615 [Fulltext][PubMed]
Poparic, I; Schreibmayer, W; Schoser, B; Desoye, G; Gorischek, A; Miedl, H; Hochmeister, S; Binder, J; Quasthoff, S; Wagner, K; Windpassinger, C; Malle, E (2011): Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). PLOS ONE. 2011; 6(10): e26524-e26524. [Fulltext][PubMed]
Sarkozy, A; Windpassinger, C; Hudson, J; Dougan, CF; Lecky, B; Hilton-Jones, D; Eagle, M; Charlton, R; Barresi, R; Lochmüller, H; Bushby, K; Straub, V (2011): Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet. 2011; 19(10): 1038-1044. [Fulltext][PubMed]
Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H; Bastian, BC; Speicher, MR (2011): Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet. 2011; 43(10):1018-1021 [Fulltext][PubMed]
Zung, A; Petek, E; Ben-Zeev, B; Schwarzbraun, T; Ben-Yehoshua, SJ (2011): MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. Am J Med Genet A. 2011; 155A(10):2469-2472 [PubMed]
Jahn, SW; Winter, G; Stacher, E; Halbwedl, I; Gattenlöhner, S; Stockinger, R; Spreitzer, S; Waldispuehl-Geigl, J; Geigl, JB; Offner, F; Hoefler, G (2011): Multiple intratumoral KRAS mutations can clonally segregate to different lymph node metastases in colon cancer. Histopathology. 2011; 59(2): 342-345. [Fulltext][PubMed]
Stadelmeyer, E; Heitzer, E; Wolf, P; Dandachi, N (2011): COLD-HRM PCR versus Conventional HRM PCR to Detect the BRAF V600E Mutation A Real Improvement? J MOL DIAGN. 2011; 13(2): 243-243. [Fulltext][PubMed]
Geigl, JB; Speicher, MR (2011): Nichtinvasive molekulargenetische Methoden in der pränatalen Diagnostik. Medizinische Genetik. 2011; 23(4): 485-489. [Fulltext]
Speicher, M; Eiben, B (2011): Prenatal, Preimplantation and Polar Body MED GENET-BERLIN. 2011; 23(4): 437-437.
Hofmann, G; Geigl, JB; Kastner, N; Leithner, A; Koppany, B; Samonigg, H; Gruber, G (2011): Genetic differences in preoperative specimen of osteosarcoma and their impact on response to neoadjuvant chemotherapy ONKOLOGIE. 2011; 34: 251-252.-Gemeinsame Jahrestagung 2011 der DGHO, ÖGHO, SGMO und SGH+SSH; SEP 30-OCT 4, 2011; Basel, SCHWEIZ.
Liegl, B; Flicker, K; Tavassoli, F; Speicher, M; Moinfar, F (2011): Molecular and Genetic Characterization of Diagnostically Challenging Uterine Smooth Muscle Neoplasms. LAB INVEST. 2011; 91: 1084--100th Annual Meeting USCAP; FEB 26 - MAR 3, 2011;
Liegl, B; Flicker, K; Tavassoli, P; Speicher, M; Moinfar, F (2011): Molecular and Genetic Characterization of Diagnostically Challenging Uterine Smooth Muscle Neoplasms MODERN PATHOL. 2011; 24: 1084

2010

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Auer-Grumbach, M; Olschewski, A; Papic, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; Strohmaier, H; Lochmüller, H; Schlotter-Weigel, B; Senderek, J; Krebs, A; Dick, KJ; Petty, R; Longman, C; Anderson, NE; Padberg, GW; Schelhaas, HJ; van Ravenswaaij-Arts, CM; Pieber, TR; Crosby, AH; Guelly, C (2010): Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet. 2010; 42(2): 160-164. [Fulltext][PubMed]
Geigl, JB; Heitzer, E; Speicher, MR (2010): Predictive five prognostic genetic biomarkers. WIEN KLIN WOCHENSCHR. 2010; 122 Suppl 2(8): 49-70.
Hofstaetter, JG; Roetzer, KM; Krepler, P; Nawrot-Wawrzyniak, K; Schwarzbraun, T; Klaushofer, K; Roschger, P (2010): Altered bone matrix mineralization in a patient with Rett syndrome. Bone. 2010; 47(3):701-705 [Fulltext][PubMed]
Jakubiczka, S; Schroder, C; Ullmann, R; Volleth, M; Ledig, S; Gilberg, E; Kroisel, P; Wieacker, P (2010): Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. SEX DEV. 2010; 4(3): 143-149. [Fulltext][PubMed]
Kroneis, T; Gutstein-Abo, L; Kofler, K; Hartmann, M; Hartmann, P; Alunni-Fabbroni, M; Walcher, W; Dohr, G; Petek, E; Guetta, E; Sedlmayr, P (2010): Automatic retrieval of single microchimeric cells and verification of identity by on-chip multiplex PCR J CELL MOL MED. 2010; 14(4): 954-969. [Fulltext][PubMed]
Obenauf, AC; Schwarzbraun, T; Auer, M; Hoffmann, EM; Waldispuehl-Geigl, J; Ulz, P; Günther, B; Duba, HC; Speicher, MR; Geigl, JB (2010): Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes. J Cell Mol Med. 2010; 14(8):2078-2084 [Fulltext][PubMed]
Pabst, MA; Letofsky-Papst, I; Moser, M; Spindler, K; Bock, E; Wilhelm, P; Dorfer, L; Geigl, JB; Auer, M; Speicher, MR; Hofer, F (2010): Different staining substances were used in decorative and therapeutic tattoos in a 1000-year-old Peruvian mummy J ARCHAEOL SCI. 2010; 37(12): 3256-3262. [Fulltext]
Pristauz, G; Petru, E; Stacher, E; Geigl, JB; Schwarzbraun, T; Tsybrovskyy, O; Winter, R; Moinfar, F (2010): Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations. Histopathology. 2010; 57(6):877-884 [Fulltext][PubMed]
Roetzer, KM; Schwarzbraun, T; Obenauf, AC; Hauser, E; Speicher, MR (2010): Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions. Am J Med Genet A. 2010; 152A(12):3173-3178 [Fulltext][PubMed]
Schallmoser, K; Bartmann, C; Rohde, E; Bork, S; Guelly, C; Obenauf, AC; Reinisch, A; Horn, P; Ho, AD; Strunk, D; Wagner, W (2010): Replicative senescence-associated gene expression changes in mesenchymal stromal cells are similar under different culture conditions. Haematologica. 2010; 95(6): 867-874. [Fulltext][PubMed]
Sovinz, P; Urban, C; Uhrig, S; Stepan, V; Lackner, H; Schwinger, W; Benesch, M; Moser, A; Spuller, E; Speicher, MR (2010): Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. Am J Med Genet A. 2010; 152A(7): 1752-1755. [Fulltext][PubMed]
Speicher, MR; Geigl, JB; Tomlinson, IP (2010): Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk. Lancet Oncol. 2010; 11(9): 890-898. [Fulltext][PubMed]
Tschische, P; Moser, E; Thompson, D; Vischer, HF; Parzmair, GP; Pommer, V; Platzer, W; Schwarzbraun, T; Schaider, H; Smit, MJ; Martini, L; Whistler, JL; Waldhoer, M (2010): The G-protein coupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28. Traffic. 2010; 11(5):660-674 [Fulltext][PubMed]
Van Raamsdonk, CD; Griewank, KG; Crosby, MB; Garrido, MC; Vemula, S; Wiesner, T; Obenauf, AC; Wackernagel, W; Green, G; Bouvier, N; Sozen, MM; Baimukanova, G; Roy, R; Heguy, A; Dolgalev, I; Khanin, R; Busam, K; Speicher, MR; O'Brien, J; Bastian, BC (2010): Mutations in GNA11 in Uveal Melanoma. N ENGL J MED. 2010; 363(23): 2191-2199. [Fulltext][PubMed]
Wiesner, T; Obenauf, AC; Cota, C; Fried, I; Speicher, MR; Cerroni, L (2010): Alterations of the cell-cycle inhibitors p27(KIP1) and p16(INK4a) are frequent in blastic plasmacytoid dendritic cell neoplasms. J Invest Dermatol. 2010; 130(4):1152-1157 [Fulltext][PubMed]
Wolf, EM; Geigl, JB; Svrcek, M; Vieth, M; Langner, C (2010): Hereditary gastric cancer]. Pathologe. 2010; 31(6):423-429 [Fulltext][PubMed]
Yu-Wai-Man, P; Griffiths, PG; Gorman, GS; Lourenco, CM; Wright, AF; Auer-Grumbach, M; Toscano, A; Musumeci, O; Valentino, ML; Caporali, L; Lamperti, C; Tallaksen, CM; Duffey, P; Miller, J; Whittaker, RG; Baker, MR; Jackson, MJ; Clarke, MP; Dhillon, B; Czermin, B; Stewart, JD; Hudson, G; Reynier, P; Bonneau, D; Marques, W; Lenaers, G; McFarland, R; Taylor, RW; Turnbull, DM; Votruba, M; Zeviani, M; Carelli, V; Bindoff, LA; Horvath, R; Amati-Bonneau, P; Chinnery, PF (2010): Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 2010; 133(Pt 3): 771-786. [Fulltext][PubMed]
Zimon, M; Baets, J; Auer-Grumbach, M; Berciano, J; Garcia, A; Lopez-Laso, E; Merlini, L; Hilton-Jones, D; McEntagart, M; Crosby, AH; Barisic, N; Boltshauser, E; Shaw, CE; Landoure, G; Ludlow, CL; Gaudet, R; Houlden, H; Reilly, MM; Fischbeck, KH; Sumner, CJ; Timmerman, V; Jordanova, A; De Jonghe, P (2010): Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. BRAIN. 2010; 133(Pt 6): 1798-1809. [Fulltext][PubMed]
Heitzer, E; Bambach, I; Dandachi, N; Horn, M; Wolf, P (2010): PTCH promoter methylation at low level in sporadic basal cell carcinoma analysed by three different approaches. EXP DERMATOL. 2010; 19(10): 926-928. [Fulltext][PubMed]
Reitter, S; Neumeister, P; Beham-Schmid, C; Emberger, W; Strunk, D; Brezinschek, R; Linkesch, W; Schmidt, HH (2010): A case of generalized MALT lymphoma with IgM paraproteinemia and peripheral blood involvement. Ann Hematol. 2010; 89(2): 213-214. [Fulltext][PubMed]
Pristauz, G; Geigl, JB; Petru, E (2010): BRCA1- and BRCA2 mutations: Clinical management of patients with hereditary breast and ovarian cancer. Wien Med Wochenschr. 2010; 160(7-8): 158-162. [Fulltext][PubMed]
Beraza, N; Ofner-Ziegenfuss, L; Ehedego, H; Boekschoten, M; Mueller, M; Trauner, M; Trautwein, C (2010): NOR-UDCA ATTENUATES PROGRESSION OF NASH J HEPATOL. 2010; 52: S304-S304.
Mathiesen, RR; Fjelldal, R; Due, EU; Geigl, JB; Riethdorf, S; Borresen-Dale, AL; Pantel, K; Speicher, MR; Baumbusch, LO; Naume, B (2010): Genomic profiles of single tumour cells in metastatic breast cancer patients EJC SUPPL. 2010; 8(5): 367
Pichler, M; Beham-Schmid, C; Lackner, K; Linkesch, W; Fickert, P; Emberger, W; Schmidt, H (2010): Cholestatic hepatitis due to diffuse liver infiltration by Acute myelogenous leukemia with inv(16)(p13;q22): A case report and review of the literature ONKOLOGIE. 2010; 33: 141-141.-Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Onkologie; Oct 1 -5, 2010; Berlin, Germany.
Pristauz, G; Petru, E; Stacher, E; Geigl, J; Speicher, M; Winter, R; Moinfar, F (2010): Androgen receptor expression in patients with BRCA1/2-positive and BRCA1/2-negative breast cancer GYNECOL ONCOL. 2010; 116(3):62-
Pristauz, G; Petru, E; Stacher, E; Geigl, JB; Schwarzbraun, T; Tsybrovskyy, O; Winter, R; Moinfar, F (2010): Expression of Androgen receptors in breast cancer patients after BRCA1 and BRCA 2 0-mutation test GEBURTSH FRAUENHEILK. 2010; 70(3):244-244.-Jahrestagung der OEGGG; JUN 2-6, 2010; Zell am See, AUSTRIA.
Pristauz, G; Petru, E; Stacher, E; Geigl, JB; Schwarzbraun, T; Tsybrovvskyy, O; Winter, R; Moinfar, F (2010): Expression of Androgen receptors in Breast carcinomas of patients for BRCA1 and BRCA2 Mutation Testing. GEBURTSH FRAUENHEILK. 2010; 70(5):P54-
Reinisch, A; Hofmann, N; Obenauf, A; Karl, K; Rohde, E; Schallmoser, K; Thaler, D; Fruhwirth, M; Flicker, K; Linkesch, W; Speicher, M; Strunk, D (2010): STABLE VESSEL GENERATION TROUGH APPLICATION OF BLOOD-DERIVED ENDOTHELIAL COLONY FORMING PROGENITOR CELLS (ECFCS) AND MESENCHYMAL STROMAL/STEM CELLS (MSCS) HAEMATOL-HEMATOL J. 15th Congress of the European Hematology Association. 2010; 95(s2):0509-220.-15th Congress of the European Hematology Association. ; JUN 10-13, 2010; Barcelona, SPAIN.
Reinisch, A; Hofmann, NA; Obenauf, A; Kashofer, K; Rohde, E; Schallmoser, K; Thaler, D; Fruhwirth, M; Flicker, K; Linkesch, W; Speicher, M; Strunk, D (2010): Sustained vessel formation through co-transplantation of endothelial colony-forming progenitor cells with mesenchymal stromal cells BONE MARROW TRANSPLANT. 2010; 45: S52-S52. -36th Annual Meeting of the European Group for Blood and Marrow Transplantation; MAR 21-24, 2010; Vienna, AUSTRIA.
Schallmoser, K; Bartmann, C; Rohde, E; Bork, S; Guelly, C; Obenauf, A; Reinisch, A; Horn, P; Ho, A; Linkesch, W; Lanzer, G; Wagner, W; Strunk, D (2010): SENESCENCE-ASSOCIATED GENE EXPRESSION CHANGES IN MESENCHYMAL STROMAL/STEM CELLS HAEMATOL-HEMATOL J. 2010; 95(s2):0249-110.-15th Congress of the European Hematology Association. ; JUN 10-13, 2010; Barcelona, SPAIN.
Schallmoser, K; Bartmann, C; Rohde, E; Bork, S; Guelly, C; Obenauf, AC; Reinisch, A; Hom, P; Ho, AD; Linkesch, W; Lanzer, G; Wagner, W; Strunk, D (2010): Replicative senescence-associated gene expression changes in mesenchymal stromal cells BONE MARROW TRANSPLANT. 2010; 45: S281-S281.
Schallmoser K; Bartmann, C; Rohde E; Bork, S; Guelly, C; Obenauf, AC; Reinisch, A; Horn, P; Ho, AD; Linkesch, W; Lanzer, G; Wagner, W; Strunk, D (2010): Similarity of Replicative Senescence-Associated Gene Expression Changes in Mesenchymal Stromal Cells under Various Culture Conditions. XXXIst International Congress of the ISBT in Joint Cooperation with the 43rd Congress of the DGTI2010; 99(1):481-482.-XXXIst International Congress of the ISBT in Joint Cooperation with the 43rd Congress of the DGTI; JUN 26-JUL 2, 2010; Berlin, GERMANY.
Schallmoser, K; Rohde, E; Obenauf, AC; Reinisch, A; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D (2010): Genomic Stability of Mesenchymal Stromal/Stem Cells After Long-Term Culture TRANSFUSION. 2010; 50: 24A-24A.-AABB; 08.-12.10.2010; Baltimore, MD, USA.
Schallmoser, K; Rohde, E; Reinisch, A; Obenauf, A; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D (2010): GENOMIC STABILITY IN LONG-TERM CULTURED MESENCHYMAL STROMAL/STEM CELLS HAEMATOL-HEMATOL J. 2010; 95: 0247
Schallmoser, K; Rohde, E; Reinisch, A; Obenauf, AC; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D (2010): Alteration of genomic stability in long-term cultured mesenchymal stromal cells BONE MARROW TRANSPLANT. 2010; 45: S280-S280.-36th Annual Meeting of the European Group for Blood and Marrow Transplantation; MAR 21-24, 2010; Vienna, AUSTRIA.
Sedlmayr, P; Kroneis, T; Petek, E (2010): Microchimerism: implications for immunology and prenatal diagnosis AMER J REPROD IMMUNOL. 2010; 64: 6-6.-. 2nd International Conference on Reproductive Immunology; NOV 28 - DEC 2, 2010; Shanghai. CHINA.
Zinke-Cerwenka, W; Stojakovic, T; Rohn, A; Ziegler, I; Emberger, W; Sipurzynski, S; Linkesch, W; Neumeister, P (2010): First-line treatment with bortezomib, doxorubicine and dexamethasone followed by autologous peripheral blood stem cell transplantation in newly diagnosed patients with multiple myeloma BONE MARROW TRANSPLANT. 2010; 45(2):S149-S149.-36th Annual Meeting of the European Group for Blood and Marrow Transplantation; MAR 21-24, 2010; Vienna, AUSTRIA.

2009

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Begus-Nahrmann, Y; Lechel, A; Obenauf, AC; Nalapareddy, K; Peit, E; Hoffmann, E; Schlaudraff, F; Liss, B; Schirmacher, P; Kestler, H; Danenberg, E; Barker, N; Clevers, H; Speicher, MR; Rudolph, KL (2009): p53 deletion impairs clearance of chromosomal-instable stem cells in aging telomere-dysfunctional mice. Nat Genet. 2009; 41(10): 1138-1143. [Fulltext][PubMed]
Geigl, JB; Obenauf, AC; Waldispuehl-Geigl, J; Hoffmann, EM; Auer, M; Hörmann, M; Fischer, M; Trajanoski, Z; Schenk, MA; Baumbusch, LO; Speicher, MR (2009): Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays. Nucleic Acids Res. 2009; 37(15): e105-e105. [Fulltext][PubMed]
Goizet, C; Boukhris, A; Maltete, D; Guyant-Maréchal, L; Truchetto, J; Mundwiller, E; Hanein, S; Jonveaux, P; Roelens, F; Loureiro, J; Godet, E; Forlani, S; Melki, J; Auer-Grumbach, M; Fernandez, JC; Martin-Hardy, P; Sibon, I; Sole, G; Orignac, I; Mhiri, C; Coutinho, P; Durr, A; Brice, A; Stevanin, G (2009): SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology. 2009; 73(14): 1111-1119. [Fulltext][PubMed]
Liu, ZY; Obenauf, AC; Speicher, MR; Kopan, R (2009): Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS). GENOME RES. 2009; 19(11): 2081-2089. [Fulltext][PubMed]
Miltenberger-Miltenyi, G; Schwarzbraun, T; Löscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich-Schwaiger, H; Zoller, H; Utermann, G; Auer-Grumbach, M; Janecke, AR (2009): Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. Eur J Hum Genet. 2009; 17(9): 1154-1159. [Fulltext][PubMed]
Nawrot-Wawrzyniak, K; Varga, F; Nader, A; Roschger, P; Sieghart, S; Zwettler, E; Roetzer, KM; Lang, S; Weinkamer, R; Klaushofer, K; Fratzl-Zelman, N (2009): Effects of tumor-induced osteomalacia on the bone mineralization process. Calcif Tissue Int. 2009; 84(4): 313-323. [Fulltext][PubMed]
Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Arshad Rafiq, M; Khalid, M; Nasir Malik, M; Ayub, M; Alman, B; Vincent, JB (2009): Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet. 2009; 84(4): 519-523. [Fulltext][PubMed]
Pfragner, R; Behmel, A; Höger, H; Beham, A; Ingolic, E; Stelzer, I; Svejda, B; Moser, VA; Obenauf, AC; Siegl, V; Haas, O; Niederle, B (2009): Establishment and characterization of three novel cell lines - P-STS, L-STS, H-STS - derived from a human metastatic midgut carcinoid. ANTICANCER RES. 2009; 29(6): 1951-1961. [Fulltext][PubMed]
Reinisch, A; Hofmann, NA; Obenauf, AC; Kashofer, K; Rohde, E; Schallmoser, K; Flicker, K; Lanzer, G; Linkesch, W; Speicher, MR; Strunk, D (2009): Humanized large-scale expanded endothelial colony-forming cells function in vitro and in vivo. Blood. 2009; 113(26): 6716-6725. [Fulltext][PubMed]
Rotthier, A; Baets, J; De Vriendt, E; Jacobs, A; Auer-Grumbach, M; Lévy, N; Bonello-Palot, N; Kilic, SS; Weis, J; Nascimento, A; Swinkels, M; Kruyt, MC; Jordanova, A; De Jonghe, P; Timmerman, V (2009): Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain. 2009; 132(Pt 10): 2699-2711. [Fulltext][PubMed]
Schoser, B; Goebel, HH; Janisch, I; Quasthoff, S; Rother, J; Bergmann, M; Müller-Felber, W; Windpassinger, C (2009): Consequences of mutations within the C terminus of the FHL1 gene. Neurology. 2009; 73(7): 543-551. [Fulltext][PubMed]
Schule, R; Brandt, E; Karle, KN; Tsaousidou, M; Klebe, S; Klimpe, S; Auer-Grumbach, M; Crosby, AH; Hubner, CA; Schols, L; Deufel, T; Beetz, C (2009): Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics. 2009; 10(2):97-104 [Fulltext][PubMed]
Vincent, JB; Noor, A; Windpassinger, C; Gianakopoulos, PJ; Schwarzbraun, T; Alfred, SE; Stachowiak, B; Scherer, SW; Roberts, W; Wagner, K; Kroisel, PM; Petek, E (2009): Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. Am J Med Genet B Neuropsychiatr Genet. 2009; 150B(6):817-826 [Fulltext][PubMed]
Harbaum, L; Geigl, JB; Volkholz, H; Schwarzbraun, T; Oschmautz, H; Vieth, M; Langner, C (2009): Sporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasia APMIS. 2009; 117(12): 941-943. [Fulltext][PubMed]
Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P (2009): Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. J Med Genet. 2009; 46(5): 341-344. [Fulltext][PubMed]
Wiesner, T; Obenauf, AC; Geigl, JB; Vallant, EM; Speicher, MR; Fink-Puches, R; Kerl, H; Cerroni, L (2009): 9p21 deletion in primary cutaneous large B-cell lymphoma, leg type, may escape detection by standard FISH assays. J Invest Dermatol. 2009; 129(1): 238-240. [Fulltext][PubMed]
Schallmoser, K; Rohde, E; Bartmann, C; Obenauf, AC; Reinisch, A; Strunk, D (2009): Platelet-derived growth factors for GMP-compliant propagation of mesenchymal stromal cells. Biomed Mater Eng. 2009; 19(4-5): 271-276. [Fulltext][PubMed]
Jahn, S; Minai-Pour, MB; Speicher, MR; Reiner-Concin, A; Hoefler, G (2009): Comprehensive screening for Lynch syndrome: who can be the driving force in daily clinical practice? J CLIN ONCOL. 2009; 27(13): 2292-2292. [Fulltext][PubMed]
Baumbusch, LO; Geigl, JB; Riethdorf, S; Schneider, IJ; Mathiesen, RMR; Fjelldal, R; Borresen-Dale, AL; Pantel, K; Speicher, MR; Naume, B (2009): Molecular signatures of disseminated tumour cells in metastatic breast cancer patients EJC SUPPL. 2009; 7(2):113-114.-34th ESMO Multidisciplinary Congress BERLIN; 20–24 SEPTEMBER 2009 ; Berlin.
Pfragner, R; Hoeger, H; Behmel, A; Beham, A; Stelzer, I; Obenauf, AC; Haas, HS; Ingolic, E; Siegl, V; Aguiriano-Moser, V; Svejda, B; Haas, O; Niederle, B (2009): In vitro- and in vivo-models of human neuroendocrine tumors: three novel transplantable cell lines from metastatic midgut carcinoid. AMINO ACIDS. 2009; 37: 103-103.-11th International Congress on Amino Acids, Peptides and Proteins; AUG 3-7; Vienna.
Reinisch, A; Hofmann, NA; Obenauf, A; Kashofer, K; Rohde, E; Schallmoser, K; Thaler, D; Fruehwirth, M; Flicker, K; Linkesch, W; Speicher, M; Strunk, D (2009): Vascular regeneration by adult blood-derived endothelial colony-forming cells expanded under animal serum-free conditions BONE MARROW TRANSPLANT. 35th Annual Meeting of the European Group for Blood and Marrow Transplantation2009; 43(1):S19-S20.-35th Annual Meeting of the European Group for Blood and Marrow Transplantation; MAR 29-APR 01, 2009; Goteborg, SWEDEN.
Roetzer, KM; Laccone, F; Krebs, A; Grill, F; Robins, S; Varga, F; Klaushofer, K; Al Kaissi, A (2009): Novel mutation in the carboxyl-terminal propeptide of the procollagen alpha 1 (I) chain in a girl with prenatal cortical hyperostosis and multiple fractures BONE. 2009; 45: S81-S81.-ICCBH5; JUN 23-26, 2009; Cambridge, UK.
Schallmoser, K; Rohde, E; Reinisch, A; Obenauf, A; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D (2009): Evidence for genomic stability of bone marrow-derived MSCS after large-scale expansion in a humanised system. BONE MARROW TRANSPLANT. 35th Annual Meeting of the European Group for Blood and Marrow Transplantation2009; 43(1):S187-S187.-35th Annual Meeting of the European Group for Blood and MarrowTransplantation; MAR 29-APR 01, 2009; Goteborg, SWEDEN.
Scheffer, A; Yamada, NA; Ach, R; Tsang, P; Carr, E; Aleksic, K; Sampas, N; Peter, BJ; Speicher, M; Bruhn, L (2009): High-Resolution Cytogenetic Analysis Using Customized Oligonucleotide-Based Fluorescence in situ Hybridization (FISH) J MOL DIAGN. 2009; 11(6):675-675.
Schwarzbraun, T; Wang, LHC; Obenauf, AC; Ulz, P; Nigg, EA; Speicher, MR (2009): MITOSIS UPDATED - PICH AND THE ANAPHASE THREADS CELL ONCOL. 2009; 31(2):90-91.-3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD); APR 01-05, 2009; Edinburgh, SCOTLAND.
Thomas, W; Obenauf, AC; Speicher, MR; Cerroni, L (2009): Genomic characterisation of blastic plasmacytoid dendritic cell neoplasms by array CGH J INVEST DERMATOL. JID2009; 129: S73-S73.-39th Annual Meeting of the ESDR; SEP 9-12, 2009; Budapest, HUNGARY.

2008

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Auer-Grumbach, M; Fischer, C; Papic, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR (2008): Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. Neuropediatrics. 2008; 39(1): 33-38. [Fulltext][PubMed]
Dierick, I; Baets, J; Irobi, J; Jacobs, A; De Vriendt, E; Deconinck, T; Merlini, L; Van den Bergh, P; Rasic, VM; Robberecht, W; Fischer, D; Morales, RJ; Mitrovic, Z; Seeman, P; Mazanec, R; Kochanski, A; Jordanova, A; Auer-Grumbach, M; Helderman-van den Enden, ATJM; Wokke, JHJ; Nelis, E; De Jonghe, P; Timmerman, V (2008): Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain. 2008; 131(Pt 5):1217-1227 [Fulltext][PubMed]
Geigl, J; Speicher, M (2008): New methods of single-cell analysis in research and diagnostics MED GENET. 2008; 20(4): 407-415. [Fulltext]
Knüchel-Clarke, R; Koufou, SV; Speicher, M; Schwamborn, K; Zaak, D; Stöhr, R (2008): Precancerous lesions of the urothelium. From Feulgen staining to single cell CGH Pathologe. 2008; 29(5):364-370 [Fulltext][PubMed]
Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B (2008): Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1). Clin Genet. 2008; 73(5): 492-495. [Fulltext][PubMed]
Mann, K; Petek, E; Pertl, B (2008): Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR. Methods Mol Biol. 2008; 444(4):71-94 [Fulltext][PubMed]
Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Siddiqui, ZK; Naeem, F; Paterson, AD; Lutfullah, M; Vincent, JB; Ayub, M (2008): CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008; 82(4):1011-1018 [Fulltext][PubMed]
Schallmoser, K; Rohde, E; Reinisch, A; Bartmann, C; Thaler, D; Drexler, C; Obenauf, AC; Lanzer, G; Linkesch, W; Strunk, D (2008): Rapid large-scale expansion of functional mesenchymal stem cells from unmanipulated bone marrow without animal serum. Tissue Eng Part C Methods. 2008; 14(3): 185-196. [Fulltext][PubMed]
Schulz, AL; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hubner, CA; Korenke, GC; Konig, R; Kress, W; Kruger, G; Meinecke, P; Mucke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M (2008): Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet. 2008; 73(1):62-70 [Fulltext][PubMed]
Stolte, T; Hosel, V; Mueller, J; Speicher, M (2008): Modeling clonal expansion from M-FISH experiments. J COMPUT BIOLOGY. 2008; 15(2): 221-230. [Fulltext][PubMed]
Wang, LH; Schwarzbraun, T; Speicher, MR; Nigg, EA (2008): Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation. Chromosoma. 2008; 117(2): 123-135. [Fulltext][PubMed]
Windpassinger, C; Schoser, B; Straub, V; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, WN; Wagner, K; Lochmüller, H; Vincent, JB; Quasthoff, S (2008): An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008; 82(1): 88-99. [Fulltext][PubMed]
Zacherl, M; Sourij, H; Beham, A; Emberger, W; Leithner, A; Windhager, W (2008): Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon Orthopade. 2008; 37(7):704-708 [Fulltext][PubMed]
Regauer, S; Emberger, W; Reich, O; Pfragner, R (2008): Cytogenetic analyses of two new cases of endometrial stromal sarcoma--non-random reciprocal translocation t(10;17)(q22;p13) correlates with fibrous ESS. Histopathology. 2008; 52(6):780-783 [Fulltext][PubMed]
Auer-Grumbach, M (2008): Hereditary sensory neuropathy type I. Orphanet J Rare Dis. 2008; 3(6):7-7 [Fulltext][PubMed]
Geigl, JB; Obenauf, AC; Schwarzbraun, T; Speicher, MR (2008): Defining 'chromosomal instability'. Trends Genet. 2008; 24(2): 64-69. [Fulltext][PubMed]
Speicher, MR (2008): Future of cytogenetics MED GENET. 2008; 20(4): 349-352. [Fulltext]
Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Paterson, AD; Lutufullah, M; Doherty, D; Vincent, JB; Ayub, M (2008): Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008; 83(5): 656-656. [Fulltext][PubMed]
Fiegl, M; Erdel, M; Tinhofer, I; Hopfinger, G; Eigenberger, K; Falkner, F; Falkner, A; Brychtova, Y; Panovska, A; Doubek, M; Zabernigg, A; Sodia, S; Muhlberger, H; Gastl, G; Mayer, J; Greil, R (2008): Clinical Outcome of B-Cell Chronic Lymphocytic Leukemia Following Alemtuzumab Therapy: Retrospective Study within Various Cytogenetic Risk Categories BLOOD. 2008; 112(11): 1085-1085.
Pfragner, R; Behmel, A; Hoeger, H; Ingolic, E; Beham, A; Siegl, V; Haas, O; Niederle, B (2008): ESTABLISHMENT AND CHARACTERIZATION OF THREE NOVEL CELL LINES DERIVED FROM HUMAN METASTATIC NEUROENDOCRINE TUMOR (NET) ANTICANCER RES. 2008; 28(5C):532--8th International Conference of Anticancer Research; Oct 17-22, 2008; Kos, GREECE.
Reinisch, A; Hofmann, NA; Obenauf, A; Kashofer, K; Rohde, E; Schallmoser, K; Thaler, D; Fruehwirth, M; Linkesch, W; Speicher, M; Strunk, D (2008): Making Functional Endothelial Progenitors: Humanized Large-scale Animal Serum-free Propagated Adult Blood-derived Endothelial Colony-forming Cells Assemble Stable Perfused Vessels In vivo. Fiftieth Annual Meeting Abstracts2008; 112(11):659-659.-American Society of Hematology 50th Annual Meeting and Exposition; DEC 6-9, 2008; San Francisco, USA.
Sarkozy, A; Bushby, K; Hilton-Jones, D; Dougan, CF; Lochmuller, H; Windpassinger, C; Straub, V (2008): Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene NEUROMUSCULAR DISORD. 2008; 18(9-10):819-819.-13th International Congress of the World-Muscle-Society; SEP 29-OCT 02, 2008; Newcastle upon Tyne, ENGLAND.
Schallmoser, K; Rohde, E; Reinisch, A; Obenauf, AC; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D (2008): Genomic stability and safety of MSCs after animal serum-free humanized clinical scale propagation. Fiftieth annual meeting abstracts2008; 112(11):805-805.-American Society of Hematology 50th Annual Meeting and Exposition; DEC 6-9, 2008; San Francisco, USA.
Quasthoff, S; Windpassinger C; Schoser B; Hochmeister S; Straub V; Lohberger B; Petek E; Schwarzbraun T; Wagner K, Löscher WN; Lochmüller H; Farra N; Ofner L; Mikhailov A; Vincent JB (2008): FHL1 Gene mutation associated myopathy: a novel class of inherited myopathies. . 2008; 255(2): 33-33.
Schallmoser, K; Rohde, E; Reinisch, A; Obenauf, A; Speicher, M; Bartmann, C; Lanzer, G; Linkesch, W; Strunk, D (2008): Minimum requirements for fully humanised clinical scale propagation of multipotent mesenchymal stromal cells. . 2008; 41(1): S314-S314.

2007

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Deutsch, AJ; Aigelsreiter, A; Staber, PB; Beham, A; Linkesch, W; Guelly, C; Brezinschek, RI; Fruhwirth, M; Emberger, W; Buettner, M; Beham-Schmid, C; Neumeister, P (2007): MALT lymphoma and extranodal diffuse large B-cell lymphoma are targeted by aberrant somatic hypermutation. Blood. 2007; 109(8):3500-3504 [Fulltext][PubMed]
Fiegler, H; Geigl, JB; Langer, S; Rigler, D; Porter, K; Unger, K; Carter, NP; Speicher, MR (2007): High resolution array-CGH analysis of single cells. Nucleic Acids Res. 2007; 35(3): e15-e15. [Fulltext][PubMed]
Geigl, JB; Speicher, MR (2007): Single-cell isolation from cell suspensions and whole genome amplification from single cells to provide templates for CGH analysis. Nat Protoc. 2007; 2(12): 3173-3184. [Fulltext][PubMed]
Körner, H; Epanchintsev, A; Berking, C; Schuler-Thurner, B; Speicher, MR; Menssen, A; Hermeking, H (2007): Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma. CELL CYCLE. 2007; 6(2): 189-198. [Fulltext][PubMed]
Kupper, K; Kolbl, A; Biener, D; Dittrich, S; von Hase, J; Thormeyer, T; Fiegler, H; Carter, NP; Speicher, MR; Cremer, T; Cremer, M (2007): Radial chromatin positioning is shaped by local gene density, not by gene expression CHROMOSOMA. 2007; 116(3): 285-306. [Fulltext]
Mach, M; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E (2007): Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype. Genet Couns. 2007; 18(1):9-16 [PubMed]
Miltenberger-Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer-Grumbach, M; Löscher, WN (2007): Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol. 2007; 64(7):966-970 [Fulltext][PubMed]
Oliveira, JR; Sobrido, MJ; Spiteri, E; Hopfer, S; Meroni, G; Petek, E; Baquero, M; Geschwind, DH (2007): Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification (Fahr's disease). J Mol Neurosci. 2007; 33(2): 151-154. [PubMed]
Petek, E; Schwarzbraun, T; Noor, A; Patel, M; Nakabayashi, K; Choufani, S; Windpassinger, C; Stamenkovic, M; Robertson, MM; Aschauer, HN; Gurling, HM; Kroisel, PM; Wagner, K; Scherer, SW; Vincent, JB (2007): Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics. 2007; 277(1):71-81 [Fulltext][PubMed]
Rohkamm, B; Reilly, MM; Lochmuller, H; Schlotter-Weigel, B; Barisic, N; Schols, L; Laura, M; Janecke, AR; Miltenberger-Miltenyi, G; John, E; Fischer, C; Grill, F; Wakeling, W; Davis, M; Pieber, TR; Auer-Grumbach, M; Nicholson, G; Pareyson, D (2007): Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J NEUROL SCI. 2007; 263(1-2): 100-106. [Fulltext][PubMed]
Schwarzbraun, T; Ofner, L; Gillessen-Kaesbach, G; Schaperdoth, B; Preisegger, KH; Windpassinger, C; Wagner, K; Petek, E; Kroisel, PM (2007): A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes. Am J Med Genet A. 2007; 143(6): 619-624. [Fulltext][PubMed]
Uhrig, S; Geigl, JB; Speicher, MR (2007): Genetic counseling in multiple pregnancies Gynakol Geburtshilfliche Rundsch. 2007; 47(1): 9-13. [Fulltext][PubMed]
Varon, R; Müer, A; Wagner, K; Zierler, H; Sodia, S; Rauter, L; Petek, E; Tönnies, H; Neitzel, H; Sperling, K; Kroisel, PM (2007): Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. Am J Med Genet A. 2007; 143(1):92-94 [Fulltext][PubMed]
Uhrig, S; Schlembach, D; Waldispuehl-Geigl, J; Schaffer, W; Geigl, J; Klopocki, E; Mundlos, S; Speicher, MR (2007): Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. Am J Hum Genet. 2007; 81(4): 866-868. [Fulltext][PubMed]
Speicher, MR; Higgins, JJ (2007): Hybridize and personalize: the new age of syndromal mental retardation diagnostics. NEUROLOGY. 2007; 68(10): 721-722. [Fulltext][PubMed]
Auer-Grumbach, M; Fischer, C; Duong, N; Huebner, A; John, E; Wagner, K; Speicher, M; Wehnert, M (2007): LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism? NEUROMUSCULAR DISORD. 2007; 17(9-10):799-799.
Auer-Grumbach, M; John, E; Wallefeld, W; Fischer, C; Speicher, M; Laing, N (2007): A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy NEUROMUSCULAR DISORD. 2007; 17(9-10):883-884.
Schallmoser, K; Bartmann, C; Rohde, E; Reinisch, A; Kashofer, K; Emberger, W; Lanzer, G; Linkesch, W; Strunk, D (2007): A novel system for highly efficient clinical scale propagation of human mesenchymal stem cells with human platelet lysate HAEMATOL-HEMATOL J. 2007; 92: 317-318.-12th Congress of the European Hematology Association; JUN 7-10, 2007; Vienna, AUSTRIA.
Schallmoser, K; Reinisch, A; Bartmann, C; Rohde, E; Kashofer, K; Emberger, W; Lanzer, G; Linkesch, W; Strunk, D (2007): Animal serum-free clinical scale propagation of human MSC TRANSFUSION. 2007; 47(3):28A-28A.-American Association of Blood Banks (AABB) 60th Annual Meeting; OKT 20-23, 2007; Anaheim, California, USA.
Schipf, A; Pfleghaar, K; Speicher, M; Kirchner, T; Diebold, J (2007): Chromosomal instability (CIN) in early colorectal adenoma: A FISH analysis PATHOL RES PRACT. 2007; 203(5):366-367.
Schwarzbraun, T; Pfleghaar, K; Obenauf, A; Cremer, T; Cremer, M; Speicher, M (2007): The impact of CDC4 mutations and cyclin E increase on chromosomal instability CELL ONCOL. 2007; 29(2):116-117.-MC-GARD Conference: “Molecular profiling of the genome”; Amsterdam, Netherlands.
Speicher, MR (2007): High resolution single cell analysis CHROMOSOME RES. 2007; 15: 83-84.

2006

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Geigl, JB; Uhrig, S; Speicher, MR (2006): Multiplex-fluorescence in situ hybridization for chromosome karyotyping. Nat Protoc. 2006; 1(3): 1172-1184. [Fulltext][PubMed]
Hörl, G; Kroisel, PM; Wagner, E; Tiran, B; Petek, E; Steyrer, E (2006): Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. Atherosclerosis. 2006; 187(1): 101-109. [Fulltext][PubMed]
Kure, S; Kato, K; Dinopoulos, A; Gail, C; deGrauw, TJ; Christodoulou, J; Bzduch, V; Kalmanchey, R; Fekete, G; Trojovsky, A; Plecko, B; Breningstall, G; Tohyama, J; Aoki, Y; Matsubara, Y (2006): Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat. 2006; 27(4):343-352 [Fulltext][PubMed]
Langer, S; Geigl, JB; Wagenstaller, J; Lederer, G; Hempel, M; Daumer-Haas, C; Leifheit, HJ; Speicher, MR (2006): Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. Am J Med Genet A. 2006; 140(7):764-768 [Fulltext][PubMed]
Lundin, C; Nordström, R; Wagner, K; Windpassinger, C; Andersson, H; von Heijne, G; Nilsson, I (2006): Membrane topology of the human seipin protein. FEBS Lett. 2006; 580(9):2281-2284 [Fulltext][PubMed]
Ofner, L; Raedle, J; Windpassinger, C; Schwarzbraun, T; Kroisel, PM; Wagner, K; Petek, E (2006): Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene. J HUM GENET. 2006; 51(2): 141-146. [Fulltext][PubMed]
Schwarzbraun, T; Ullmann, R; Schubert, M; Ledinegg, M; Ofner, L; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E (2006): Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development. Cytogenet Genome Res. 2006; 115(1):84-89 [Fulltext][PubMed]
Schwarzbraun, T; Windpassinger, C; Ofner, L; Vincent, JB; Cheung, J; Scherer, SW; Wagner, K; Kroisel, PM; Petek, E (2006): Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). EUR J MED GENET. 2006; 49(4): 338-345. [Fulltext][PubMed]
Verhoeven, K; Claeys, KG; Züchner, S; Schröder, JM; Weis, J; Ceuterick, C; Jordanova, A; Nelis, E; De Vriendt, E; Van Hul, M; Seeman, P; Mazanec, R; Saifi, GM; Szigeti, K; Mancias, P; Butler, IJ; Kochanski, A; Ryniewicz, B; De Bleecker, J; Van den Bergh, P; Verellen, C; Van Coster, R; Goemans, N; Auer-Grumbach, M; Robberecht, W; Milic Rasic, V; Nevo, Y; Tournev, I; Guergueltcheva, V; Roelens, F; Vieregge, P; Vinci, P; Moreno, MT; Christen, HJ; Shy, ME; Lupski, JR; Vance, JM; De Jonghe, P; Timmerman, V (2006): MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006; 129(Pt 8):2093-2102 [Fulltext][PubMed]
Winner, B; Gross, C; Uyanik, G; Schulte-Mattler, W; Lürding, R; Marienhagen, J; Bogdahn, U; Windpassinger, C; Hehr, U; Winkler, J (2006): Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature. Clin Neurol Neurosurg. 2006; 108(7):692-698 [Fulltext][PubMed]
Zebisch, A; Staber, PB; Delavar, A; Bodner, C; Hiden, K; Fischereder, K; Janakiraman, M; Linkesch, W; Auner, HW; Emberger, W; Windpassinger, C; Schimek, MG; Hoefler, G; Troppmair, J; Sill, H (2006): Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia. Cancer Res. 2006; 66(7):3401-3408 [Fulltext][PubMed]
Auer-Grumbach, M; Mauko, B; Auer-Grumbach, P; Pieber, TR (2006): Molecular genetics of hereditary sensory neuropathies. NEUROMOL MED. 2006; 8(1-2): 147-158. [Fulltext][PubMed]
Verhoeven, K; Timmerman, V; Mauko, B; Pieber, TR; De Jonghe, P; Auer-Grumbach, M (2006): Recent advances in hereditary sensory and autonomic neuropathies. CURR OPIN NEUROL. 2006; 19(5): 474-480. [Fulltext][PubMed]
Claeys, K; Ivanova, N; Deconinck, T; Litvinenko, I; Jordanova, A; Loefgren, A; Nelis, E; Mercelis, R; Auer-Grumbach, M; Priller, J; Ceulemans, B; Sereda, M; Kremensky, I; Mitev, V; De Jonghe, P (2006): SPG3A mutations are associated with pure and complex forms of Hereditary Spastic Paraplegia NEUROMUSCULAR DISORD. 16: S63-S63.
Mayr, C; Schulz, C; Stilgenbauer, S; Krober, A; Dohner, H; Jager, U; Kainz, B; Hopfinger, G; Hoffmann, R; Wendtner, C; Hallek, M; Speicher, MR (2006): Occurrence of chromosomal translocations as independent prognostic factor in chronic lymphocytic leukemia. BLOOD. 2006; 108(11): 590A-590A.
Vincent, J; Marsha, C; Noor, A; Windpassinger, C; Horike, S; Choufani, S; Stachowiak, B; Skaug, J; Sloman, L; Kroisel, P; Petek, E; Roberts, W; Scherer, S (2006): Molecular analysis of 8 autism patients with cytogenetic abnormalities AM J MED GENET PART B. 714-714.
Zgonc, V; Leonardis, L; Auer-Grumbach, M; Strom, TM; Wagenstaller, J; Mauko, B; Pieber, TR; Zidar, J (2006): A new type of Hereditary Ulcero-Mutilating Neuropathy in Slovene kinship unlinked to Hereditary Sensory Neuropathy Type 1 and Charcot-Marie-Tooth disease Type 2B loci NEUROMUSCULAR DISORD. 2006; 16: S132-S133.

2005

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Auer-Grumbach, M; Schlotter-Weigel, B; Lochmüller, H; Strobl-Wildemann, G; Auer-Grumbach, P; Fischer, R; Offenbacher, H; Zwick, EB; Robl, T; Hartl, G; Hartung, HP; Wagner, K; Windpassinger, C; Austrian Peripheral Neuropathy Study Group (2005): Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005; 57(3):415-424 [Fulltext][PubMed]
Ledig, S; Jakubiczka, S; Neulen, J; Aulepp, U; Burck-Lehmann, U; Mohnike, K; Thiele, H; Zierler, H; Brewer, C; Wieacker, P (2005): Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res. 2005; 63(6):263-269 [Fulltext][PubMed]
Schuster, A; Weisschuh, N; Jägle, H; Besch, D; Janecke, AR; Zierler, H; Tippmann, S; Zrenner, E; Wissinger, B (2005): Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 2005; 89(10):1258-1264 [Fulltext][PubMed]
Singer, G; Schalamon, J; Ainoedhofer, H; Petek, E; Kroisel, PM; Höllwarth, ME (2005): Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. J PEDIAT SURG. 2005; 40(11): e47-e50. [Fulltext][PubMed]
Uzun, S; Gökçe, S; Wagner, K (2005): Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. TOHOKU J EXP MED. 2005; 207(4): 279-285. [Fulltext][PubMed]
Wölfler, A; Erkeland, SJ; Bodner, C; Valkhof, M; Renner, W; Leitner, C; Olipitz, W; Pfeilstöcker, M; Tinchon, C; Emberger, W; Linkesch, W; Touw, IP; Sill, H (2005): A functional single-nucleotide polymorphism of the G-CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome. Blood. 2005; 105(9):3731-3736 [Fulltext][PubMed]
Emberger, W; Regauer, S; Sodial, S; Reich, O; Zierler, H; Wagner, K; Pfragner, R (2005): Endometrial stromal sarcoma: cytogenetic and molecular cytogenetic analyses EUR J CELL BIOL 2005 84: 17-17.

2004

Originalarbeiten (Zeitschrift)

Author(s)Title, JournalLink(s)
Bache, I; Assche, EV; Cingoz, S; Bugge, M; Tümer, Z; Hjorth, M; Lundsteen, C; Lespinasse, J; Winther, K; Niebuhr, A; Kalscheuer, V; Liebaers, I; Bonduelle, M; Tournaye, H; Ayuso, C; Barbi, G; Blennow, E; Bourrouillou, G; Brondum-Nielsen, K; Bruun-Petersen, G; Croquette, MF; Dahoun, S; Dallapiccola, B; Davison, V; Delobel, B; Duba, HC; Duprez, L; Ferguson-Smith, M; Fitzpatrick, DR; Grace, E; Hansmann, I; Hultén, M; Jensen, PK; Jonveaux, P; Kristoffersson, U; Lopez-Pajares, I; McGowan-Jordan, J; Murken, J; Orera, M; Parkin, T; Passarge, E; Ramos, C; Rasmussen, K; Schempp, W; Schubert, R; Schwinger, E; Shabtai, F; Smith, K; Stallings, R; Stefanova, M; Tranebjerg, L; Turleau, C; van der Hagen, CB; Vekemans, M; Vokac, NK; Wagner, K; Wahlstroem, J; Zelante, L; Tommerup, N (2004): An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004; 12(12): 993-1000. [Fulltext][PubMed]
Chen, YZ; Bennett, CL; Huynh, HM; Blair, IP; Puls, I; Irobi, J; Dierick, I; Abel, A; Kennerson, ML; Rabin, BA; Nicholson, GA; Auer-Grumbach, M; Wagner, K; De Jonghe, P; Griffin, JW; Fischbeck, KH; Timmerman, V; Cornblath, DR; Chance, PF (2004): DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004; 74(6):1128-1135 [Fulltext][PubMed]
Evgrafov, OV; Mersiyanova, I; Irobi, J; Van Den Bosch, L; Dierick, I; Leung, CL; Schagina, O; Verpoorten, N; Van Impe, K; Fedotov, V; Dadali, E; Auer-Grumbach, M; Windpassinger, C; Wagner, K; Mitrovic, Z; Hilton-Jones, D; Talbot, K; Martin, JJ; Vasserman, N; Tverskaya, S; Polyakov, A; Liem, RK; Gettemans, J; Robberecht, W; De Jonghe, P; Timmerman, V (2004): Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004; 36(6):602-606 [Fulltext][PubMed]
Irobi, J; Van den Bergh, P; Merlini, L; Verellen, C; Van Maldergem, L; Dierick, I; Verpoorten, N; Jordanova, A; Windpassinger, C; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P (2004): The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. BRAIN. 2004; 127(Pt 9): 2124-2130. [Fulltext][PubMed]
Runte, M; Kroisel, PM; Gillessen-Kaesbach, G; Varon, R; Horn, D; Cohen, MY; Wagstaff, J; Horsthemke, B; Buiting, K (2004): SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet. 2004; 114(6):553-561 [Fulltext][PubMed]
Schmidt, HH; Strehl, S; Thaler, D; Strunk, D; Sill, H; Linkesch, W; Jäger, U; Sperr, W; Greinix, HT; König, M; Emberger, W; Haas, OA (2004): RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications. Leukemia. 2004; 18(6):1115-1121 [Fulltext][PubMed]
Schwarzbraun, T; Vincent, JB; Schumacher, A; Geschwind, DH; Oliveira, J; Windpassinger, C; Ofner, L; Ledinegg, MK; Kroisel, PM; Wagner, K; Petek, E (2004): Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Genomics. 2004; 84(3):577-586 [Fulltext][PubMed]
Windpassinger, C; Auer-Grumbach, M; Irobi, J; Patel, H; Petek, E; Hörl, G; Malli, R; Reed, JA; Dierick, I; Verpoorten, N; Warner, TT; Proukakis, C; Van den Bergh, P; Verellen, C; Van Maldergem, L; Merlini, L; De Jonghe, P; Timmerman, V; Crosby, AH; Wagner, K (2004): Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004; 36(3):271-276 [Fulltext][PubMed]
Kroisel, PM; Windpassinger, C; Wagner, K; Petek, E; Vincent, JB; Scherer, SW; Spiel, G; Artner, V; Valtiner, E (2004): De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. Am J Med Genet A. 2004; 129A(1):98-100 [Fulltext][PubMed]
Auer-Grumbach, M (2004): Hereditary sensory neuropathies. Drugs Today (Barc). 2004; 40(5):385-394 [PubMed]
Sedlmayr, P; Hennerbichler, S; Schulz, E; Petek, E; Pertl, B; Wintersteiger, R; Kroisel, P; Dohr, G (2004): Non-invasive prenatal diagnostics using slide-based cytometry CYTOMETRY PART A 2004 60A: 200-200.
Zebisch, A; Staber, PB; Fischereder, K; Bodner, C; Hiden, K; Linkesch, W; Auner, HW; Emberger, W; Windpassinger, C; Schimek, MG; Hoefler, G; Troppmair, J; Sill, H (2004): Two novel activating germline mutations of the C-RAF proto-oncogene predisposing to solid tbmors and therapy-related acute myeloid leukemia. BLOOD 2004 104: 920A-920A.
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