Publikationen 2005

Thiel CT, Rosanowski F, Kohlhase J, Reis A, Rauch A: (2005) Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Clin Dysmorphol. 2005;14(2): 67-71
Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus C, Rauch A, Reis A: (2005) Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Am J Med Genet A. 2005;132(2): 185-8
Hüffmeier U, Hausser I, Reis A, Rauch A: (2005) Novel autosomal recessive progressive hyperpigmentation syndrome. Am J Med Genet A. 2005;135(2): 195-9
Rauch R, Rauch A, Kaulitz R, Koch A, Zink S, Girisch M, Singer H, Hofbeck M: (2005) [Cervical origin of the subclavian artery: echocardiographic diagnosis in patients with monosomy 22q11] Ultraschall Med. 2005;26(1): 36-41
Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M: (2005) Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet. 2005;42(11): 871-6
Hüffmeier U, Traupe H, Burkhardt H, Schürmeier-Horst F, Lascorz J, Böhm B, Lohmann J, Ständer M, Wendler J, Kelsch R, Baumann C, Küster W, Wienker TF, Reis A: (2005) Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. J Invest Dermatol. 2005;124(1): 107-10
Hovhannisyan G, Rapp A, Arutyunyan R, Greulich KO, Gebhart E: (2005) Comet-assay in combination with PNA-FISH detects mutagen-induced DNA damage and specific repeat sequences in the damaged DNA of transformed cells. Int J Mol Med. 2005;15(3): 437-42
Arutyunyan R, Rapp A, Greulich KO, Hovhannisyan G, Haroutiunian S, Gebhart E: (2005) Fragility of telomeres after bleomycin and cisplatin combined treatment measured in human leukocytes with the Comet-FISH technique. Exp Oncol. 2005;27(1): 38-42
Wick U, Gebhart E: (2005) Are telomeres a specific target for mutagenic attack by cytostatics in neoplastic cells? Int J Oncol. 2005;26(6): 1707-13
Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S: (2005) Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B). Report of Three Italian Cases with Hypospadias and Review. Horm Res. 2005;63(4): 187-192
Mohrmann G, Hengstler JG, Hofmann TG, Endele SU, Lee B, Stelzer C, Zabel B, Brieger J, Hasenclever D, Tanner B, Sagemueller J, Sehouli J, Will H, Winterpacht A: (2005) SPOC1, a novel PHD-finger protein: Association with residual disease and survival in ovarian cancer. Int J Cancer. 2005;116(4): 547-54
Engehausen DG, Endele S, Krause SF, Rith T, Schrott KM, Akçetin Z: (2005) Polymorphisms in the human progesterone receptor (PGR) gene of two human prostate adenocarcinoma cell lines. Anticancer Res. 2005;25(3A): 1607-9
Engehausen DG, Krause FS, Fleischmann J, Akçetin Z, Schrott KM, Endele S: (2005) Polymorphisms of human androgen receptor (hAR) gene in prostate cancer cell lines PC-EW and PC-OR. Anticancer Res. 2005;25(3A): 1611-4
Gebhart E: (2005) Genomic imbalances in human leukemia and lymphoma detected by comparative genomic hybridization (Review). Int J Oncol. 2005;27(3): 593-606
Karst C, Heller A, Claussen U, Gebhart E, Liehr T: (2005) Detection of cryptic chromosomal aberrations in the in vitro non-proliferating cells of acute myeloid leukemia. Int J Oncol. 2005;27(2): 355-9
Lascorz J, Burkhardt H, Hüffmeier U, Böhm B, Schurmeyer-Horst F, Lohmann J, Ständer M, Wendler J, Kelsch R, Baumann C, Küster W, Traupe H, Reis A: (2005) Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort. Ann Rheum Dis. 2005;64(6): 951-4
Wick U, Kirsch M, Rauch A, Chudoba I, Lausen B, Efferth T, Gebhart E: (2005) FISH studies on the telomeric regions of the T-cell acute lymphoblastic leukemia cell line CCRF-CEM. Cytogenet Genome Res. 2005;111(1): 34-40
Wick U, Gebhart E: (2005) Studies on the action of mitomycin C and bleomycin on telomere lengths of human lymphocyte chromosomes. Int J Mol Med. 2005;16(3): 463-9
Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A: (2005) Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005;48(2): 97-111
de Brouwer AP, Kunst HP, Krebsova A, van Asseldonk K, Reis A, Snoeckx RL, Van Camp G, Cremers CW, Cremers FP, Kremer H: (2005) Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. Am J Med Genet A. 2005;137(1): 41-6
Zenker M, Pierson M, Jonveaux P, Reis A: (2005) Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. Am J Med Genet A. 2005;138(1): 73-4
Adham IM, Gille M, Gamel AJ, Reis A, Dressel R, Steding G, Brand-Saberi B, Engel W: (2005) The scoliosis (sco) mouse: a new allele of Pax1. Cytogenet Genome Res. 2005;111(1): 16-26
Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A: (2005) Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator. Am J Hum Genet. 2005;77(5): 795-806
Zweier C, Guth S, Schulte-Mattler U, Rauch A, Trautmann U: (2005) 9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic. Eur J Med Genet. 2005;48(3): 360-2
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Winterpacht A, Kwon YT, Varshavsky A, Reis A: (2005) Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet. 2005;37(12): 1345-50
Hüffmeier U, Lascorz J, Traupe H, Böhm B, Schürmeier-Horst F, Ständer M, Kelsch R, Baumann C, Küster W, Burkhardt H, Reis A: (2005) Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. J Invest Dermatol. 2005;125(5): 906-12
Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B: (2005) Expression profiling of human fetal growth plate cartilage by EST sequencing. Matrix Biol. 2005;24(8): 530-8
Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, Seeman P: (2005) Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. Neuromuscul Disord. 2005;15(11): 764-7
Mathiesen G, Huehne K, Kroeckel L, Axelsson L, Eijsink VG: (2005) Characterization of a new bacteriocin operon in sakacin P-producing Lactobacillus sakei, showing strong translational coupling between the bacteriocin and immunity genes. Appl Environ Microbiol. 2005;71(7): 3565-74
Wick U, Gebhart E: (2005) The order of PNA-FISH-detected chromosomal telomere lengths in human T-cells is rather stable, even under the influence of strong mutagens. Int J Mol Med. 2005;16(5): 951-7
Gebhart E: (2005) Double minutes, cytogenetic equivalents of gene amplification, in human neoplasia - a review. Clin Transl Oncol. 2005;7(11): 477-485

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