Publications 2005
- (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
- (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
- (2005) Novel autosomal recessive progressive hyperpigmentation syndrome. Am J Med Genet A. 2005;135(2): 195-9
- (2005) [Cervical origin of the subclavian artery: echocardiographic diagnosis in patients with monosomy 22q11] Ultraschall Med. 2005;26(1): 36-41
- (2005) Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet. 2005;42(11): 871-6
- (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
- (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
- (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
- (2005) Are telomeres a specific target for mutagenic attack by cytostatics in neoplastic cells? Int J Oncol. 2005;26(6): 1707-13
- (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
- (2005) SPOC1, a novel PHD-finger protein: Association with residual disease and survival in ovarian cancer. Int J Cancer. 2005;116(4): 547-54
- (2005) Polymorphisms in the human progesterone receptor (PGR) gene of two human prostate adenocarcinoma cell lines. Anticancer Res. 2005;25(3A): 1607-9
- (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
- (2005) Genomic imbalances in human leukemia and lymphoma detected by comparative genomic hybridization (Review). Int J Oncol. 2005;27(3): 593-606
- (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
- (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
- (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
- (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
- (2005) Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005;48(2): 97-111
- (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
- (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
- (2005) The scoliosis (sco) mouse: a new allele of Pax1. Cytogenet Genome Res. 2005;111(1): 16-26
- (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
- (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
- (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
- (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
- (2005) Expression profiling of human fetal growth plate cartilage by EST sequencing. Matrix Biol. 2005;24(8): 530-8
- (2005) Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. Neuromuscul Disord. 2005;15(11): 764-7
- (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
- (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
- (2005) Double minutes, cytogenetic equivalents of gene amplification, in human neoplasia - a review. Clin Transl Oncol. 2005;7(11): 477-485