Publications 2003
- (2003) Genome scan for childhood and adolescent obesity in German families. Pediatrics. 2003;111(2): 321-7
- (2003) Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p. Hum Mol Genet. 2003;12(11): 1273-7
- (2003) Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. Leuk Lymphoma. 2003;44(11): 1931-4
- (2003) Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci. Exp Dermatol. 2003;12(4): 490-6
- (2003) Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma. 2003;12(1): 27-30
- (2003) Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. Neurogenetics. 2003;4(4): 191-7
- (2003) A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet. 2003;11(2): 170-8
- (2003) Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 2003;120(2): 224-8
- (2003) Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet. 2003;112(1): 50-6
- (2003) Molecular modes of action of cephalotaxine and homoharringtonine from the coniferous tree Cephalotaxus hainanensis in human tumor cell lines J Chromatogr A. 2003;367(1): 56-67
- (2003) Positional cloning of COH1, a novel membrane transport protein mutated in patients with Cohen syndrome. Am J Hum Genet. 2003;73(5): 169-169
- (2003) Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 suggests a role in susceptibility to psoriasis arthritis rather than psoriasis vulgaris. Am J Hum Genet. 2003;73(5): 183-183
- (2003) Assessment of association between TBX1 variants and haplotypes with manifestiation of congenital heart defects in 22q11.2 deletion patients Am J Hum Genet. 2003;73(5): 290-290
- (2003) SNP frequency, haplotype structure and linkage disequilibriurn in human FBN1-gene Am J Hum Genet. 2003;73(5): 488-488
- (2003) Genetic association of psoriasis arthritis to the candidate gene SLC12A8 on chromosome 3q Arthritis Rheum. 2003;48 Suppl.(9): S406-S406
- (2003) Complex rearrangements cause hypertension and brachydactyly on the short arm of chromosome 12 Hypertension. 2003;42(3): 443-443
- (2003) Hypertension and brachydactyly on the short arm of chromosome 12 are caused by complex rearrangements Hypertension. 2003;42(4): 629-629
- (2003) Molecular modes of action of artesunate in tumor cell lines. Mol Pharmacol. 2003;64(2): 382-94
- (2003) Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a comprehensive molecular cytogenetic analysis reveals no cryptic aberrations. Cancer Genet Cytogenet. 2003;146(1): 81-3
- (2003) Loss of 9p21 is embedded in a complex but consistent pattern of genomic imbalances in oral squamous cell carcinomas. Cytogenet Genome Res. 2003;101(2): 106-12
- (2003) Identification of gene expression profiles predicting tumor cell response to L-alanosine. Biochem Pharmacol. 2003;66(4): 613-21
- (2003) Analysis of single nucleotide polymorphism C3435T of the multidrug resistance gene MDR1 in acute lymphoblastic leukemia. Int J Oncol. 2003;23(2): 509-17
- (2003) Specific patterns of DNA copy number gains and losses in eight new glioblastoma multiforme cell lines. Int J Oncol. 2003;23(2): 453-60
- (2003) A novel 5q35.3 subtelomeric deletion syndrome. Am J Med Genet A. 2003;121(1): 1-8
- (2003) Grebe dysplasia and the spectrum of CDMP1 mutations. Pediatr Pathol Mol Med. 2003;22(1): 77-85
- (2003) A novel myosin heavy chain gene in human chromosome 19q13.3. Gene. 2003;312(): 165-71
- (2003) Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet. 2003;40(8): e99
- (2003) WHSC4 - a novel ncRNA gene in the Wolf-Hirschhorn Syndrome critical region 1. Am J Hum Genet. 2003;73(5): 342-342
- (2003) WHSC5-A novel candidate gene for neurological features of Wolf-Hirschhorn Syndrome. Am J Hum Genet. 2003;73(5): 343-343
- (2003) Molecular identification of novel genes, especially transcription factors, from a human fetal growth plate cartilage library. Am J Hum Genet. 2003;73(5): 346-346
- (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003;40(7): 473-8
- (2003) Spectrum of arterial obstructions caused by one elastin gene point mutation. Eur J Pediatr. 2003;162(1): 53-4
- (2003) Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003;73(2): 404-11
- (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet. 2003;40(8): 601-5
- (2003) In vivo diagnosis of infantile Alexander disease by molecular genetic analysis of GFAP gene. Case report Monatsschr Kinderheilkd. 2003;151(3): 311-314
- (2003) Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. Am J Med Genet A. 2003;116(4): 385-8
- (2003) A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions (vol 126, pg 1545, 2003) Brain. 2003;126(): -
- (2003) Problems in detecting mosaic DNA methylation in Angelman syndrome. Eur J Hum Genet. 2003;11(12): 913-5
- (2003) Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS). Genet Couns. 2003;14(3): 281-8
- (2003) Comments on Am J Med Genet A. 2003;119A(3): 400-400
- (2003) Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy Am J Hum Genet. 2003;73(5): 1106-1119
- (2003) Molecular variability of monogenic peripheral neuropathies Dtsch Z Nervenheilkd. 2003;22(3): 116-+
- (2003) Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet. 2003;73(6): 1341-54
- (2003) Mutations in ZNF41 are associated with cognitive deficits Am J Hum Genet. 2003;73(5): 573-573
- (2003) Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum. 2003;48(8): 2386-8
- (2003) Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Hum Mutat. 2003;21(1): 100
- (2003) Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis. Br J Dermatol. 2003;149(2): 381-5
- (2003) Comments on "osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance". Am J Med Genet A. 2003;119(3): 400
- (2003) Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. Hum Genet. 2003;112(1): 103