Publikationen 2006
- (2006) Various inversions, deletions, and reinsertions on chromosome 12p in autosomal-dominant hypertension with brachydactyly - A fish-study four families and one sporadic case Hypertension. 2006;48(4): E62-E63
- (2006) ECARUCA - an expanding resource for genotype-phenotype correlations of subtle cytogenetic and sub-microscopic chromosome abnormalities J Med Genet. 2006;43 Suppl.(): S102-S102
- (2006) Genotype-phenotype correlation in 22q11.2 associated syndromes J Med Genet. 2006;43 Suppl.(): S42-S42
- (2006) Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region. J Med Genet. 2006;43(6): 534-40
- (2006) The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet. 2006;43(5): 406-13
- (2006) Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet. 2006;43(6): 517-22
- (2006) [Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology] Aktuelle Urol. 2006;37(1): 64-6
- (2006) Clinical decisions for treatment of different staged bladder cancer based on multitarget fluorescence in situ hybridization assays? World J Urol. 2006;24(4): 418-22
- (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70(6): 1008-12
- (2006) Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Am J Med Genet A. 2006;140(10): 1069-73
- (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. Am J Med Genet A. 2006;140(8): 869-72
- (2006) Hereditary motor and sensory neuropathies Dtsch Z Nervenheilkd. 2006;25(4): 253-+
- (2006) Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (vol 37, pg 1345, 2005) Nat Genet. 2006;38(2): 265-265
- (2006) Developmental and metabolic disorders of the pancreas. Endocrinol Metab Clin North Am. 2006;35(2): 219-41, vii
- (2006) Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle. 2006;5(15): 1607-11
- (2006) Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Prenat Diagn. 2006;26(3): 262-6
- (2006) Magnetic resonance lung function--a breakthrough for lung imaging and functional assessment? A phantom study and clinical trial. Respir Res. 2006;7(): 106
- (2006) Identification of Alu elements mediating a partial PMP22 deletion. Neurogenetics. 2006;7(2): 119-26
- (2006) Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis. J Invest Dermatol. 2006;126(4): 932-5
- (2006) Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet. 2006;79(6): 1105-9
- (2006) Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis. 2006;12(): 523-31
- (2006) Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma. 2006;15(6): 499-504
- (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38(3): 331-6
- (2006) A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant. 2006;21(11): 3283-6
- (2006) Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. Endocrinol Metab Clin North Am. 2006;35(2): 243-53, vii-viii
- (2006) Reply to Hochstenbach et al. 'Molecular karyotyping'. Eur J Hum Genet. 2006;14(10): 1063-4
- (2006) Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis. Arthritis Rheum. 2006;54(1): 82-9
- (2006) Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140(19): 2063-74
- (2006) A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet A. 2006;140(24): 2749-56
- (2006) Lack of genetic association of the interleukin-4 receptor single-nucleotide polymorphisms I50V and Q551R with erosive disease in psoriatic arthritis. Arthritis Rheum. 2006;54(12): 4023-4
- (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet A. 2006;140(11): 1223-7
- (2006) Complex nature of genetic association of psoriasis vulgaris and psoriatic arthritis with SLC12A8 at PSORS5 Br J Dermatol. 2006;154(1): -
- (2006) Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab. 2006;88(3): 256-60
- (2006) Germline KRAS mutations cause Noonan syndrome (vol 38, pg 331, 2006) Nat Genet. 2006;38(5): 598-598
- (2006) Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome? Clin Dysmorphol. 2006;15(2): 107-10
- (2006) Haplotype analysis of frequent PRSS1 R122H mutations in Westphalia (Germany): No indication of a founder effect Pancreas. 2006;33(4): 507-507
- (2006) Klinefelter syndrome and mediastinal germ cell tumors. Am J Med Genet A. 2006;140(5): 471-81
