Publikationen 2013
- (2013) Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. Am J Med Genet A. 2013;161(12): 3012-7
- (2013) Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1. Am J Hum Genet. 2013;93(6): 1046-60
- (2013) The UGT1A6_19_GG genotype is a breast cancer risk factor. Front Genet. 2013;4(): 104
- (2013) Circulating dendritic cell precursors in chronic kidney disease: a cross-sectional study. BMC Nephrol. 2013;14(): 274
- (2013) Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. Genet Med. 2013;15(3): 195-202
- (2013) Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clin Genet. 2013;83(1): 73-77
- (2013) Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiol Biomarkers Prev. 2013;22(2): 216-23
- (2013) A defect of CD16-positive monocytes can occur without disease. Immunobiology. 2013;218(2): 169-74
- (2013) Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review. Semin Arthritis Rheum. 2013;42(4): 355-60
- (2013) A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clin Genet. 2013;83(2): 162-168
- (2013) Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013;92(4): 575-83
- (2013) MicroRNA profiles classify papillary renal cell carcinoma subtypes. Br J Cancer. 2013;109(3): 714-22
- (2013) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet. 2013;92(4): 489-503
- (2013) Mutations of IL36RN in four patients with generalized pustular psoriasis of German, Turkish and Iraquian origin Exp Dermatol. 2013;22(3): E22-E22
- (2013) Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun. 2013;4(): 1628
- (2013) Reduced syncytin-1 expression levels in placental syndromes correlates with epigenetic hypermethylation of the ERVW-1 promoter region. PLoS ONE. 2013;8(2): e56145
- (2013) HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene. 2013;518(2): 267-72
- (2013) Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome. Iran J Pediatr. 2013;23(3): 363-5
- (2013) ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas. Gynecol Oncol. 2013;131(1): 8-14
- (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4): 353-61, 361e1-2
- (2013) Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Eur J Med Genet. 2013;56(11): 599-602
- (2013) GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet. 2013;45(4): 362-70, 370e1-2
- (2013) Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013;45(4): 371-84, 384e1-2
- (2013) Rare copy number variants are a common cause of short stature. PLoS Genet. 2013;9(3): e1003365
- (2013) Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol. 2013;133(11): 2634-7
- (2013) Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet. 2013;9(3): e1003284
- (2013) Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome. Cancer Epidemiol Biomarkers Prev. 2013;22(5): 987-92
- (2013) Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013;45(4): 392-8, 398e1-2
- (2013) De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet. 2013;93(1): 124-31
- (2013) Frequent inactivation of cysteine dioxygenase type 1 contributes to survival of breast cancer cells and resistance to anthracyclines. Clin Cancer Res. 2013;19(12): 3201-11
- (2013) Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis. Arthritis Rheum. 2013;65(5): 1224-31
- (2013) Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun. 2013;4(): 1627
- (2013) Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct. 2013;9(): 20
- (2013) Successful treatment with Anakinra in a Patient with generalized pustular Psoriasis and Mutations in the Gene IL36RN J Dtsch Dermatol Ges. 2013;11 8(): 14-14
- (2013) Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biol. 2013;32(7-8): 387-92
- (2013) Human intellectual disability genes form conserved functional modules in Drosophila. PLoS Genet. 2013;9(10): e1003911
- (2013) Biallelic SEMA3A defects cause a novel type of syndromic short stature. Am J Med Genet A. 2013;161A(11): 2880-9
- (2013) A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22(25): 5121-35
- (2013) A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet. 2013;50(12): 838-47
- (2013) MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013;84(): 539-545
- (2013) A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. Am J Med Genet A. 2013;161(10): 2645-51
- (2013) Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders. Eur J Med Genet. 2013;56(12): 669-73
- (2013) Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis Geburtsh Frauenheilk. 2013;73(12): 1228-1235
- (2013) Reactivation of codogenic endogenous retroviral (ERV) envelope genes in human endometrial carcinoma and prestages: emergence of new molecular targets Cancer Res. 2013;73 1(8): -