D. Wand

发表

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Lara E. Sucheston-Campbell, 2017, Nature Genetics.

Typical hormonal profiles are accompanied by increased immunoreactivity of theca folliculi steroid 17α-hydroxylase P450 in polycystic ovary syndrome

D. Wand, W. Trzeciak, K. Katulski, 1998, Journal of endocrinological investigation.

Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia

I. Kaitila, C. Boerkoel, D. Milford, 2005, American journal of medical genetics. Part A.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, D. Lewis, 2012, Orphanet Journal of Rare Diseases.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

Male breast cancer in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, F. Couch, 2018 .

Expanding the spectrum of TBX5 mutations in Holt‐Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

M. Bamshad, K. Chrzanowska, J. Mcgaughran, 2006, Human mutation.

SOX10 mutation with peripheral amyelination and developmental disturbance of axons

M. Kornhuber, J. Weis, D. Wand, 2012, Muscle & nerve.

The 9p24.3 Breakpoint of a Constitutional t(6;9)(p12;p24) in a Patient with Chronic Lymphocytic Leukemia Maps Close to the Putative Promoter Region of the DMRT2 Gene

J. Rüssel, I. Hansmann, D. Wand, 2009, Cytogenetic and Genome Research.

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

R. Nussbaum, D. Steinemann, F. Couch, 2016, Breast Cancer Research.

Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature

J. Weigel, M. Bernhard, D. Wand, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

D. Steinemann, F. Couch, O. Olopade, 2017, Journal of Clinical Oncology.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings

R. Heller, E. Klopocki, W. Kiess, 2011, American journal of medical genetics. Part A.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

R. Redon, S. Küry, J. Thevenon, 2019, Genetics in Medicine.

Gelsolin-Amyloidosis – An Exceptional Cause of Blepharochalasis

D. Goldblum, D. Wand, M. Sinnreich, 2021, Klinische Monatsblätter für Augenheilkunde.

Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

J. Graham, W. Wilcox, I. Hansmann, 2014, Clinical genetics.