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News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… institute and their international collaborators have added williams -beuren syndrome to the atlas of human malformation syndromes in … images and clinical information of diverse people with williams -beuren syndrome to the atlas , healthcare providers …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… factor sox10 , which is associated with waardenburg syndrome iv and with human melanoma, and also identified the … disease and melanocyte deficiencies of waardenburg (ws) syndrome. subsequently, germline sox10 mutations were … res . 30(3):339-352. 2017. [ pubmed ] chandler rj, williams im, gibson al, davidson cd, incao aa, hubbard bt, …
Staff
Dr. William A. Gahl is the Clinical Director for the National Human Genome Research Institute and the director of the NIH Undiagnosed Diseases Program.
… his group described the natural history of lowe syndrome , alkaptonuria, autosomal recessive polycystic … disease, gne myopathy, and hermansky-pudlak syndrome (hps), a disorder of oculocutaneous albinism, … his lab discovered the genetic bases of gray platelet syndrome , hartnup disease, arterial calcification due to …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and latin americans. … the disease, 22q11.2 deletion syndrome , also known as digeorge syndrome and … team of researchers will next study noonan syndrome and williams syndrome , both of which are rare but seen by many … malformations in diverse populations, noonan syndrome , williams syndrome … nhgri researchers have successfully used …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… natural history of numerous diseases, including proteus syndrome, pik3ca-related overgrowth syndrome, tarp syndrome, oculofaciocardiodental syndrome, … a, nussbaum rl, o'daniel jm, ormond k, rehm h, watson ms, williams ms, biesecker lg. acmg recommendations for reporting …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes hutchinson-gilford progeria syndrome, a rare condition that causes premature aging. dr. … of medical genetics, 2nd ed. baltimore: lippincott, williams & wilkins, 1998. … biography … scientific summary … …
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… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … of Human Malformation syndromes in Diverse populations ( Williams Syndrome , … , 22q11.2 Syndrome , Turner Syndrome , Noonan Syndrome , Williams Syndrome ). (University of Sri Lanka and NHGRI, …
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… Institute Director, William S. Smilow Center for Marfan Syndrome Research Institute of Genetic Medicine Professor of …
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… and potential future demand3McGrath, S.P., Walton, N., Williams , M.S.et al.Are providers prepared for genomic … and testing strategies to improve inherited cancer syndrome case ascertainment (RFA-CA-17-041, RFA-CA-19-017 and …
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… Cancer Ctr Mary Relling St. Jude Dan Roden Vanderbilt Marc Williams Geisinger Eric Green NHGRI Melpi Kasapi NHGRI Teri … Quality Forum (NQF) • Tumor-based screening for Lynch syndrome followed by cascade screening in relatives • BRCA1/2 … Howard Jacob, Howard McLeod, Mary Relling, Dan Roden, Marc Williams Timeline of NHGRI Genomic Medicine Programs Program …