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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 kidney … 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, NIH). …
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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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… Institute Director, William S. Smilow Center for Marfan Syndrome Research Institute of Genetic Medicine Professor of …
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… Projects: Genetic Studies of Type 2 Diabetes; 2q Deletion Syndrome; Genetics of Childhood Renal Disease Abdel … Nigeria Project: Africa America Diabetes Mellitus Study Williams Balogun, M.D. Department of Medicine, University …