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Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological disorder … Scientists have classified NF into two distinct types: neurofibromatosis type 1 (NF1) and NF2. NF1, formerly known …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… of cancer occurrence. Dr. Stewart's research focuses on neurofibromatosis type 1 (NF1), a common, monogenic disorder … pathogenesis of gastrointestinal stromal tumors (GISTs) in neurofibromatosis type 1. Journal of Medical Genetics , 44: … Meyrick BO, Ross DJ. Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… National Hospital, as the Clinical Director of the Neurofibromatosis type 1 (NF1) Program and as an associate … MT. Computerized Working Memory Training for Children With Neurofibromatosis Type 1 (NF1): A Pilot Study. J Child … Smith TF, Shrewsbury AM, Thomas LR, Knopik VS, Acosta MT . Neurofibromatosis Type 1 Implicates Ras Pathways in the …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… as Marfan syndrome ( Learning About Marfan Syndrome ) and neurofibromatosis ( Learning About Neurofibromatosis ). To this end, NHGRI scientists often …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… These include many cancers, as well as some forms of neurofibromatosis. … Overview … List of Genetic Disorders … …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… genes, including those responsible for cystic fibrosis, neurofibromatosis, Huntington's disease, a familial endocrine … Brereton A, Nicholson J, Mitchell AL, Collins FS. Type 1 neurofibromatosis gene: identification of a large transcript … FS. Physical mapping of a translocation breakpoint in neurofibromatosis . Science, 244, 1085-1087. 1989. Collins …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… exome sequencing and copy-number variation analysis of 20 neurofibromatosis type 2-associated spinal and cranial …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… Widemann BC, Wilson AF, Stewart DR. Genetic Modifiers of Neurofibromatosis Type 1-Associated Cafe-au-Lait Macule Count …
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… (5), Duchenne Muscular Dystrophy (3), Achondroplasia (2), Neurofibromatosis (1); Referred cases for cardiac surgery …
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… Familial adenomatous polyposis coli Gardener syndrome NF-1 Neurofibromatosis 1 NF-2 Neurofibromatosis 2 BRCA 1 Familial breast and ovarian cancer …