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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 adjunct investigator in NHGRI's Genetic Disease Research Branch.
… 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 …
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 … …
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 …
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 … fs. physical mapping of a translocation breakpoint in neurofibromatosis. science, 244, 1085-1087. 1989. [ pubmed ] … brereton a, nicholson j, mitchell al, collins fs. type 1 neurofibromatosis gene: identification of a large transcript …
About Genomics
Key moments and press releases from the history of the Human Genome Project.
… responsible for cystic fibrosis, huntingdon's disease, neurofibromatosis and other genetic disorders. more francis …
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 …
File
… Familial adenomatous polyposis coli Gardener syndrome NF-1 Neurofibromatosis 1 NF-2 Neurofibromatosis 2 BRCA 1 Familial breast and ovarian cancer …