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465 results
  1. IDH2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/idh2
    ... a mutation in the IDH2 gene. The IDH2 gene mutations involved in CN-AML are called somatic mutations; they are found ... that cause the conditions described above, the IDH2 gene mutations found in CN-AML are gain-of-function mutations. These mutations ...
  2. CYB5R3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cyb5r3
    ... cause autosomal recessive congenital methemoglobinemia types I and II. Most of these CYB5R3 gene mutations cause autosomal recessive congenital methemoglobinemia type I, which ...
  3. DSPP gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dspp
    ... responsible for two forms of this disorder, type II and type III. Mutations in this gene also cause dentin dysplasia type II, a disorder with signs and symptoms very similar ...
  4. CLCN7-Related Osteopetrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1127
    ... Foroud T, Econs MJ. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res. 2003; 18 :1513–8. [ ... PMC PubMed Central citations PubMed Links to PubMed Gene Locus ... of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in ...
  5. Detailed Methods - Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A ... 
    https://www.ncbi.nlm.nih.gov/books/NBK545871
    ... Harvey H, et al. Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study. Fam Cancer. 2010 Dec; ... counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. Fam ... in the IBIS-II bone substudy: an international, double-blind, randomised, placebo- ...
  6. Lynch Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1211
    ... Miyazono K, Yuasa Y. HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet. 1998; 19 :17–8. [ PubMed : 9590282 ] ...
  7. NLM Digital Collections - BIONET annual progress report 
    Publication: Produced: [1986-1987]
    resource.nlm.nih.gov/101584906X17132
    ... Choi, E., and Glimcher, L.H. A single mutation in a Class II Ad gene alters T cell recognition. Proc, Nat'l] Acad. ...
  8. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... ovarian cancer patients with somatic BRCA1 or BRCA2 mutations or with epigenetic silencing of the genes.[ 324 ] Several phase II treatment studies have explored the efficacy of olaparib ...
  9. Polymicrogyria Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1329
    ... L, Delezoide AL, Passos-Bueno MR, Verloes A. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet A. 2007; 143A :1514– ...
  10. Mitochondrial Disorders Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1224
    ... Struyvenberg PA, van de Kamp JJ, Maassen JA. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992; 1 : ...
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