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  1. IDH1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/idh1
    ... not have these abnormalities; these are classified as CN-AML. IDH1 gene mutations occur in about 16 percent of people with CN-AML. The IDH1 gene mutations involved in CN-AML are somatic mutations, found ...
  2. FLT3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/flt3
    ... not have these abnormalities; these are classified as CN-AML. The FLT3 gene mutations involved in CN-AML are called somatic mutations; they are found ...
  3. 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 ...
  4. CEBPA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cebpa
    ... not have these abnormalities; these are classified as CN-AML. Mutations in this gene are found in approximately 18 percent of individuals with CN-AML. When associated with CEBPA gene mutations, this condition can be inherited, in which case ...
  5. NPM1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/npm1
    ... a mutation in the NPM1 gene. The NPM1 gene mutations involved in CN-AML are called somatic mutations; they are found only in cells that become cancerous and are not inherited. These mutations occur in a region of the gene designated exon 12. They change the blueprint used ...
  6. DNMT3A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dnmt3a
    ... a mutation in the DNMT3A gene. The DNMT3A gene mutations involved in CN-AML are called somatic mutations; they are typically ...
  7. Cytogenetically normal acute myeloid leukemia: MedlinePlus Genetics 
    https://medlineplus.gov/...genetically-normal-acute-myeloid-leukemia
    ... proteins produced from two other genes involved in CN-AML, IDH1 and IDH2 , are not normally involved in proliferation, differentiation, or survival of cells, mutations in these genes lead to the production of proteins with a ...
  8. 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– ...
  9. MELAS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1233
    ... 2 :125–35. [ PubMed : 1422200 ] Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int. 2001; 59 :1236–43. [ PubMed : 11260383 ] ...
  10. Familial acute myeloid leukemia with mutated CEBPA: MedlinePlus Genetics 
    https://medlineplus.gov/...acute-myeloid-leukemia-with-mutated-cebpa
    ... MS, Speed TP, Vincent PC, Young G, Hahn CN, Escher R, Scott HS. Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes. Br J Haematol. 2010 Aug;150(3):382- ...
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