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Results 1 - 10 of 10 for "Erythrocytosis," "familial," 7
  1. Familial erythrocytosis 
    ... 68. Citation on PubMed Percy MJ, Lee FS. Familial erythrocytosis: molecular links to red blood cell control. Haematologica. 2008 Jul;93(7):963-7. doi: 10.3324/haematol.13250. No ...
    https://medlineplus.gov/genetics/condition/familial-erythrocytosis - Genetics
  2. EPAS1 gene 
    ... S, Della Ragione F. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7. No abstract available. Citation on PubMed Simonson TS, ...
    https://medlineplus.gov/genetics/gene/epas1 - Genetics
  3. EPOR gene 
    ... la Chapelle A. Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood. 1999 Oct 1;94(7):2530-2. Citation on PubMed Watowich SS. The ...
    https://medlineplus.gov/genetics/gene/epor - Genetics
  4. EGLN1 gene 
    ... the EGLN1 gene have been found to cause familial erythrocytosis, an inherited condition characterized by an increased number ... an elevated risk of abnormal blood clots. When familial erythrocytosis results from EGLN1 gene mutations, it is often ...
    https://medlineplus.gov/genetics/gene/egln1 - Genetics
  5. Polycythemia vera 
    ... present only in certain cells.In rare instances, polycythemia vera has been found to run in families. In some of these families, the risk of developing polycythemia vera appears to have an autosomal dominant pattern ...
    https://medlineplus.gov/genetics/condition/polycythemia-vera - Genetics
  6. Hypermanganesemia with dystonia 
    ... Testing Registry: Hypermanganesemia with dystonia 2 ... Mukhopadhyay S. Familial manganese-induced neurotoxicity due to mutations in SLC30A10 ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  7. TET2 gene 
    ... neoplasms. Blood. 2010 Mar 11;115(10):2003-7. doi: 10.1182/blood-2009-09-245381. Epub ... vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May; ...
    https://medlineplus.gov/genetics/gene/tet2 - Genetics
  8. Primary myelofibrosis 
    ... with myeloid metaplasia. PLoS Med. 2006 Jul;3(7):e270. doi: ... Myeloproliferative Disorders. Analysis of the ten-eleven translocation ...
    https://medlineplus.gov/genetics/condition/primary-myelofibrosis - Genetics
  9. Chromosome 20 
    ... disorders of the blood and bone marrow, including polycythemia vera (which causes an overproduction of red blood ... S, Dignan P, Soukup S. Partial trisomy 20p: familial occurrence. Am J Med Genet. 2000 Dec 11; ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
  10. Essential thrombocythemia 
    ... RL. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May; ...
    https://medlineplus.gov/genetics/condition/essential-thrombocythemia - Genetics