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Results 1 - 10 of 21 for "Erythrocytosis," "familial," 3
  1. ... Hereditary erythrocytosis Primary familial polycythemia Genetic Testing Registry: Erythrocytosis, familial, 3 Genetic Testing Registry: Erythrocytosis, familial, 4 Genetic Testing ...
  2. ... Familydoctor.org [Internet]. Leawood (KS): American Academy of Family Physicians; c2021. Polycythemia Vera; [updated 2018 Oct 29; cited 2021 Jan 21]; [about 3 screens]. Available from: https://familydoctor.org/condition/polycythemia- ...
  3. ... In: Am J Hum Genet. 2004 Mar;74(3):598. Citation on PubMed or Free article on PubMed Central Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84( ...
  4. ... TR, Maxwell PH, McMullin MF, Lee FS. A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. doi: 10.1073/pnas.0508423103. Epub ...
  5. ... S, Della Ragione F. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; ... Epub 2011 Nov 9. Citation on PubMed van ...
  6. ... A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene. Haematologica. ... la Chapelle A. Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ...
  7. ... 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 ...
  8. ... so excess amounts of this element may underlie polycythemia. More About This Health Condition DKFZp547M236 HMDPC solute carrier family 30, member 10 zinc transporter 10 ZnT-10 ...
  9. ... in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012. ...
  10. ... 20 syndrome. Acta Neurol Scand. 2005 Mar;111(3):205-8. doi: 10.1111/j.1600-0404.2005.00298.x. Citation on PubMed Oppenheimer S, Dignan P, Soukup S. Partial trisomy 20p: familial occurrence. Am J Med Genet. 2000 Dec 11; ...
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