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Results 1 - 8 of 8 for Yao syndrome
  1. NOD2 gene 
    ... the NOD2 gene increase the risk of developing Yao syndrome, a disorder that causes episodes of fever and ... relatively common NOD2 gene variation in people with Yao syndrome replaces the amino acid arginine with the amino ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  2. SURF1 gene 
    ... doi: 10.1002/humu.1112. Citation on PubMed Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol ...
    https://medlineplus.gov/genetics/gene/surf1 - Genetics
  3. SLC52A2 gene 
    ... 14. Citation on PubMed Haack TB, Makowski C, Yao Y, Graf E, ... causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6): ...
    https://medlineplus.gov/genetics/gene/slc52a2 - Genetics
  4. POLR1D gene 
    ... E. Exploring the genetic origins of Treacher Collins syndrome. Clin Genet. 2011 Apr;79(4):330-2. doi: 10.1111/j.1399-0004.2011.01632.x. Epub 2011 Feb 7. No abstract available. Citation on PubMed Yao Y, Yamamoto K, Nishi Y, Nogi Y, Muramatsu ...
    https://medlineplus.gov/genetics/gene/polr1d - Genetics
  5. SLC29A3 gene 
    ... equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome ... Young JD, Yao SY, Baldwin JM, Cass CE, Baldwin SA. The ...
    https://medlineplus.gov/genetics/gene/slc29a3 - Genetics
  6. TMEM127 gene 
    ... 2009 Apr 23. Citation on PubMed Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ... on PubMed or Free article on PubMed Central Yao L, Schiavi F, Cascon A, Qin Y, Inglada- ...
    https://medlineplus.gov/genetics/gene/tmem127 - Genetics
  7. MIR17HG gene 
    ... GENE; MIR17HG NCBI Gene ClinVar de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou ... EA, Amudhavalli SM. Expanding the phenotype of feingold syndrome-2. Am J Med Genet A. 2015 Dec; ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  8. TET2 gene 
    ... Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas ... Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009 Jul;41(7):838-42. ...
    https://medlineplus.gov/genetics/gene/tet2 - Genetics