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Results 1 - 10 of 21 for Yao syndrome
  1. Yao syndrome 
    Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many ...
    https://medlineplus.gov/genetics/condition/yao-syndrome - Genetics
  2. 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
  3. 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
  4. McCune-Albright syndrome 
    ... on PubMed or Free article on PubMed Central Yao Y, Liu Y, Wang L, Deng K, Yang H, Lu L, Feng F, Xing B, You H, Jin Z, Wang R, Pan H, Chen S, Zhu H. Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome. Eur J Endocrinol. 2017 Mar;176(3):295- ...
    https://medlineplus.gov/genetics/condition/mccune-albright-syndrome - Genetics
  5. Riboflavin transporter deficiency neuronopathy 
    ... article on PubMed Central Haack TB, Makowski C, Yao Y, Graf ... causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6): ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  6. 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
  7. 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
  8. Feingold syndrome 
    ... Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1;122A(4):294-300. doi: 10.1002/ajmg.a.20471. Citation on PubMed de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou ...
    https://medlineplus.gov/genetics/condition/feingold-syndrome - Genetics
  9. 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
  10. Legius syndrome 
    ... on PubMed Central Legius E, Stevenson D. Legius Syndrome. 2010 ... Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
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