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Results 1 - 10 of 15 for robert syndrome 14
  1. ESCO2 gene 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  2. PRKAG2 gene 
    ... Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344(24):1823-31. doi: 10.1056/NEJM200106143442403. ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  3. FKBP14 gene 
    ... for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). This protein is found ... they need to function properly. FKBP prolyl isomerase 14 is thought to assist with protein folding, particularly ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  4. SCN9A gene 
    ... congenital inability to experience pain. Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413. ... sets the gain on pain. Nature. 2006 Dec 14;444(7121):831-2. doi: 10.1038/444831a. ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  5. KRAS gene 
    ... in lung cancer. Clin Lung Cancer. 2013 May;14(3):205-14. doi: 10.1016/j.cllc.2012.09.007. ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  6. BRAF gene 
    ... Feb;18(1):1-9. doi: 10.2350/14-10-1566-OA.1. Epub 2014 Dec 9. ... 10.1038/jid.2013.270. Epub 2013 Jun 14. No abstract available. Citation on PubMed
    https://medlineplus.gov/genetics/gene/braf - Genetics
  7. CAV3 gene 
    ... causing familial isolated hyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd. ... associated with long-QT syndrome. Circulation. 2006 Nov 14;114(20):2104-12. doi: 10.1161/CIRCULATIONAHA. ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  8. TGFBR2 gene 
    ... thoracic aortic aneurysms. Curr Atheroscler Rep. 2012 Jun;14(3):219-26. doi: 10.1007/s11883-012- ... Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco ... HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  9. TGFBR1 gene 
    ... 10.3109/10799893.2012.664553. Epub 2012 Mar 14. Citation on PubMed Goudie DR, D'Alessandro M, ... Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco ... HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
  10. SMARCA4 gene 
    ... Feb;18(1):49-58. doi: 10.2350/14-07-1531-MISC.1. Epub 2014 Dec 10. ... of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Citation on PubMed Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
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