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Results 1 - 10 of 12 for Noonan syndrome 10
  1. SOS1 gene 
    ... Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Citation on ... function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat ... 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Erratum In: ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  2. KRAS gene 
    ... Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 Feb 12. Erratum In: ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  3. RAF1 gene 
    ... Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Citation on ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  4. PTPN11 gene 
    ... mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. Int J Cardiol. 2015;186:13-5. doi: 10.1016/j.ijcard.2015.03.260. Epub 2015 ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical ... 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  5. NRAS gene 
    ... M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6. Citation ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical ... 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. ...
    https://medlineplus.gov/genetics/gene/nras - Genetics
  6. RIT1 gene 
    ... Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. ...
    https://medlineplus.gov/genetics/gene/rit1 - Genetics
  7. BRAF gene 
    ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  8. MAP2K1 gene 
    ... novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25. ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  9. LRP2 gene 
    ... Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh ... 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 Jul 15. Citation on ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  10. MAP2K2 gene 
    ... Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. ...
    https://medlineplus.gov/genetics/gene/map2k2 - Genetics
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