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Results 1 - 10 of 23 for Grant syndrome
  1. TUBB3 gene 
    ... SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in ... on PubMed or Free article on PubMed Central Grant PE, Im K, ... Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22;29(8):3561- ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  2. Apert syndrome 
    ... PubMed David DJ, Anderson P, Flapper W, Syme-Grant J, Santoreneos S, Moore M. Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  3. Polymicrogyria 
    ... Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25;62( ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  4. Blepharocheilodontic syndrome 
    ... 1. Citation on PubMed Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. Am J Med Genet A. 2010 Feb;152A( ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  5. FGFR1 gene 
    ... Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  6. FTL gene 
    ... Craig JE, Clark JB, McLeod JL, Kirkland MA, Grant G, Elder JE, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  7. WT1 gene 
    ... M, Kelehan P, O'neill D, Vadeyar S, Grant J, Ahmed SF, Tolmie J, McCann E, Lam W, Smith S, Fitzpatrick D, Hastie ND, Reardon W. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  8. Chromosome 20 
    ... Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, ... in ring chromosome 20 syndrome. Acta Neurol Scand. 2005 Mar;111(3):205- ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
  9. 16p11.2 deletion syndrome 
    ... P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon ... A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
  10. Stevens-Johnson syndrome/toxic epidermal necrolysis 
    ... 0b013e3283630cc2. Citation on PubMed Mockenhaupt M. ... Ostrov DA, Grant BJ, Pompeu YA, Sidney J, Harndahl M, Southwood ...
    https://medlineplus.gov/...hnson-syndrome-toxic-epidermal-necrolysis - Genetics
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