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Results 11 - 20 of 49 for Marshall syndrome
  1. Simpson-Golabi-Behmel syndrome 
    ... Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A. 2016 ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  2. ALMS1 gene 
    ... ASSOCIATED PROTEIN; ALMS1 NCBI Gene ClinVar ... ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002 May;31(1):74-8. ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
  3. WNT5A gene 
    ... PubMed Central Roifman M, Marcelis CL, Paton T, Marshall C, ... Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/gene/wnt5a - Genetics
  4. ANKRD11 gene 
    ... AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr;18(4): ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
  5. Robinow syndrome 
    ... on PubMed Roifman M, Marcelis CL, Paton T, Marshall C, Silver ... Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  6. Wolfram syndrome 
    ... on PubMed or Free article on PubMed Central Marshall BA, ... characteristics of early Wolfram syndrome. Orphanet J Rare Dis. 2013 Apr 27;8: ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  7. 3MC syndrome 
    ... Furze CM, Gingras AR, Yoshizaki T, Ohtani K, Marshall JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  8. PACS1 syndrome 
    ... Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  9. PACS1 gene 
    ... Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/pacs1 - Genetics
  10. COLEC11 gene 
    ... Furze CM, Gingras AR, Yoshizaki T, Ohtani K, Marshall JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: ...
    https://medlineplus.gov/genetics/gene/colec11 - Genetics
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