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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Among authors: goodship j. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA. Polymeropoulos MH, et al. Among authors: goodship j. Genomics. 1996 Jul 1;35(1):1-5. doi: 10.1006/geno.1996.0315. Genomics. 1996. PMID: 8661097 Free article.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. Among authors: goodship ja. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.
DiGeorge syndrome: part of CATCH 22.
Wilson DI, Burn J, Scambler P, Goodship J. Wilson DI, et al. Among authors: goodship j. J Med Genet. 1993 Oct;30(10):852-6. doi: 10.1136/jmg.30.10.852. J Med Genet. 1993. PMID: 8230162 Free PMC article.
183 results