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Page 1
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA. Bourassa CV, et al. Among authors: ives ej. Am J Hum Genet. 2012 Sep 7;91(3):548-52. doi: 10.1016/j.ajhg.2012.07.018. Am J Hum Genet. 2012. PMID: 22958904 Free PMC article.
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Doucette L, et al. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107147 Free PMC article.
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. Ahmed ZM, et al. BMC Med Genet. 2004 Sep 24;5:24. doi: 10.1186/1471-2350-5-24. BMC Med Genet. 2004. PMID: 15447792 Free PMC article.
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Goldberg YP, et al. Clin Genet. 2007 Apr;71(4):311-9. doi: 10.1111/j.1399-0004.2007.00790.x. Clin Genet. 2007. PMID: 17470132
60 results