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High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
Chong G, Jarry J, Marcus V, Thiffault I, Winocour S, Monczak Y, Drouin R, Latreille J, Australie K, Bapat B, Gordon PH, Giguère Y, Gologan A, Galiatsatos P, Jass JR, Wong N, Zaor S, Palma L, Kasprzak L, Tischkowitz M, Foulkes WD. Chong G, et al. Among authors: giguere y. Hum Mutat. 2009 Aug;30(8):E797-812. doi: 10.1002/humu.21056. Hum Mutat. 2009. PMID: 19459153
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Among authors: giguere y. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.
Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. Yang H, et al. Among authors: giguere y. Mol Genet Metab Rep. 2017 Dec 27;14:55-58. doi: 10.1016/j.ymgmr.2017.12.002. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29326876 Free PMC article.
Thyroid function from birth to adolescence in Prader-Willi syndrome.
Sharkia M, Michaud S, Berthier MT, Giguère Y, Stewart L, Deladoëy J, Deal C, Van Vliet G, Chanoine JP. Sharkia M, et al. Among authors: giguere y. J Pediatr. 2013 Sep;163(3):800-5. doi: 10.1016/j.jpeds.2013.03.058. Epub 2013 Apr 25. J Pediatr. 2013. PMID: 23623517
128 results