Giguère Y - Search Results

1

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

2

The distribution of major lymphocyte subsets in cord blood is associated with its pH.

Dostál M, Giguère Y, Fait T, Zivný J, Srám RJ. Dostál M, et al. Among authors: giguere y. Clin Biochem. 2001 Mar;34(2):119-24. doi: 10.1016/s0009-9120(01)00185-0. Clin Biochem. 2001. PMID: 11311221

3

The effect of dibenzo[a,1]pyrene and benzo[a]pyrene on human diploid lung fibroblasts: the induction of DNA adducts, expression of p53 and p21(WAF1) proteins and cell cycle distribution.

Binková B, Giguère Y, Rössner P Jr, Dostál M, Srám RJ. Binková B, et al. Among authors: giguere y. Mutat Res. 2000 Nov 20;471(1-2):57-70. doi: 10.1016/s1383-5718(00)00111-x. Mutat Res. 2000. PMID: 11080661

4

The genetics of osteoporosis: 'complexities and difficulties'.

Giguère Y, Rousseau F. Giguère Y, et al. Clin Genet. 2000 Mar;57(3):161-9. doi: 10.1034/j.1399-0004.2000.570301.x. Clin Genet. 2000. PMID: 10782923 Review.

5

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.

Giroux S, Dubé-Linteau A, Cardinal G, Labelle Y, Laflamme N, Giguère Y, Rousseau F. Giroux S, et al. Among authors: giguere y. Clin Genet. 2007 Jun;71(6):569-75. doi: 10.1111/j.1399-0004.2007.00809.x. Clin Genet. 2007. PMID: 17539907

6

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. Yang H, et al. Among authors: giguere y. J Med Genet. 2017 Apr;54(4):241-247. doi: 10.1136/jmedgenet-2016-104289. Epub 2016 Nov 22. J Med Genet. 2017. PMID: 27876694

7

Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.

Giguère Y, Berthier MT. Giguère Y, et al. Adv Exp Med Biol. 2017;959:139-146. doi: 10.1007/978-3-319-55780-9_13. Adv Exp Med Biol. 2017. PMID: 28755192 Review.

8

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.

9

Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.

Girouard J, Giguère Y, Delage R, Rousseau F. Girouard J, et al. Among authors: giguere y. Hum Mol Genet. 2002 Jan 15;11(2):185-9. doi: 10.1093/hmg/11.2.185. Hum Mol Genet. 2002. PMID: 11809727

10

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

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