Cyr D - Search Results

1

Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9.

Agudelo D, Carter S, Velimirovic M, Duringer A, Rivest JF, Levesque S, Loehr J, Mouchiroud M, Cyr D, Waters PJ, Laplante M, Moineau S, Goulet A, Doyon Y. Agudelo D, et al. Among authors: cyr d. Genome Res. 2020 Jan;30(1):107-117. doi: 10.1101/gr.255414.119. Epub 2020 Jan 3. Genome Res. 2020. PMID: 31900288 Free PMC article.

2

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B. Waters PJ, et al. Among authors: cyr d. Mol Genet Genomic Med. 2019 Dec;7(12):e1000. doi: 10.1002/mgg3.1000. Epub 2019 Oct 26. Mol Genet Genomic Med. 2019. PMID: 31654490 Free PMC article.

3

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: cyr d. 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.

4

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: cyr d. 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

5

Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.

Zhao C, Wang Y, Yang H, Wang S, Tang MC, Cyr D, Parente F, Allard P, Waters P, Furtos A, Yang G, Mitchell GA. Zhao C, et al. Among authors: cyr d. Mol Genet Metab. 2022 Jan;135(1):47-55. doi: 10.1016/j.ymgme.2021.11.011. Epub 2021 Nov 27. Mol Genet Metab. 2022. PMID: 34896004

6

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome.

Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ; LSFC Consortium; Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C. Thompson Legault J, et al. Among authors: cyr d. Cell Rep. 2015 Nov 3;13(5):981-9. doi: 10.1016/j.celrep.2015.09.054. Epub 2015 Oct 22. Cell Rep. 2015. PMID: 26565911 Free PMC article.

7

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG, Germain DP, Laframboise R, Melançon SB, Stockley T, Clarke JT, Drouin R. Auray-Blais C, et al. Among authors: cyr d. Mol Genet Metab. 2008 Mar;93(3):331-40. doi: 10.1016/j.ymgme.2007.10.001. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18023222

8

Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.

Qureshi IA, Leblanc D, Cyr D, Giguère R, Mitchell G. Qureshi IA, et al. Among authors: cyr d. Biochem Biophys Res Commun. 1993 Mar 15;191(2):744-9. doi: 10.1006/bbrc.1993.1280. Biochem Biophys Res Commun. 1993. PMID: 8461026

9

Determination of urinary acylcarnitines: a complementary aid for the high-risk screening of several organic acidurias using a simple and reliable GC/MS-based method.

Cyr D, Giguère R, Giguère Y, Lemieux B. Cyr D, et al. Clin Biochem. 2000 Mar;33(2):151-5. doi: 10.1016/s0009-9120(00)00050-3. Clin Biochem. 2000. PMID: 10751595 No abstract available.

10

A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I.

Cyr D, Giguère R, Villain G, Lemieux B, Drouin R. Cyr D, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 17;832(1):24-9. doi: 10.1016/j.jchromb.2005.12.007. Epub 2006 Jan 18. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16414314

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