Levesque S - Search Results

1

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study; Bejerano G, Bernstein JA, Chitayat D. Balasubramanian M, et al. Among authors: levesque s. J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738187 Free article.

2

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.

Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S. Thuriot F, et al. Among authors: levesque s. Genet Med. 2018 Sep;20(9):942-949. doi: 10.1038/gim.2017.239. Epub 2018 Feb 1. Genet Med. 2018. PMID: 29388948 Free article.

3

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.

Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S. Waters PJ, et al. Among authors: levesque s. Mol Genet Metab Rep. 2016 Sep 24;9:19-24. doi: 10.1016/j.ymgmr.2016.09.001. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27699154 Free PMC article.

4

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, Kraus A, Ragge NK, Sossin WS. Zha C, et al. Among authors: levesque s. Hum Mol Genet. 2020 Nov 4;29(18):3054-3063. doi: 10.1093/hmg/ddaa198. Hum Mol Genet. 2020. PMID: 32885237 Free PMC article.

5

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.

Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S. Thuriot F, et al. Among authors: levesque s. Neurol Genet. 2020 Mar 13;6(2):e408. doi: 10.1212/NXG.0000000000000408. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337335 Free PMC article.

6

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.

Fan CW, Castonguay L, Rummell S, Lévesque S, Mitchell JJ, Sillon G. Fan CW, et al. Among authors: levesque s. J Genet Couns. 2018 Apr;27(2):426-438. doi: 10.1007/s10897-017-0133-4. Epub 2017 Aug 9. J Genet Couns. 2018. PMID: 28791521 Clinical Trial.

7

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. Fountain MD, et al. Among authors: levesque s. Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Genet Med. 2017. PMID: 27195816 Free PMC article.

8

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Thuriot F, Gravel E, Hodson K, Ganopolsky J, Rakic B, Waters PJ, Gravel S, Lévesque S. Thuriot F, et al. Among authors: levesque s. J Clin Med. 2021 Aug 28;10(17):3868. doi: 10.3390/jcm10173868. J Clin Med. 2021. PMID: 34501319 Free PMC article.

9

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE. Levesque S, et al. BMC Med Genet. 2012 Aug 15;13:72. doi: 10.1186/1471-2350-13-72. BMC Med Genet. 2012. PMID: 22894767 Free PMC article.

10

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

Dempsey MA, Knight Johnson AE, Swope BS, Moldenhauer JS, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert JR, Lévesque S, Leblanc J, Menzies D, Haverfield E, Das S. Dempsey MA, et al. Among authors: levesque s. Prenat Diagn. 2014 Feb;34(2):163-7. doi: 10.1002/pd.4279. Epub 2013 Dec 9. Prenat Diagn. 2014. PMID: 24218399

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