Levesque S - Search Results

1

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.

2

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL. Srour M, et al. Among authors: levesque s. Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9. Hum Mutat. 2016. PMID: 27120018

3

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.

4

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.

5

Novel founder mutation in French-Canadian families with Naxos disease.

Marino TC, Maranda B, Leblanc J, Pratte A, Barabas M, Dupéré A, Lévesque S. Marino TC, et al. Among authors: levesque s. Clin Genet. 2017 Oct;92(4):451-453. doi: 10.1111/cge.12971. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28098346 No abstract available.

6

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.

7

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N. Cheung A, et al. Among authors: levesque s. Neurogenetics. 2022 Apr;23(2):115-127. doi: 10.1007/s10048-022-00684-7. Epub 2022 Feb 2. Neurogenetics. 2022. PMID: 35106698

8

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

9

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.

10

"Acquired" Brugada syndrome in a cardiac allograft.

Power A, Lynch Á, Zahavich L, Lévesque SA, Stephenson EA, Jean-St-Michel E, Dipchand AI, Jeewa A. Power A, et al. Pediatr Transplant. 2022 Aug;26(5):e14276. doi: 10.1111/petr.14276. Epub 2022 Mar 27. Pediatr Transplant. 2022. PMID: 35340105

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