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Page 1
Rare copy number variants contribute to congenital left-sided heart disease.
Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G. Hitz MP, et al. Among authors: thibeault m. PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. PLoS Genet. 2012. PMID: 22969434 Free PMC article.
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
Preuss C, Capredon M, Wünnemann F, Chetaille P, Prince A, Godard B, Leclerc S, Sobreira N, Ling H, Awadalla P, Thibeault M, Khairy P; MIBAVA Leducq consortium; Samuels ME, Andelfinger G. Preuss C, et al. Among authors: thibeault m. PLoS Genet. 2016 Oct 19;12(10):e1006335. doi: 10.1371/journal.pgen.1006335. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27760138 Free PMC article.
Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec.
Dubé MP, Bigras JL, Thibeault M, Bureau N, Chetaille P, Richter A, Mercier J, Bellavance M, Rohlicek C, Rozen R, Nemer M, Khairy P, Gendron R, Andelfinger G. Dubé MP, et al. Among authors: thibeault m. Cardiol Young. 2011 Dec;21(6):654-64. doi: 10.1017/S1047951111000813. Epub 2011 Jul 4. Cardiol Young. 2011. PMID: 21729494
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M; MIBAVA Leducq Consortium principal investigators; Elpeleg O, Hitz MP, Andelfinger G. Wünnemann F, et al. Among authors: thibeault m. Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2. Epub 2019 Dec 16. Nat Genet. 2020. PMID: 31844321 Free PMC article.
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C. Wünnemann F, et al. Among authors: thibeault m. Can J Cardiol. 2016 Jan;32(1):135.e1-7. doi: 10.1016/j.cjca.2015.04.004. Epub 2015 Apr 13. Can J Cardiol. 2016. PMID: 26148450
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium; Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Chetaille P, et al. Among authors: thibeault m. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282101
Drug disposition in patients with HBsAg-positive chronic liver disease.
Villeneuve JP, Thibeault MJ, Ampelas M, Fortunet-Fouin H, LaMarre L, Côté J, Pomier-Layrargues G, Huet PM. Villeneuve JP, et al. Among authors: thibeault mj. Dig Dis Sci. 1987 Jul;32(7):710-4. doi: 10.1007/BF01296136. Dig Dis Sci. 1987. PMID: 3595383
Refractive Error Change and Overminus Lens Therapy for Childhood Intermittent Exotropia.
Writing Committee for the Pediatric Eye Disease Investigator Group; Pediatric Eye Disease Investigator Group; Chen AM, Erzurum SA, Chandler DL, Hercinovic A, Wu R, Vricella M, Waters AL, Ticho BH, Erickson JW, Han S, McDowell PS, Li Z, Kraker RT, Holmes JM, Cotter SA. Writing Committee for the Pediatric Eye Disease Investigator Group, et al. JAMA Ophthalmol. 2024 May 1;142(5):417-428. doi: 10.1001/jamaophthalmol.2024.0276. JAMA Ophthalmol. 2024. PMID: 38536764 Clinical Trial.
56 results