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257 results

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Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. D'Amours G, et al. Among authors: michaud jl. Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7. Clin Genet. 2018. PMID: 29700810
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium; Maranda B, Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Among authors: michaud jl. Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22425360 Free PMC article.
Fat chance: genetic syndromes with obesity.
Delrue MA, Michaud JL. Delrue MA, et al. Among authors: michaud jl. Clin Genet. 2004 Aug;66(2):83-93. doi: 10.1111/j.0009-9163.2004.00300.x. Clin Genet. 2004. PMID: 15253756 Review.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: michaud jl. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC. Amrom D, et al. Among authors: michaud jl. Clin Genet. 2014 Feb;85(2):178-83. doi: 10.1111/cge.12141. Epub 2013 Apr 24. Clin Genet. 2014. PMID: 23495813
New autosomal recessive form of amelia.
Michaud J, Filiatrault D, Dallaire L, Lambert M. Michaud J, et al. Am J Med Genet. 1995 Mar 27;56(2):164-7. doi: 10.1002/ajmg.1320560210. Am J Med Genet. 1995. PMID: 7625439 Review.
257 results