Lemyre E - Search Results

1

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.

Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ. Chénier S, et al. Among authors: lemyre e. J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22. J Neurodev Disord. 2014. PMID: 24834135 Free PMC article.

2

De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.

Tihy F, Lemyre E, Lemieux N, Dallaire L. Tihy F, et al. Among authors: lemyre e. Am J Med Genet. 1999 Dec 3;87(4):302-5. Am J Med Genet. 1999. PMID: 10588834 Review.

3

Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p.

Tihy F, Lemyre E, Dallaire L, Lemieux N. Tihy F, et al. Among authors: lemyre e. Am J Med Genet. 2000 Apr 24;91(5):383-6. doi: 10.1002/(sici)1096-8628(20000424)91:5<383::aid-ajmg12>3.0.co;2-g. Am J Med Genet. 2000. PMID: 10767003

4

Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities.

Tihy F, Lemieux N, Lemyre E. Tihy F, et al. Among authors: lemyre e. Am J Med Genet A. 2005 Jun 15;135(3):317-9. doi: 10.1002/ajmg.a.30697. Am J Med Genet A. 2005. PMID: 15887259

5

Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations.

Gignac J, Danis K, Tihy F, Lemyre E. Gignac J, et al. Among authors: lemyre e. Am J Med Genet A. 2006 Dec 15;140(24):2768-75. doi: 10.1002/ajmg.a.31472. Am J Med Genet A. 2006. PMID: 17103433

6

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre E. D'Amours G, et al. Among authors: lemyre e. Clin Genet. 2012 Feb;81(2):128-41. doi: 10.1111/j.1399-0004.2011.01687.x. Epub 2011 May 16. Clin Genet. 2012. PMID: 21496010

7

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: lemyre e. 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.

8

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium; Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Among authors: lemyre e. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25. J Med Genet. 2012. PMID: 23012439

9

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R. Baskin B, et al. Among authors: lemyre e. Hum Genet. 2014 Mar;133(3):321-30. doi: 10.1007/s00439-013-1379-z. Epub 2013 Oct 24. Hum Genet. 2014. PMID: 24154661

10

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.

D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E. D'Amours G, et al. Among authors: lemyre e. BMC Med Genomics. 2014 Dec 24;7:70. doi: 10.1186/s12920-014-0070-0. BMC Med Genomics. 2014. PMID: 25539807 Free PMC article.

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