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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: maranda b. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. Perrault I, et al. Among authors: maranda b. Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814191 Free PMC article.
Familial deletion 18p syndrome: case report.
Maranda B, Lemieux N, Lemyre E. Maranda B, et al. BMC Med Genet. 2006 Jul 14;7:60. doi: 10.1186/1471-2350-7-60. BMC Med Genet. 2006. PMID: 16842614 Free PMC article.
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
Castellsagué E, Liu J, Volenik A, Giroux S, Gagné R, Maranda B, Roussel-Jobin A, Latreille J, Laframboise R, Palma L, Kasprzak L, Marcus VA, Breguet M, Nolet S, El-Haffaf Z, Australie K, Gologan A, Aleynikova O, Oros-Klein K, Greenwood C, Mes-Masson AM, Provencher D, Tischkowitz M, Chong G, Rousseau F, Foulkes WD. Castellsagué E, et al. Among authors: maranda b. Clin Genet. 2015 Jun;87(6):536-42. doi: 10.1111/cge.12526. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25318681
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: maranda b. 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
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B. Samuels ME, et al. Among authors: maranda b. J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19. J Med Genet. 2013. PMID: 23423984 Free PMC article.
77 results