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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Among authors: maftei c. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Among authors: maftei c. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.
Dermer E, Spahr A, Tran LT, Mirchi A, Pelletier F, Guerrero K, Ahmed S, Brais B, Braverman N, Buhas D, Chandratre S, Chenier S, Chrestian N, Desmeules M, Dilenge ME, Laflamme J, Larbrisseau A, Legault G, Lim KY, Maftei C, Major P, Malvey-Dorn E, Marois P, Mitchell J, Nadeau A, Osterman B, Paradis I, Pohl D, Reggin J, Riou E, Roedde G, Rossignol E, Sébire G, Shevell M, Srour M, Sylvain M, Tarnopolsky M, Venkateswaran S, Sullivan M, Bernard G. Dermer E, et al. Among authors: maftei c. J Child Neurol. 2020 Nov;35(13):901-907. doi: 10.1177/0883073820938645. Epub 2020 Jul 28. J Child Neurol. 2020. PMID: 32720856
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Huguet G, Schramm C, Douard E, Tamer P, Main A, Monin P, England J, Jizi K, Renne T, Poirier M, Nowak S, Martin CO, Younis N, Knoth IS, Jean-Louis M, Saci Z, Auger M, Tihy F, Mathonnet G, Maftei C, Léveillé F, Porteous D, Davies G, Redmond P, Harris SE, Hill WD, Lemyre E, Schumann G, Bourgeron T, Pausova Z, Paus T, Karama S, Lippe S, Deary IJ, Almasy L, Labbe A, Glahn D, Greenwood CMT, Jacquemont S. Huguet G, et al. Among authors: maftei c. Mol Psychiatry. 2021 Jun;26(6):2663-2676. doi: 10.1038/s41380-020-00985-z. Epub 2021 Jan 7. Mol Psychiatry. 2021. PMID: 33414497 Free PMC article.
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS, Goldstein A, Mathieu H, Miranda V, Morali B, Santerre J, Maftei C, Delrue MA, Schmittbuhl M, Vu DD, Moldovan F, Campeau PM. Wredenhagen MS, et al. Among authors: maftei c. PNAS Nexus. 2023 Jun 14;2(6):pgad196. doi: 10.1093/pnasnexus/pgad196. eCollection 2023 Jun. PNAS Nexus. 2023. PMID: 37361548 Free PMC article.
25 results