Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Claude, Marineau"'
Autor:
Jennifer Alleyn, Martin Bilodeau, Jeanne Crépeau, Robert Daudelin, Jeanne Desaulniers, Helen Faradji, Marcel Jean, Pierre Jutras, Jean Laurendeau, Jean-Claude Marineau, Pierre Pageau, Louise Portal, Georges Privet, Roland Smith
Née en 1936, Francine Laurendeau a connu une longue carrière de journaliste, de réalisatrice et d'animatrice à Radio-Canada. Elle a également collaboré aux pages du quotidien Le Devoir en tant que critique de cinéma durant plusieurs années, a
Autor:
Bruno Millet, Amélie Piton, Dan Spiegelman, Marie-Pierre Dubé, Ronald G. Lafrenière, Anjené M. Addington, Ridha Joober, Yan Yang, Adam R. Boyko, Lan Xiong, Fadi F. Hamdan, Philip Awadalla, Marie-Odile Krebs, Guy A. Rouleau, Adam Eyre-Walker, Pierre Drapeau, Eric Fombonne, Carlos Bustamante, Rachel A. Myers, Eric A. Stone, Hussein Daoud, Claude Marineau, Laurent Mottron, J. Lynn E. DeLisi, Julien Tarabeux, Julie Gauthier, Martine Zilversmit, Marie-Hélène Roy-Gagnon, Jon Keebler, Alexander R. Griffing, Judith L. Rapoport, Ferran Casals, Mélanie Côté, Edouard Henrion
Publikováno v:
The American Journal of Human Genetics. 87:316-324
The role of de novo mutations (DNMs) in common diseases remains largely unknown. Nonetheless, the rate of de novo deleterious mutations and the strength of selection against de novo mutations are critical to understanding the genetic architecture of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4cb87b2271a6b629498535f868b832
https://doi.org/10.1016/j.ajhg.2010.07.019
https://doi.org/10.1016/j.ajhg.2010.07.019
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Autor:
Ronald G. Lafrenière, Laurent Mottron, Mélanie Côté, Ousmane Diallo, Liliane Karemera, Edouard Henrion, Yan Yang, Sandra Laurent, Patrick Cossette, Marie-Odile Krebs, Anne Noreau, Claude Marineau, Judith L. Rapoport, Pierre Drapeau, Julien Tarabeux, Laurie Destroismaisons, Jolivet P, Eric Fombonne, Dan Spiegelman, Lynn E. DeLisi, Julie Gauthier, Amélie Piton, A Raymond, Duguay J, Lachapelle K, Kuku F, Ridha Joober, Lan Xiong, Guy A. Rouleau, Anjené M. Addington, Claudia Gaspar, Fadi F. Hamdan, Jean-Baptiste Rivière, Nathalie Champagne, Pascale Thibodeau
Publikováno v:
Molecular Psychiatry. 16:867-880
Autism spectrum disorder (ASD) and schizophrenia (SCZ) are two common neurodevelopmental syndromes that result from the combined effects of environmental and genetic factors. We set out to test the hypothesis that rare variants in many different gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac6b546f50c7bedaa1f7604bf5b34850
https://doi.org/10.1038/mp.2010.54
https://doi.org/10.1038/mp.2010.54
Autor:
Julie, Gauthier, Nathalie, Champagne, Ronald G, Lafrenière, Lan, Xiong, Dan, Spiegelman, Edna, Brustein, Mathieu, Lapointe, Huashan, Peng, Mélanie, Côté, Anne, Noreau, Fadi F, Hamdan, Anjené M, Addington, Judith L, Rapoport, Lynn E, Delisi, Marie-Odile, Krebs, Ridha, Joober, Ferid, Fathalli, Fayçal, Mouaffak, Ali P, Haghighi, Christian, Néri, Marie-Pierre, Dubé, Mark E, Samuels, Claude, Marineau, Eric A, Stone, Philip, Awadalla, Philip A, Barker, Salvatore, Carbonetto, Pierre, Drapeau, Guy A, Rouleau, David, Gourion
Publikováno v:
Proceedings of the National Academy of Sciences. 107:7863-7868
Schizophrenia likely results from poorly understood genetic and environmental factors. We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents. Two de novo mutations (R1117X and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c67bae54951ef1238d68881cd4e0b57
https://doi.org/10.1073/pnas.0906232107
https://doi.org/10.1073/pnas.0906232107
Autor:
Laurent Mottron, Jean-Claude Lacaille, Guy A. Rouleau, Mélanie Côté, Edouard Henrion, Anne Noreau, Sylvia Dobrzeniecka, Dan Spiegelman, Anne Lortie, Eric Fombonne, Pierre Drapeau, Fadi F. Hamdan, Julie Gauthier, Amélie Piton, Stéphanie Pellerin, Claude Marineau, Jacques L. Michaud, François Dubeau, Ronald G. Lafrenière
Publikováno v:
Annals of Neurology. 65:748-753
We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c64f4278db81535818f699a048cb84a
https://doi.org/10.1002/ana.21625
https://doi.org/10.1002/ana.21625
Autor:
Fadi F, Hamdan, Julie, Gauthier, Dan, Spiegelman, Anne, Noreau, Yan, Yang, Stéphanie, Pellerin, Sylvia, Dobrzeniecka, Mélanie, Côté, Elizabeth, Perreau-Linck, Elizabeth, Perreault-Linck, Lionel, Carmant, Guy, D'Anjou, Eric, Fombonne, Anjene M, Addington, Judith L, Rapoport, Lynn E, Delisi, Marie-Odile, Krebs, Faycal, Mouaffak, Ridha, Joober, Laurent, Mottron, Pierre, Drapeau, Claude, Marineau, Ronald G, Lafrenière, Jean Claude, Lacaille, Guy A, Rouleau, Jacques L, Michaud
Publikováno v:
New England Journal of Medicine. 360:599-605
Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf469b63ad616f66be1351ab00c4f7eb
https://doi.org/10.1056/nejmoa0805392
https://doi.org/10.1056/nejmoa0805392
Publikováno v:
Human Molecular Genetics. 3:185-190
Neurofibromatosis type 2 (NF2) is a complex nervous system disorder characterized by the development of schwannomas (especially vestibular), meningiomas, ependymomas and juvenile lens opacities. Mutation in the NF2 gene, which encodes for the schwann
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d82174d4258625e56fd8ef2808ba4c
https://doi.org/10.1093/hmg/3.1.185
https://doi.org/10.1093/hmg/3.1.185
Autor:
Jacques L. Michaud, Ronald G. Lafrenière, Jae-Ran Lee, A-Reum Park, Michael Shevell, Hideyuki Tomitori, Yuhki Yoshizawa, Guy A. Rouleau, Michel Vanasse, Sylvia Dobrzeniecka, Jean-Claude Lacaille, Amélie Nadeau, Eunjoon Kim, Richard L. Huganir, Dan Spiegelman, Amélie Piton, Claude Marineau, Fadi F. Hamdan, Hussein Daoud, Guy D'Anjou, Pierre Drapeau, Bruno Maranda, Grant A. Mitchell, Kazuei Igarashi, Ousmane Diallo, Edouard Henrion, Masoud Shekarabi, Yoichi Araki, Christine Massicotte, Myriam Srour, Kyohei Higashi, Da Ting Lin, Julie Gauthier
Publikováno v:
The American Journal of Human Genetics. 88(4)
Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In order to investigate this possibility, we sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04d262796a5c701cad0681919c2a3fa
Autor:
Eric Fombonne, Julie Gauthier, Guy A. Rouleau, Jacques L. Michaud, Laurent Mottron, Claude Marineau, Jean-Claude Lacaille, Ronald G. Lafrenière, Stéphanie Pellerin, Pierre Drapeau, Sylvia Dobrzeniecka, Fadi F. Hamdan
Publikováno v:
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce617f21601576a1406c823e326c363d
https://pubmed.ncbi.nlm.nih.gov/19433673
https://pubmed.ncbi.nlm.nih.gov/19433673
Autor:
Marie-Pierre Dubé, Jacques L. Michaud, S D team, Patrick Cossette, Pierre Drapeau, Amélie Piton, Claude Marineau, Swaroop Aradhya, Ronald G. Lafrenière, Philip A. Barker, Huashan Peng, Nathalie Champagne, Fadi F. Hamdan, Laurent Mottron, Ridha Joober, Guy A. Rouleau, Julie Gauthier, Eric Fombonne, Pejmun Haghighi, Salvatore Carbonetto
Publikováno v:
Human molecular genetics. 17(24)
In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa9a5a55fefdfda923c655904944992b
https://pubmed.ncbi.nlm.nih.gov/18801879
https://pubmed.ncbi.nlm.nih.gov/18801879