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Your search keyword '"Dubé, Marie‐Pierre"' showing total 9 results
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9 results on '"Dubé, Marie‐Pierre"'

2. Methylomic changes in individuals with psychosis, prenatally exposed to endocrine disrupting compounds: Lessons from diethylstilbestrol

Author

Rivollier, Fabrice, primary, Chaumette, Boris, additional, Bendjemaa, Narjes, additional, Chayet, Mélanie, additional, Millet, Bruno, additional, Jaafari, Nematollah, additional, Barhdadi, Amina, additional, Lemieux Perreault, Louis-Philippe, additional, Provost, Sylvie, additional, Dubé, Marie-Pierre, additional, Gaillard, Raphaël, additional, Krebs, Marie-Odile, additional, and Kebir, Oussama, additional

Published
2017
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3. Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

Author

Girard, Simon L., primary, Bourassa, Cynthia V., additional, Lemieux Perreault, Louis-Philippe, additional, Legault, Marc-André, additional, Barhdadi, Amina, additional, Ambalavanan, Amirthagowri, additional, Brendgen, Mara, additional, Vitaro, Frank, additional, Noreau, Anne, additional, Dionne, Ginette, additional, Tremblay, Richard E., additional, Dion, Patrick A., additional, Boivin, Michel, additional, Dubé, Marie-Pierre, additional, and Rouleau, Guy A., additional

Published
2016
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4. Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Author

Girard, Simon L., primary, Dion, Patrick A., additional, Bourassa, Cynthia V., additional, Geoffroy, Steve, additional, Lachance-Touchette, Pamela, additional, Barhdadi, Amina, additional, Langlois, Mathieu, additional, Joober, Ridha, additional, Krebs, Marie-Odile, additional, Dubé, Marie-Pierre, additional, and Rouleau, Guy A., additional

Published
2015
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6. Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

Author

Tietjen, Ian, primary, Hovingh, G. Kees, additional, Singaraja, Roshni R., additional, Radomski, Chris, additional, Barhdadi, Amina, additional, McEwen, Jason, additional, Chan, Elden, additional, Mattice, Maryanne, additional, Legendre, Annick, additional, Franchini, Patrick L., additional, Dubé, Marie-Pierre, additional, Kastelein, John J. P., additional, and Hayden, Michael R., additional

Published
2012
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8. Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Author

Orr, Andrew, primary, Dubé, Marie-Pierre, additional, Marcadier, Julien, additional, Jiang, Haiyan, additional, Federico, Antonio, additional, George, Stanley, additional, Seamone, Christopher, additional, Andrews, David, additional, Dubord, Paul, additional, Holland, Simon, additional, Provost, Sylvie, additional, Mongrain, Vanessa, additional, Evans, Susan, additional, Higgins, Brent, additional, Bowman, Sharen, additional, Guernsey, Duane, additional, and Samuels, Mark, additional

Published
2007
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9. Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data.

Author

Haiyan Jiang, Orr, Andrew, Guernsey, Duane L., Robitaille, Johane, Asselin, Géraldine, Samuels, Mark E., and Dubé, Marie-Pierre

Subjects
GENE mapping, GENETIC disorders, GENES, CHROMOSOMES, PATHOGENIC microorganisms, DYSTROPHY
Abstract

Background: In families segregating a monogenic genetic disorder with a single disease gene introduction, patients share a mutation-carrying chromosomal interval with identity-by-descent (IBD). Such a shared chromosomal interval or haplotype, surrounding the actual pathogenic mutation, is typically detected and defined by multipoint linkage and phased haplotype analysis using microsatellite or SNP genotype data. High-density SNP genotype data presents a computational challenge for conventional genetic analyses. A novel non-parametric method termed Homozygosity Haplotype (HH) was recently proposed for the genome-wide search of the autosomal segments shared among patients using high density SNP genotype data. Methodology/Principal Findings: The applicability and the effectiveness of HH in identifying the potential linkage of disease causative gene with high-density SNP genotype data were studied with a series of monogenic disorders ascertained in eastern Canadian populations. The HH approach was validated using the genotypes of patients from a family affected with a rare autosomal dominant disease Schnyder crystalline corneal dystrophy. HH accurately detected the ~1 Mb genomic interval encompassing the causative gene UBIAD1 using the genotypes of only four affected subjects. The successful application of HH to identify the potential linkage for a family with pericentral retinal disorder indicates that HH can be applied to perform family-based association analysis by treating affected and unaffected family members as cases and controls respectively. A new strategy for the genome-wide screening of known causative genes or loci with HH was proposed, as shown the applications to a myoclonus dystonia and a renal failure cohort. Conclusions/Significance: Our study of the HH approach demonstrates that HH is very efficient and effective in identifying potential disease linked region. HH has the potential to be used as an efficient alternative approach to sequencing or microsatellite-based fine mapping for screening the known causative genes in genetic disease study. [ABSTRACT FROM AUTHOR]

Published
2009
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