Publication(s)
Contribution des mutations dans les gènes BRCA1 et BRCA2 chez les Canadiennes françaises à risque élevé de développer un cancer du sein et/ou de l’ovaire.
- Thèse présentée à la Faculté des études supérieures de l’Université Laval dans le cadre du programme de Doctorat en Physiologie-Endocrinologie pour l’obtention du grade de Philosophiae Doctor (Ph.D.)
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
- Jacques Simard, Martine Dumont, Anne-Marie Moisan, Valérie Gaborieau, Hélène Vézina, Francine Durocher, Jocelyne Chiquette, Marie Plante, Denise Avard, Paul Bessette, Claire Brousseau, Michel Dorval, Béatrice Godard, Louis Houde, Yann Joly, Marie-Andrée Lajoie, Gilles Leblanc, Jean Le ‘pine, Bernard Lespérance, Hélène Malouin, Jillian Parboosingh, Roxane Pichette, Louise Provencher, Josée Rhéaume, Daniel Sinnett, Carolle Samson, Jean-Claude Simard, Martine Tranchant, Patricia Voyer, INHERIT BRCAs, Douglas Easton, Sean V Tavtigian, Bartha-Maria Knoppers, Rachel Laframboise, Peter Bridge, David Goldgar
Journal of Medical Genetics 2007; 44: 107 – 121
No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families.
- Moisan Anne Marie, Fortin Jessika, Dumont Martine, Samson Carolle, Bessette Paul, Chiquette Jocelyne, Laframboise Rachel, Lépine Jean, Lespérance Bernard, Pichette Roxane, Plante Marie, Provencher Louise, Voyer Patricia, Goldgar David, Bridge Peter, Simard Jacques.
Genetic Testing 2006 summer; 10(2): 104 – 15
A new alternative splice variant of BRCA1 containing an additional in-frame exon
- Jessyka Fortin, Anne-Marie Moisan, Martine Dumont, Gilles Leblanc, Yvan Labrie, Francine Durocher, Paul Bessette, Peter Bridge, Jocelyne Chiquette, Rachel Laframboise, Jean Lépine, Bernard Lespérance, Roxanne Pichette, Marie Plante, Louise Provencher, Patricia Voyer, Jacques Simard
Biochimica et Biophysica Acta 1731 (2005) 57 – 65
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.
- Schwab Karl O, Moisan Anne Marie, Homoki J, Peter Michael, Simard Jacques.
Journal of Pediatric Endocrinology and Metabolism 2005 Apr;18(4): 403 – 41
Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2
- Martine Dumont, David Frank, Anne-Marie Moisan, Martine Tranchant, Penny Soucy, Rock Breton, Fernand Labrie, Sean V. Tavtigian, Jacques Simard
Biochimica et Biophysica Acta 1679 (2004) 230 – 247
Congenital Adrenal Hyperplasia due to 3-Hydroxysteroid Dehydrogenase/ Isomerase Deficiency
- Jacques Simard, Ph.D., Anne Marie Moisan, Ph.D., and Yves Morel, Ph.D.
Seminars in reproductive medicine. Volume 20, Number 3 2002, 255 – 276
A Novel A10E Homozygous Mutation in the HSD3B2 Gene Causing Severe Salt-Wasting 3b-Hydroxysteroid Dehydrogenase Deficiency in 46,XX and 46,XY French-Canadians: Evaluation of Gonadal Function after Puberty
- Nathalie Alos, Anne-Marie Moisan, Léanne Ward, Marc Desrochers, Laurent Legault, Gilles Leboeuf, Guy Van Vliet and Jacques Simard
The Journal of Clinical Endocrinology & Metabolism, Vol. 85, No. 5, 2000, 1967 – 1974
New Insight into the Molecular Basis of 3b-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzymes
- Anne-Marie Moisan, Marie-Louise Ricketts, Véronique Tardy, Marc Desrochers, Farida Mébarki, Jean-Louis Chaussain, Sylvie Cabrol, Marie-Charles Raux-Demay, Maguelone G. Forest, Wolfang G. Sippell, Michael Peter, Yves Morel and Jacques Simard
The Journal of Clinical Endocrinology & Metabolism, Vol. 84, No. 12, 1999, 4410 – 4425