A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3β-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians : Evaluation of gonadal function after puberty
ALOS, N, MOISAN, A.-M, WARD, L, DESROCHERS, M, LEGAULT, L, LEBOEUF, G, VAN VLIET, G, SIMARD, J
Published in The journal of clinical endocrinology and metabolism (01.05.2000)
Published in The journal of clinical endocrinology and metabolism (01.05.2000)
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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
Simard, Jacques, Dumont, Martine, Moisan, Anne-Marie, Gaborieau, Valérie, Vézina, Hélène, Durocher, Francine, Chiquette, Jocelyne, Plante, Marie, Avard, Denise, Bessette, Paul, Brousseau, Claire, Dorval, Michel, Godard, Béatrice, Houde, Louis, Joly, Yann, Lajoie, Marie-Andrée, Leblanc, Gilles, Lépine, Jean, Lespérance, Bernard, Malouin, Hélène, Parboosingh, Jillian, Pichette, Roxane, Provencher, Louise, Rhéaume, Josée, Sinnett, Daniel, Samson, Carolle, Simard, Jean-Claude, Tranchant, Martine, Voyer, Patricia, Easton, Douglas, Tavtigian, Sean V, Knoppers, Bartha-Maria, Laframboise, Rachel, Bridge, Peter, Goldgar, David
Published in Journal of medical genetics (01.02.2007)
Published in Journal of medical genetics (01.02.2007)
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New insight into the molecular basis of 3β-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
MOISAN, A. M, RICKETTS, M. L, PETER, M, MOREL, Y, SIMARD, J, TARDY, V, DESROCHERS, M, MEBARKI, F, CHAUSSAIN, J.-L, CABROL, S, RAUX-DEMAY, M. C, FOREST, M. G, SIPPELL, W. G
Published in The journal of clinical endocrinology and metabolism (1999)
Published in The journal of clinical endocrinology and metabolism (1999)
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Common BRCA2 Variants and Modification of Breast and Ovarian Cancer Risk in BRCA1 Mutation Carriers
HUGHES, David J, GINOLHAC, Sophie M, HARDOUIN, Agnès, BERTHET, Pascaline, PEYRAT, Jean-Philippe, FOURNIER, Joelle, NOGUES, Catherine, LIDEREAU, Rosette, MULLER, Danièle, FRICKER, Jean-Pierre, LONGY, Michel, TOULAS, Christine, COUPIER, Isabelle, GUIMBAUD, Rosine, MAUGARD, Christine, OLSCHWANG, Sylviane, YANNOUKAKOS, Drakoulis, DUROCHER, Francine, MOISAN, Anne-Marie, SIMARD, Jacques, MAZOYER, Sylvie, LYNCH, Henry T, SZABO, Csilla, CORBEX, Marilys, LENOIR, Gilbert M, GOLDGAR, David E, STOPPA-LYONNET, Dominique, SINILNIKOVA, Olga M, BRESSAC-DE-PAILLERETS, Brigitte, CHOMPRET, Agnès, BIGNON, Yves-Jean, UHRHAMMER, Nancy, LASSET, Christine, GIRAUD, Sophie
Published in Cancer epidemiology, biomarkers & prevention (01.01.2005)
Published in Cancer epidemiology, biomarkers & prevention (01.01.2005)
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Journal Article
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty
Alos, N, Moisan, A M, Ward, L, Desrochers, M, Legault, L, Leboeuf, G, Van Vliet, G, Simard, J
Published in The journal of clinical endocrinology and metabolism (01.05.2000)
Get full text
Published in The journal of clinical endocrinology and metabolism (01.05.2000)
Journal Article
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes
Moisan, A M, Ricketts, M L, Tardy, V, Desrochers, M, Mébarki, F, Chaussain, J L, Cabrol, S, Raux-Demay, M C, Forest, M G, Sippell, W G, Peter, M, Morel, Y, Simard, J
Published in The journal of clinical endocrinology and metabolism (01.12.1999)
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Published in The journal of clinical endocrinology and metabolism (01.12.1999)
Journal Article
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency
Simard, J, Ricketts, M L, Moisan, A M, Tardy, V, Peter, M, Van Vliet, G, Morel, Y
Published in Endocrine research (01.11.2000)
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Published in Endocrine research (01.11.2000)
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BRCA1 Wild-Type Allele Modifies Risk of Ovarian Cancer in Carriers of BRCA1 Germ-Line Mutations
GINOLHAC, Sophie M, GAD, Sophie, MULLER, Danièle, FRICKER, Jean-Pierre, HARDOUIN, Agnès, BERTHET, Pascaline, MAUGARD, Christine, NOGUES, Catherine, LIDEREAU, Rosette, LONGY, Michel, OLSCHWANG, Sylviane, TOULAS, Christine, CORBEX, Marilys, GUIMBAUD, Rosine, YANNOUKAKOS, Drakoulis, SZABO, Csilla, DUROCHER, Francine, MOISAN, Anne-Marie, SIMARD, Jacques, MAZOYER, Sylvie, LYNCH, Henry T, GOLDGAR, David, STOPPA-LYONNET, Dominique, BRESSAC-DE-PAILLERETS, Brigitte, LENOIR, Gilbert M, SINILNIKOVA, Olga M, CHOMPRET, Agnès, BIGNON, Yves-Jean, PEYRAT, Jean-Philippe, FOURNIER, Joelle, LASSET, Christine, GIRAUD, Sophie
Published in Cancer epidemiology, biomarkers & prevention (01.02.2003)
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Published in Cancer epidemiology, biomarkers & prevention (01.02.2003)
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A new alternative splice variant of BRCA1 containing an additional in-frame exon
Fortin, Jessyka, Moisan, Anne-Marie, Dumont, Martine, Leblanc, Gilles, Labrie, Yvan, Durocher, Francine, Bessette, Paul, Bridge, Peter, Chiquette, Jocelyne, Laframboise, Rachel, Lépine, Jean, Lespérance, Bernard, Pichette, Roxanne, Plante, Marie, Provencher, Louise, Voyer, Patricia, Simard, Jacques
Published in Biochimica et biophysica acta (15.10.2005)
Published in Biochimica et biophysica acta (15.10.2005)
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Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2
Dumont, Martine, Frank, David, Moisan, Anne-Marie, Tranchant, Martine, Soucy, Penny, Breton, Rock, Labrie, Fernand, Tavtigian, Sean V., Simard, Jacques
Published in Biochimica et biophysica acta (17.09.2004)
Published in Biochimica et biophysica acta (17.09.2004)
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Journal Article
No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families
Moisan, Anne-Marie, Fortin, Jessyka, 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
Published in Genetic testing (01.06.2006)
Published in Genetic testing (01.06.2006)
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