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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

Journal of medical genetics, 2007-02, Vol.44 (2), p.107-121

2007

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Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2

Biochimica et biophysica acta, 2004-09, Vol.1679 (3), p.230-247

2004

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BRCA1 Wild-Type Allele Modifies Risk of Ovarian Cancer in Carriers of BRCA1 Germ-Line Mutations

Cancer epidemiology, biomarkers & prevention, 2003-02, Vol.12 (2), p.90-95

2003

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A new alternative splice variant of BRCA1 containing an additional in-frame exon

Biochimica et biophysica acta, 2005-10, Vol.1731 (1), p.57-65

2005

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V1538: Acute Page Kidney after Renal Allograft Biopsy

The Journal of urology, 2007-04, Vol.177 (4), p.508-508

2007

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No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families

Genetic testing, 2006-06, Vol.10 (2), p.104

2006

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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

The journal of clinical endocrinology and metabolism, 1999, Vol.84 (12), p.4410-4425

1999

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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

The journal of clinical endocrinology and metabolism, 2000-05, Vol.85 (5), p.1968-1974

2000

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Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency

Seminars in reproductive medicine, 2002-08, Vol.20 (3), p.255-276

2002

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Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase/ Δ5-Δ4 Isomerase Deficiency

Seminars in reproductive medicine, 2002, Vol.20 (3), p.255-276

2002

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Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase/ Δ 5 -Δ 4 Isomerase Deficiency

Seminars in reproductive medicine, 2002, Vol.20 (3), p.255-276

2002

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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

Journal of pediatric endocrinology & metabolism : JPEM, 2005-04, Vol.18 (4), p.403

2005

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Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi step testing approach in French-Canadian families with high risk of breast and ovarian cancer

Journal of medical genetics, 2007, Vol.44 (2), p.107-121

2007

Volltextzugriff (PDF)

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 1

The journal of clinical endocrinology and metabolism, 2000-05, Vol.85 (5), p.1968-1974

2000

Volltextzugriff (PDF)

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 Puberty1

The journal of clinical endocrinology and metabolism, 2000-05, Vol.85 (5), p.1968-1974

2000

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Males With 17β-Hydroxysteroid Dehydrogenase Deficiency

The Endocrinologist (Baltimore, Md.), 2003-05, Vol.13 (3), p.195-200

2003

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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 Enzymes1

The journal of clinical endocrinology and metabolism, 1999-12, Vol.84 (12), p.4410-4425

1999

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Génétique moléculaire de l'hyperplasie congénitale des surrénales causé par un déficit enzymatique en 3β-hydroxystéroïde déshydrogénase ou en 17α-hydroxylase/17,20-lyase

Moisan, Anne-Marie

2000

Volltextzugriff (PDF)

A New Insight Into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency

Endocrine research, 2000, Vol.26 (4), p.761-770

2000

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Effect of a high-fat–high-fructose diet, stress and cinnamon on central expression of genes related to immune system, hypothalamic–pituitary–adrenocortical axis function and cerebral plasticity in rats

British journal of nutrition, 2014-04, Vol.111 (7), p.1190-1201

2014

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Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Annals of neurology, 2011-05, Vol.69 (5), p.778-792

2011

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Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights

Journal of hepatology, 2002-06, Vol.36 (6), p.851-856

2002

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Effects of a high-fat-high-fructose diet, stress and cinnamon on central expression of genes related to immune system, hypothalamic-pituitary-adrenocortical axis function and cerebral plasticity in rats - CORRIGENDUM

British journal of nutrition, 2014-06, Vol.111 (11), p.2044-2044

2014

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Independent and joint effects of the MAPT and SNCA genes in Parkinson's disease

Annals of neurology, 2011-03, Vol.69 (5), p.778-792

2011

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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

Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2

Common BRCA2 Variants and Modification of Breast and Ovarian Cancer Risk in BRCA1 Mutation Carriers

BRCA1 Wild-Type Allele Modifies Risk of Ovarian Cancer in Carriers of BRCA1 Germ-Line Mutations

A new alternative splice variant of BRCA1 containing an additional in-frame exon

V1538: Acute Page Kidney after Renal Allograft Biopsy

No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families

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

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

Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency

Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase/ Δ5-Δ4 Isomerase Deficiency

Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase/ Δ 5 -Δ 4 Isomerase Deficiency

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

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi step testing approach in French-Canadian families with high risk of breast and ovarian cancer

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 1

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 Puberty1

Males With 17β-Hydroxysteroid Dehydrogenase Deficiency

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 Enzymes1

Génétique moléculaire de l'hyperplasie congénitale des surrénales causé par un déficit enzymatique en 3β-hydroxystéroïde déshydrogénase ou en 17α-hydroxylase/17,20-lyase

A New Insight Into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency

Effect of a high-fat–high-fructose diet, stress and cinnamon on central expression of genes related to immune system, hypothalamic–pituitary–adrenocortical axis function and cerebral plasticity in rats

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights

Effects of a high-fat-high-fructose diet, stress and cinnamon on central expression of genes related to immune system, hypothalamic-pituitary-adrenocortical axis function and cerebral plasticity in rats - CORRIGENDUM

Independent and joint effects of the MAPT and SNCA genes in Parkinson's disease

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