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Discussion suite à la communication : « L’ovaire, un miroir de longévité ? Ou nouveaux liens entre gènes d’Insuffisance Ovarienne Primitive et de tumeurs/cancers

Bulletin de l'Académie nationale de médecine, 2022-02, Vol.206 (2), p.262-264

Misrahi, M.

2022

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L’ovaire, un miroir de longévité ? Ou nouveaux liens entre gènes d’insuffisance ovarienne primitive et de tumeurs/cancers

Bulletin de l'Académie nationale de médecine, 2021-12, Vol.205 (9), p.1117-1128

Misrahi, M.

2021

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BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

Clinical genetics, 2017-08, Vol.92 (2), p.208-212

2017

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La maladie de Wilson : aspects clinicobiologiques

Annales de biologie clinique (Paris), 2005-09, Vol.63 (5), p.457-466

2005

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Delayed Puberty and Primary Amenorrhea Associated with a Novel Mutation of the Human Follicle-Stimulating Hormone Receptor: Clinical, Histological, and Molecular Studies

The journal of clinical endocrinology and metabolism, 2003-08, Vol.88 (8), p.3491-3498

2003

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Molecular pathology of the FSH receptor: New insights into FSH physiology

Molecular and cellular endocrinology, 2008-01, Vol.282 (1), p.130-142

2008

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Serum anti-Müllerian hormone expression in women with premature ovarian failure

Human reproduction (Oxford), 2007-01, Vol.22 (1), p.117-123

2007

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L’étude d’une cohorte de patientes avec diminution de réserve ovarienne révèle des causes génétiques communes avec l’insuffisance ovarienne primitive

Annales d'endocrinologie, 2020-09, Vol.81 (4), p.181-182

2020

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Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families

European journal of neurology, 2009-03, Vol.16 (3), p.337-341

2009

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A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor

The Journal of clinical investigation, 1998-10, Vol.102 (7), p.1352-1359

1998

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Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure

Molecular and cellular endocrinology, 2008-01, Vol.282 (1), p.95-100

2008

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On the Origin of the Transthyretin Val30Met Familial Amyloid Polyneuropathy

Annals of human genetics, 2008-07, Vol.72 (4), p.478-484

2008

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New Natural Inactivating Mutations of the Follicle-Stimulating Hormone Receptor: Correlations between Receptor Function and Phenotype

Molecular endocrinology (Baltimore, Md.), 1999-11, Vol.13 (11), p.1844-1854

1999

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Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

Trends in endocrinology and metabolism, 2018-06, Vol.29 (6), p.400-419

2018

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P–577 Impaired double strand DNA repair in isolated Primary Ovarian Insufficiency with homozygous nonsense mutation of SPIDR

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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Significance of ovarian histology in the management of patients presenting a premature ovarian failure

Human reproduction (Oxford), 2004-11, Vol.19 (11), p.2555-2560

2004

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Ultrastructural nuclear defects and increased chromosome aneuploidies in spermatozoa with elongated heads

Human reproduction (Oxford), 2007-04, Vol.22 (4), p.1052-1059

2007

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892 CLAUDIN-1 GENE VARIANTS AND SUSCEPTIBILITY TO HEPATITIS C INFECTION IN HIV-1 INFECTED INTRAVENOUS DRUG USERS (AN ANRS CASE-CONTROL STUDY)

Journal of hepatology, 2012-04, Vol.56, p.S347-S347

2012

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Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families

Journal of medical genetics, 2003-11, Vol.40 (11), p.e120-120

2003

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Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility

Reproductive biomedicine online, 2012-01, Vol.24 (1), p.72-82

2012

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Primary ovarian failure and precocious menopause: genetic causes

Annales d'endocrinologie, 2003-11, Vol.64 (5 Pt 1), p.398-401

Misrahi, M

2003

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O-305 Next-generation sequencing of a cohort of 100 patients with diminished ovarian reserve reveals an etiology in 27% of cases and may predict the fertility prognosis

Human reproduction (Oxford), 2023-06, Vol.38 (Supplement_1)

2023

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O-111 Premature ovarian insufficiency: new data and updated guidance

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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Shedding of human thyrotropin receptor ectodomain. Involvement of a matrix metalloprotease

The Journal of biological chemistry, 1996-02, Vol.271 (8), p.4545

1996

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Discussion suite à la communication : « L’ovaire, un miroir de longévité ? Ou nouveaux liens entre gènes d’Insuffisance Ovarienne Primitive et de tumeurs/cancers

L’ovaire, un miroir de longévité ? Ou nouveaux liens entre gènes d’insuffisance ovarienne primitive et de tumeurs/cancers

BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

La maladie de Wilson : aspects clinicobiologiques

Delayed Puberty and Primary Amenorrhea Associated with a Novel Mutation of the Human Follicle-Stimulating Hormone Receptor: Clinical, Histological, and Molecular Studies

Molecular pathology of the FSH receptor: New insights into FSH physiology

Architecture génétique de l’insuffisance ovarienne primitive à partir d’une large cohorte de 375 patientes : nouveaux gènes et voies moléculaires identifiés, implication pour une médecine personnalisée

Serum anti-Müllerian hormone expression in women with premature ovarian failure

L’étude d’une cohorte de patientes avec diminution de réserve ovarienne révèle des causes génétiques communes avec l’insuffisance ovarienne primitive

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families

A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor

Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure

On the Origin of the Transthyretin Val30Met Familial Amyloid Polyneuropathy

New Natural Inactivating Mutations of the Follicle-Stimulating Hormone Receptor: Correlations between Receptor Function and Phenotype

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

P–577 Impaired double strand DNA repair in isolated Primary Ovarian Insufficiency with homozygous nonsense mutation of SPIDR

Significance of ovarian histology in the management of patients presenting a premature ovarian failure

Ultrastructural nuclear defects and increased chromosome aneuploidies in spermatozoa with elongated heads

892 CLAUDIN-1 GENE VARIANTS AND SUSCEPTIBILITY TO HEPATITIS C INFECTION IN HIV-1 INFECTED INTRAVENOUS DRUG USERS (AN ANRS CASE-CONTROL STUDY)

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families

Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility

Primary ovarian failure and precocious menopause: genetic causes

O-305 Next-generation sequencing of a cohort of 100 patients with diminished ovarian reserve reveals an etiology in 27% of cases and may predict the fertility prognosis

O-111 Premature ovarian insufficiency: new data and updated guidance

Shedding of human thyrotropin receptor ectodomain. Involvement of a matrix metalloprotease

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