Corinne Fouveaut

Paris, 75014, France

Last Updated: 09/26/2026

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Found 11 publications

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Journal: Gene

Published: May 02, 2024

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Journal: Clinical genetics

Published: February 14, 2024

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

Journal: Journal of assisted reproduction and genetics

Published: August 03, 2023

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Journal: American journal of medical genetics. Part A

Published: July 28, 2023

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.

Journal: Human molecular genetics

Published: January 23, 2017

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

Journal: The Journal of clinical endocrinology and metabolism

Published: August 01, 2014

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Journal: European journal of human genetics : EJHG

Published: February 21, 2014

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

Journal: European journal of endocrinology

Published: September 14, 2013

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Journal: American journal of human genetics

Published: November 30, 2012

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.

Journal: European journal of human genetics : EJHG

Published: August 06, 2012

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

Journal: PLoS genetics

Published: March 08, 2012

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Last Updated: 09/26/2026