Catherine Dode

Paris, France

Last Updated: 09/26/2026

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Found 20 publications

Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Journal: Journal of the Endocrine Society

Published: August 19, 2020

Next-generation sequencing of patients with congenital anosmia.

Next-generation sequencing of patients with congenital anosmia.

Journal: European journal of human genetics : EJHG

Published: March 22, 2017

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

First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.

First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.

Journal: BMC medical genetics

Published: October 24, 2016

Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.

Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.

Journal: Clinical and experimental rheumatology

Published: September 17, 2016

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 08, 2016

Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.

Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.

Journal: Annales d'endocrinologie

Published: March 26, 2016

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 23, 2016

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 25, 2015

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Journal: Nature reviews. Endocrinology

Published: July 22, 2015

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 17, 2014

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

Showing 1-12 of 20

Last Updated: 09/26/2026