Frederic Brioude

Paris, France

Last Updated: 09/26/2026

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Found 64 publications

Culture-dependent decoupling of H19 allele-specific expression from H19/IGF2:IG-DMR methylation in experimental models.

Culture-dependent decoupling of H19 allele-specific expression from H19/IGF2:IG-DMR methylation in experimental models.

Journal: Epigenetics

Published: July 30, 2026

Imprinting disorders and multiple imprinting abnormalities (multilocus imprinting disturbances): New diagnoses, new perspectives.

Imprinting disorders and multiple imprinting abnormalities (multilocus imprinting disturbances): New diagnoses, new perspectives.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Assessment of combined growth hormone and gonadotropin-releasing hormone analogue treatment in children with Silver-Russell syndrome.

Assessment of combined growth hormone and gonadotropin-releasing hormone analogue treatment in children with Silver-Russell syndrome.

Journal: Hormone research in paediatrics

Published: October 17, 2025

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Journal: Clinical epigenetics

Published: September 23, 2025

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: September 02, 2025

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development.

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development.

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2025

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 28, 2025

Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers.

Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers.

Journal: European journal of endocrinology

Published: May 23, 2025

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

Journal: Clinical epigenetics

Published: April 04, 2025

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

HDR syndrome: Large cohort and systematic review.

HDR syndrome: Large cohort and systematic review.

Journal: Clinical genetics

Published: March 21, 2024

Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.

Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.

Journal: European journal of endocrinology

Published: September 30, 2023

Showing 1-12 of 64

Last Updated: 09/26/2026