Gwenaelle Beroud-Collod

Marseille, 13005, France

Last Updated: 09/26/2026

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Found 22 publications

Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies.

Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies.

Journal: International journal of molecular sciences

Published: September 28, 2023

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Journal: Frontiers in bioinformatics

Published: December 19, 2022

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

Journal: Human mutation

Published: December 02, 2022

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

Journal: Nature communications

Published: March 03, 2022

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.

Journal: Journal of human genetics

Published: February 25, 2022

Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve.

Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve.

Journal: The international journal of cardiovascular imaging

Published: April 26, 2021

Identification of a peripheral blood gene signature predicting aortic valve calcification.

Identification of a peripheral blood gene signature predicting aortic valve calcification.

Journal: Physiological genomics

Published: October 12, 2020

Piezo1 is required for outflow tract and aortic valve development.

Piezo1 is required for outflow tract and aortic valve development.

Journal: Journal of molecular and cellular cardiology

Published: January 27, 2020

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.

Journal: Journal of clinical medicine

Published: October 29, 2019

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.

Journal: Molecular biology reports

Published: March 20, 2018

Writing tremor: Should we look for a TOR1A mutation?

Writing tremor: Should we look for a TOR1A mutation?

Journal: Journal of the neurological sciences

Published: July 20, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026