Veronique Gaston

Toulouse, France

Last Updated: 09/26/2026

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Found 16 publications

Genetic screening of the RNA-binding protein RBM24 and its binding sites in the SOX2 3' untranslated region in a cohort of 50 patients with micro-anophthalmia.

Genetic screening of the RNA-binding protein RBM24 and its binding sites in the SOX2 3' untranslated region in a cohort of 50 patients with micro-anophthalmia.

Journal: Ophthalmic genetics

Published: February 17, 2025

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

Journal: International journal of molecular sciences

Published: January 17, 2024

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Journal: European journal of human genetics : EJHG

Published: December 02, 2022

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Journal: European journal of human genetics : EJHG

Published: August 24, 2022

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Journal: Clinical epigenetics

Published: May 20, 2022

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: April 20, 2022

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Journal: Clinical genetics

Published: October 21, 2021

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Journal: European journal of human genetics : EJHG

Published: November 07, 2019

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Journal: Acta dermato-venereologica

Published: October 22, 2019

Implication of non-coding PAX6 mutations in aniridia.

Implication of non-coding PAX6 mutations in aniridia.

Journal: Human genetics

Published: July 09, 2018

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Journal: Human mutation

Published: April 04, 2017

Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.

Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.

Journal: Acta dermato-venereologica

Published: October 28, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026