Publications by authors named "Maude Grelet"

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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Solomon S Merepa, Linda M Reis, Alejandra Damián, Tanya Bardakjian, Adele Schneider, Maude Grelet

Eur J Hum Genet· July 2025

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Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
Rachel Fourneaux, Sarah Castets, Alice Godefroy, Maude Grelet, Juliette Abeillon-du Payrat

Horm Res Paediatr· August 2022

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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet

Genes (Basel)· July 2022

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Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Thibault Coste, Dominique Hervé, Jean Philippe Neau, Eric Jouvent, Fatoumata Ba, Maude Grelet

Brain· October 2021

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Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clarisse Billon, Arnaud Molin, Céline Poirsier, Alix Clemenson, Coralie Dauge, Maude Grelet

Clin Genet· September 2020

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano

Orphanet J Rare Dis· December 2019

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SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.
Maude Grelet, Jérémie Mortreux, Emilie Alazard, Sabine Sigaudy, Nicole Philip

Clin Dysmorphol· October 2019

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Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.
Amélie Pinard, Nathalie Eudes, Julia Mitchell, Fanny Bajolle, Maude Grelet

Mol Biol Rep· October 2018

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