Maud Langeois

Toulouse, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 publications

FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia.

FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia.

Journal: American journal of respiratory cell and molecular biology

Published: December 11, 2025

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights.

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights.

Journal: Prenatal diagnosis

Published: May 28, 2025

PIGO Gene Variants: New Insights Into Prenatal Diagnosis.

PIGO Gene Variants: New Insights Into Prenatal Diagnosis.

Journal: Prenatal diagnosis

Published: March 09, 2025

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.

Journal: Orphanet journal of rare diseases

Published: February 12, 2025

Simple Renal Cysts in Marfan Syndrome: Prevalence and Association With Aortic Events.

Simple Renal Cysts in Marfan Syndrome: Prevalence and Association With Aortic Events.

Journal: JACC. Advances

Published: December 23, 2024

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.

Journal: Orphanet journal of rare diseases

Published: August 07, 2023

Muscular phenotype description of abnormal THOC2 splicing.

Muscular phenotype description of abnormal THOC2 splicing.

Journal: Neuromuscular disorders : NMD

Published: August 02, 2023

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Journal: Molecular genetics & genomic medicine

Published: April 20, 2021

Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.

Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 19, 2020

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 03, 2020

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Journal: Genes

Published: April 22, 2020

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Journal: Molecular genetics & genomic medicine

Published: November 22, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026