Renaud Touraine

Saint-etienne-de-valoux, France

Last Updated: 09/26/2026

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Found 113 publications

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Journal: European journal of human genetics : EJHG

Published: November 27, 2025

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Journal: European journal of human genetics : EJHG

Published: November 15, 2025

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats.

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats.

Journal: The Journal of pathology

Published: July 02, 2025

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Journal: Human genetics

Published: December 01, 2024

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Journal: American journal of medical genetics. Part A

Published: June 20, 2024

Genotyping methods for Fuchs corneal endothelial dystrophy.

Genotyping methods for Fuchs corneal endothelial dystrophy.

Journal: Journal francais d'ophtalmologie

Published: June 09, 2024

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Journal: Annals of clinical and translational neurology

Published: February 25, 2024

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Journal: European journal of medical genetics

Published: November 17, 2023

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Journal: ERJ open research

Published: July 12, 2023

Showing 1-12 of 113

Last Updated: 09/26/2026