Melanie Fradin

Rennes, France

Last Updated: 09/26/2026

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Found 101 publications

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Journal: American journal of human genetics

Published: June 05, 2026

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Journal: Neuromuscular disorders : NMD

Published: February 20, 2026

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation

Published: January 25, 2026

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Journal: Journal of neuropathology and experimental neurology

Published: November 27, 2025

Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

Journal: European journal of human genetics : EJHG

Published: September 16, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Journal: Brain : a journal of neurology

Published: August 12, 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

Laminopathies: natural history and risk prediction of heart failure.

Laminopathies: natural history and risk prediction of heart failure.

Journal: European heart journal

Published: June 06, 2025

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene.

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene.

Journal: Virchows Archiv : an international journal of pathology

Published: May 26, 2025

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

Showing 1-12 of 101

Last Updated: 09/26/2026