Marie-claire C. Vincent

Nimes, France

Last Updated: 09/26/2026

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Found 14 publications

Tofersen Treatment in SOD1-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study).

Tofersen Treatment in SOD1-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study).

Journal: Mayo Clinic proceedings. Innovations, quality & outcomes

Published: August 04, 2026

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Journal: Prenatal diagnosis

Published: April 17, 2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

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

Published: December 27, 2024

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology

Published: January 28, 2024

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

Journal: European journal of human genetics : EJHG

Published: December 14, 2023

Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook

Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook

Journal: Gynecologie, obstetrique, fertilite & senologie

Published: May 02, 2023

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

Journal: Brain : a journal of neurology

Published: March 17, 2022

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Journal: Scientific reports

Published: January 07, 2022

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Journal: Scientific reports

Published: January 28, 2020

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Journal: Fetal diagnosis and therapy

Published: February 07, 2018

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Journal: Clinical chemistry and laboratory medicine

Published: May 09, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026