Maryse Magen

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

Brian Sperelakis‐Beedham, Cyril Gitiaux, Marine Rajaoba, Maryse Magen et autres

fr (code pays fourni par la source)

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

Stéphanie Gobin‐Limballe, Chris Ottolenghi, Fabien Reyal, Jean‐Baptiste Arnoux et autres

OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking advantage of a cohort of 130 families (289 females), we assessed the …

fr (code pays fourni par la source)

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

Julie Steffann, Sophie Monnot, Maryse Magen, Zahra Assouline et autres

fr (code pays fourni par la source)

Improving post-natal detection of mitochondrial DNA mutations

Giulia Barcia, Zahra Assouline, Maryse Magen, Alessandra Pennisi et autres

INTRODUCTION: Currently, genetic testing of mitochondrial DNA mutations includes screening for single-nucleotide variants, several base pair insertions or deletions, large-scale deletions, or relative depletion of total mitochondrial DNA content. Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in …

fr (code pays fourni par la source)

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

Agnès Viguier, Valérie Lauwers‐Cancès, Pascal Cintas, Véronique Manel et autres

fr (code pays fourni par la source)

Pitfalls in molecular diagnosis of Friedreich ataxia

Giulia Barcia, Myriam L. Rachid, Maryse Magen, Zahra Assouline et autres

fr, be (code pays fourni par la source)

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

Yamina Sifi, Karima Sifi, A. Boulefkhad, N. Abadi et autres

Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder. It is divided into the acute Werdnig-Hoffmann disease (type I), the intermediate form (type II), the Kugelberg-Welander disease (type III), and the adult form (type IV). The gene involved …

Algérie, fr (code pays fourni par la source)

Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy

Cyril Gitiaux, Jean Bergounioux, Maryse Magen, Susana Quijano‐Roy et autres

The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months …

fr (code pays fourni par la source)

Nasal polyposis and cystic fibrosis(CF): review of the literature

M.N. Feuillet-Fieux, G. Lenoir, Isabelle Sermet‐Gaudelus, Céline Elie et autres

The aim of this study was to address whether NP might be a predictive factor for severity of CF. The authors collected data from the literature on NP as a unique or associated sign in CF and reviewed the clinical and molecular …

fr (code pays fourni par la source)

Nasal polyposis and cystic fibrosis: review of literature and case report

M.N. Feuillet-Fieux, G. Lenoir, Isabelle Sermet‐Gaudelus, C. Elie et autres

ch (code pays fourni par la source)

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy

Philippe Burlet, Nadine Gigarel, Maryse Magen, Séverine Drunat et autres

fr (code pays fourni par la source)

Quantitative RNA slot-blot analysis of CCND1/cyclin D1 expression in suspected mantle cell lymphoma

Laurent Mauvieux, Danielle Canioni, Olivier Hermine, Françoise Valensi et autres

fr (code pays fourni par la source)