Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Maryse Magen"'
Autor:
Joana Bengoa, Bettina Bessiere, Zahra Assouline, Jean-Paul Bonnefont, Laurent Salomon, Julie Steffann, Maryse Magen, Yves Ville, Agnès Rötig, Sophie Monnot, Nadine Gigarel, Arnold Munnich, Roxana Borghese, Giulia Barcia, Jelena Martinovic
Publikováno v:
Genetics in Medicine. 23:720-731
Prenatal diagnosis of mitochondrial DNA (mtDNA) disorders is challenging due to potential instability of fetal mutant loads and paucity of data connecting prenatal mutant loads to postnatal observations. Retrospective study of our prenatal cohort aim
Autor:
Nadine Gigarel, Fabien Reyal, Pascale de Lonlay, Ghislaine Royer, Chris Ottolenghi, Clément Pontoizeau, Jean-Paul Bonnefont, Arnold Munnich, Manel Guirat, Julie Steffann, Fabienne Jabot-Hanin, Stephanie Gobin-Limballe, Anaïs Brassier, Marlène Rio, Marie Simon, Jean-Baptiste Arnoux, Maryse Magen, Roselyne Gesny
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(5)
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 femal
Autor:
Maryse Magen, Susana Quijano-Roy, Domitille Gras, Mathilde Nizon, Corinne Magdelaine, Catherine Vanhulle, Fabienne Giuliano, Eric Bieth, Véronique Manel, Damien Haye, Pascal Cintas, Florence Petit, Klaus Dieterich, Agnès Viguier, S. Peudenier, Valérie Lauwers-Cances, Mélanie Fradin, Claude Cances, Isabelle Desguerre, Arnaud Isapof, Michèle Mathieu-Dramard, Michaël Jokic
Publikováno v:
Neuromuscular Disorders. 29:114-126
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently
Autor:
Zahra Assouline, Maryse Magen, Julie Steffann, Agnès Rötig, Jean-Paul Bonnefont, Alessandra Pennisi, Arnold Munnich, Giulia Barcia
Publikováno v:
Expert review of molecular diagnostics. 20(10)
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 d
Autor:
Benoît Funalot, Giulia Barcia, Jean-Paul Bonnefont, Zahra Assouline, Maryse Magen, Michel Koenig, Myriam Rachid, J Steffann, Christine Barnerias, Arnold Munnich, Agnès Rötig
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 61 (8), pp.455--458. ⟨10.1016/j.ejmg.2018.03.004⟩
European Journal of Medical Genetics, 2018, 61 (8), pp.455--458. ⟨10.1016/j.ejmg.2018.03.004⟩
European Journal of Medical Genetics, Elsevier, 2018, 61 (8), pp.455--458. ⟨10.1016/j.ejmg.2018.03.004⟩
European Journal of Medical Genetics, 2018, 61 (8), pp.455--458. ⟨10.1016/j.ejmg.2018.03.004⟩
International audience; Freidreich ataxia (FRDA) is the most common hereditary ataxia, nearly 98% of patients harbouring homozygous GAA expansions in intron 1 of the FXN gene (NM\₀00144.4). The remaining patients are compound heterozygous for an ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ca02418a56e61149ec8874e0426801
https://hal.archives-ouvertes.fr/hal-02350803
https://hal.archives-ouvertes.fr/hal-02350803
Autor:
Jean Bergounioux, Cyril Gitiaux, Jean-Paul Bonnefont, Maryse Magen, Susana Quijano-Roy, Isabelle Desguerre, Thierry Blanc
Publikováno v:
Journal of Child Neurology. 28:787-790
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
Autor:
J. Djadi-Prat, Jean-Paul Bonnefont, Caroline Elie, Isabelle Sermet, Maryse Magen, Vincent Couloigner, M. Ferrec, Yves Manach, Bernard Lacour, Gérard Lenoir, M.N. Feuillet-Fieux
Publikováno v:
Rhinology journal. 49:347-355
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 aspects of CF associate
Autor:
Y. Manach, J. Djadi-Prat, Isabelle Sermet, M. Ferrec, Bernard Lacour, V. Couloigner, Gérard Lenoir, J.-P. Bonnefont, Caroline Elie, Maryse Magen, M.N. Feuillet-Fieux
Publikováno v:
Journal of Cystic Fibrosis. 9
Autor:
Laetitia Hesters, Séverine Drunat, Julie Steffann, Nadine Gigarel, Maryse Magen, Philippe Burlet, Arnold Munnich, Alexandra Benachi, Jean-Paul Bonnefont
Publikováno v:
European journal of human genetics : EJHG. 18(4)
With the detection of a homozygous deletion of the survival motor neuron 1 gene (SMN1), prenatal and preimplantation genetic diagnosis (PGD) for spinal muscular atrophy has become feasible and widely applied. The finding of a de novo rearrangement, r