Kolexia
Claustres Mireille Biologie médicale
Claustres Mireille
Biologie médicale
CHU Montpellier
Limoges, France
99 Activités
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{{person.topmesh1.name}} Mucoviscidose Fibrose Syndromes d'Usher Myopathie de Duchenne Dystrophies musculaires Maladies pulmonaires Ataxie Ataxie cérébelleuse Rétinite pigmentaire

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Koenig Michel
Koenig Michel
CHU Montpellier, Limoges, France
Roux Anne-Francoise
Roux Anne-Francoise
Hôpital Arnaud de Villeneuve, Limoges, France
Bergougnoux Anne
Bergougnoux Anne
Hôpital Arnaud de Villeneuve, Limoges, France
Raynal Caroline
Raynal Caroline
Hôpital Arnaud de Villeneuve, Limoges, France

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Dernières activités

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Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society   21 décembre 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes and .
International journal of molecular sciences   10 décembre 2021
DNA Methylation at cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.
Genes   19 mars 2021
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expression.
The Journal of pathology   26 novembre 2020
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
International journal of molecular sciences   21 octobre 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Frontiers in genetics   03 juillet 2020
Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis.
PloS one   17 avril 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
European journal of human genetics : EJHG   02 janvier 2020
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Human mutation   15 novembre 2019
ATP8A2-related disorders as recessive cerebellar ataxia.
Journal of neurology   14 octobre 2019