
Patrick Revy
Co-Responsable du laboratoire, Genome dynamics in the immune system
Summary
Published articles Show More
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
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Published in Nature Genetics
Nat. Genet.; 10.1038/ng.3661; corrected online 19 September 2016 In the version of this article initially published, the names of authors Geraldine Aubert, Gerardine Quaghebeur and Yoann Rose were misspelled. The error has been corrected in the print, HTML and PDF versions of the article.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
...Published in Nature Genetics
Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Here we show tha...
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis
...Published in European Respiratory Journal
Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis.We retrospectively analysed all the geneti...
Theses Show More
Caractérisation phénotypique et moléculaire du syndrome de Hoyeraal-Hreidarsson
Le maintien de l'intégrité du génome est essentiel pour la survie cellulaire et la propagation de l'information génétique. Une mauvaise prise en charge des dommages de l’ADN et / ou une aberration de la maintenance de l’intégrité des télomères - les extrémités des chromosomes linéaires - provoquent chez l'homme des pathologies associées à une insta...
Experience
Co-Responsable du laboratoire Since 2014
université Paris Descartes
Genome dynamics in the immune system; UMR_S 1163, IHU IMAGINE, Institut des maladies génétiques