R
Rosa Vargas-Poussou
Researcher at French Institute of Health and Medical Research
Publications - 73
Citations - 2483
Rosa Vargas-Poussou is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Bartter syndrome & Gitelman syndrome. The author has an hindex of 24, co-authored 64 publications receiving 1805 citations. Previous affiliations of Rosa Vargas-Poussou include Paris Descartes University & University of Paris.
Papers
More filters
Journal ArticleDOI
Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome
Martin Konrad,Martin Vollmer,Henny H. Lemmink,Lambertus P. W. J. Van Den Heuvel,Nikola Jeck,Rosa Vargas-Poussou,Alicia Lakings,Rainer G. Ruf,Georges Deschênes,Corinne Antignac,Lisa M. Guay-Woodford,Nine V A M Knoers,Hannsjörg W. Seyberth,Delphine Feldmann,Friedhelm Hildebrandt +14 more
TL;DR: 16 novel mutations are added to the nine already described, providing further evidence that mutations in the gene for the basolateral chloride channel CLC-Kb are the molecular basis of classic Bartter syndrome.
Journal ArticleDOI
Gitelman Syndrome: Consensus and Guidance From a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Anne Blanchard,Detlef Bockenhauer,Detlef Bockenhauer,Davide Bolignano,Lorenzo A. Calò,Etienne Cosyns,Olivier Devuyst,David H. Ellison,Fiona E. Karet Frankl,Nine V A M Knoers,Martin Konrad,Shih-Hua Lin,Rosa Vargas-Poussou +12 more
TL;DR: This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care and identify knowledge gaps in Gitelman syndrome.
Journal ArticleDOI
Spectrum of Mutations in Gitelman Syndrome
Rosa Vargas-Poussou,Karin Dahan,Diana Kahila,Annabelle Venisse,Eva Riveira-Munoz,Huguette Debaix,Bernard Grisart,Franck Bridoux,Robert J. Unwin,Bruno Moulin,Jean-Philippe Haymann,Marie-Christine Vantyghem,Claire Rigothier,Bertrand Dussol,Michel Godin,Hubert Nivet,Laurence Dubourg,Ivan Tack,Anne-Paule Gimenez-Roqueplo,Pascal Houillier,Anne Blanchard,Olivier Devuyst,Xavier Jeunemaitre +22 more
TL;DR: Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter.
Journal ArticleDOI
Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome
Rosa Vargas-Poussou,Delphine Feldmann,Martin Vollmer,Martin Konrad,L. Kelly,L.P.W.J. van den Heuvel,L. Tebourbi,Matthias Brandis,Lothar Károlyi,Steven C. Hebert,Henny H. Lemmink,Georges Deschênes,Friedhelm Hildebrandt,Hannsjoerg W. Seyberth,Lisa M. Guay-Woodford,Nine V A M Knoers,Corinne Antignac +16 more
TL;DR: 14 novel mutations in patients with antenatal Bartter syndrome are reported, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing.
Journal ArticleDOI
Genetic Investigation of Autosomal Recessive Distal Renal Tubular Acidosis: Evidence for Early Sensorineural Hearing Loss Associated with Mutations in the ATP6V0A4 Gene
Rosa Vargas-Poussou,Pascal Houillier,Nelly Le Pottier,Laurence Strompf,Chantal Loirat,Véronique Baudouin,Marie-Alice Macher,Michèle Dechaux,Tim Ulinski,François Nobili,Philippe Eckart,Robert Novo,Mathilde Cailliez,Rémi Salomon,Hubert Nivet,Pierre Cochat,Ivan Tack,Anne Fargeot,François Bouissou,Gwenaelle Roussey Kesler,Stéphanie Lorotte,Nathalie Godefroid,Valérie Layet,Gilles Morin,Xavier Jeunemaitre,Anne Blanchard +25 more
TL;DR: It is demonstrated that mutations in either of these genes may cause early deafness, and they highlight the importance of genetic screening for recessive forms of dRTA independent of hearing status.