Výsledky vyhledávání - Rosa Vargas‐Poussou

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  1. 1
    ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3

    ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3 Autor Olga Andrini, Mathilde Keck, Rodolfo Briones, Stéphane Lourdel, Rosa Vargas‐Poussou, Jacques Teulon

    Vydáno 2015
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  2. 2
    Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

    Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome Autor Rosa Vargas‐Poussou, Chunfa Huang, Philippe Hulin, Pascal Houillier, Xavier Jeunemaı̂tre, Michel Paillard, Gabrielle Planelles, M Déchaux, R. Tyler Miller, Corinne Antignac

    Vydáno 2002
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  3. 3
    A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule

    A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule Autor J. Christopher Hennings, Nicolas Picard, Antje K. Huebner, Tobias Stauber, H. Maier, Dennis Brown, Thomas J. Jentsch, Rosa Vargas‐Poussou, Dominique Eladari, Christian A. Hübner

    Vydáno 2012
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  4. 4
    Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

    Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice Autor Nine V.A.M. Knoers, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S. Lipska‐Ziętkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas‐Poussou, Franz Schaefer

    Vydáno 2021
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  5. 5
    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes

    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes Autor Haifa Hichri, John Rendu, Nicole Monnier, Charles Coutton, Olivier Dorseuil, Rosa Vargas Poussou, Geneviève Baujat, Anne Blanchard, François Nobili, Bruno Ranchin, Michel Remesy, Rémi Salomon, Véronique Satre, Joël Lunardi

    Vydáno 2010
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  6. 6
    Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome

    Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome Autor Anne Blanchard, Rosa Vargas‐Poussou, Marion Vallet, Aurore Caumont‐Prim, Julien Allard, Éstelle Desport, Laurence Dubourg, Matthieu Monge, Damien Bergerot, Stéphanie Baron, Marie Essig, Frank Bridoux, Ivan Tack, Michel Azizi

    Vydáno 2014
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  7. 7
    Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review

    Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review Autor Cas I. van der Made, Ewout J. Hoorn, Renaud de la Faille, Hüseyin Karaaslan, Nine V.A.M. Knoers, Joost G.J. Hoenderop, Rosa Vargas Poussou, Jeroen H. F. de Baaij

    Vydáno 2015
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  8. 8
    Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

    Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Autor Anne Blanchard, Detlef Böckenhauer, Davide Bolignano, Lorenzo A. Calò, Etienne Cosyns, Olivier Devuyst, David H. Ellison, Fiona E. Karet, Nine V.A.M. Knoers, Martin Konrad, Shih-Hua Lin, Rosa Vargas‐Poussou

    Vydáno 2016
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  9. 9
    Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia

    Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia Autor Jean‐Philippe Bertocchio, Muriel Tafflet, Eugénie Koumakis, Gérard Maruani, Rosa Vargas‐Poussou, Caroline Silve, Peter H. Nissen, Stéphanie Baron, Caroline Prot‐Bertoye, Marie Courbebaisse, Jean–Claude Souberbielle, Lars Rejnmark, Catherine Cormier, Pascal Houillier

    Vydáno 2018
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  10. 10
    Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders

    Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubul... Autor Martin Konrad, Tom Nijenhuis, Gema Ariceta, Aurélia Bertholet‐Thomas, Lorenzo A. Calò, Giovambattista Capasso, Francesco Emma, Karl P. Schlingmann, Mandeep Singh, Francesco Trepiccione, Stephen B. Walsh, Kirsty Whitton, Rosa Vargas‐Poussou, Detlef Böckenhauer

    Vydáno 2021
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  11. 11
    Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Autor A. Godron, Jérôme Harambat, Valérie Boccio, A Mensire, Adrien May, Claire Rigothier, Lionel Couzi, Benoı̂t Barrou, M. Godin, Dominique Chauveau, Stanislas Faguer, Marion Vallet, Pierre Cochat, Philippe Eckart, Geneviève Guest, Vincent Guigonis, Pascal Houillier, Anne Blanchard, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou

    Vydáno 2012
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  12. 12
    High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

    High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults Autor Marguerite Hureaux, Emma Ashton, Karin Dahan, Pascal Houillier, Anne Blanchard, Catherine Cormier, Eugénie Koumakis, Daniela Iancu, Hendrica Belge, Pascale Hilbert, Annelies Rotthier, Elena Del Favero, Franz Schaefer, Robert Kleta, Detlef Böckenhauer, Xavier Jeunemaı̂tre, Olivier Devuyst, Stephen B. Walsh, Rosa Vargas‐Poussou

    Vydáno 2019
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  13. 13
    Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

    Distal renal tubular acidosis: ERKNet/ESPN clinical practice points Autor Francesco Trepiccione, Steven Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepańska, Velibor Tasić, Rezan Topaloĝlu, Rosa Vargas‐Poussou, Tanja Wlodkowski, Detlef Böckenhauer

    Vydáno 2021
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  14. 14
    Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study

    Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study Autor Anne Blanchard, Marion Vallet, Laurence Dubourg, Marguerite Hureaux, Julien Allard, Jean‐Philippe Haymann, Renaud de la Faille, Armelle Arnoux, Aurelie Dinut, Damien Bergerot, Pierre‐Hadrien Becker, Pierre‐Yves Courand, Stéphanie Baron, Pascal Houillier, Ivan Tack, Olivier Devuyst, Xavier Jeunemaı̂tre, Michel Azizi, Rosa Vargas‐Poussou

    Vydáno 2019
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  15. 15
    Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome

    Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome Autor Martin Konrad, Martin Vollmer, Henny H. Lemmink, Lambertus P. van den Heuvel, Nikola Jeck, Rosa Vargas‐Poussou, Alicia L. Lakings, Rainer Ruf, Georges DescheCombining Circumflex Accentnes, Corinne Antignac, Lisa M. Guay‐Woodford, Nine V.A.M. Knoers, HannsjoCombining Diaeresisrg W. Seyberth, Delphine Feldmann, Friedhelm Hildebrandt

    Vydáno 2000
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  16. 16
    Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome

    Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome Autor Rosa Vargas‐Poussou, Delphine Feldmann, Martin Vollmer, Martin Konrad, Lisa E. Kelly, Lambertus P. van den Heuvel, Lamia Tebourbi, M. Brandis, Lothar Károlyi, Steven Hébert, Henny H. Lemmink, Georges Deschênes, Friedhelm Hildebrandt, Hannsjörg W. Seyberth, Lisa M. Guay‐Woodford, Nine V.A.M. Knoers, Corinne Antignac

    Vydáno 1998
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  17. 17
    Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

    Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies Autor Emma Ashton, Anne Debost‐Legrand, Valérie Benoît, Isabelle Roncelin, Annabelle Vénisse, Maria‐Christina Zennaro, Xavier Jeunemaı̂tre, Daniela Iancu, William G. van’t Hoff, Stephen B. Walsh, Nathalie Godefroid, Annelies Rotthier, Elena Del Favero, Olivier Devuyst, Franz Schaefer, Lucy Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas‐Poussou, Detlef Böckenhauer

    Vydáno 2018
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  18. 18
    Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

    Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome Autor S. Hadj‐Rabia, Gaëlle Brideau, Yasser Al‐Sarraj, Rachid C. Maroun, Marie-Lucile Figueres, Stéphanie Leclerc‐Mercier, Eric Olinger, Stéphanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z. Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A. Curmi, Marios Kambouris, Rosa Vargas‐Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier, Hatem El‐Shanti

    Vydáno 2017
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  19. 19
    Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

    Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome Autor Anne Debost‐Legrand, Cyrielle Tréard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet‐Thomas, Françoise Broux, Bruno Daniele, Stéphane Decramer, Georges Deschênes, D. Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, G Morin, François Nobili, Christine Piétrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas‐Poussou

    Vydáno 2017
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  20. 20
    Spectrum of Mutations in Gitelman Syndrome

    Spectrum of Mutations in Gitelman Syndrome Autor Rosa Vargas‐Poussou, Karin Dahan, Diana Kahila, Annabelle Vénisse, Eva Riveira‐Muñoz, Huguette Debaix, Bernard Grisart, Frank Bridoux, Robert J. Unwin, Bruno Moulin, Jean‐Philippe Haymann, Marie‐Christine Vantyghem, Claire Rigothier, Bertrand Dussol, M. Godin, Hubert Nivet, Laurence Dubourg, Ivan Tack, Anne‐Paule Gimenez‐Roqueplo, Pascal Houillier, Anne Blanchard, Olivier Devuyst, Xavier Jeunemaı̂tre

    Vydáno 2011
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