Rosa Vargas-Poussou: search on Z-Library

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1

Syndromes de BartterâGitelman

Blanchard, Anne, Courand, Pierre-Yves, Livrozet, Marine, Vargas-Poussou, Rosa

Journal:

Néphrologie & Thérapeutique

Year:

2020

File:

PDF, 775 KB

2020

2

p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

Nozières, Cecile, Zhang, Chang-Xian, Buffet, Alexandre, Dupasquier, Stéphanie, Vargas-Poussou, Rosa, Guillaud-Bataille, Marine, Cordier-Bussat, Martine, Ruszniewski, Philippe, Christin-Maitre, Sophie,

Journal:

Annales d'Endocrinologie

Year:

2014

File:

PDF, 1.06 MB

2014

3

Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia

Bertocchio, Jean-Philippe, Tafflet, Muriel, Koumakis, Eugénie, Maruani, Gérard, Vargas-Poussou, Rosa, Silve, Caroline, Nissen, Peter H, Baron, Stéphanie, Prot-Bertoye, Caroline, Courbebaisse, Marie, S

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2018

Language:

english

File:

PDF, 433 KB

english, 2018

4

Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene

Hanukoglu, Aaron, Vargas-Poussou, Rosa, Landau, Zohar, Yosovich, Keren, Hureaux, Marguerite, Zennaro, Maria-Christina

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2020

File:

PDF, 725 KB

2020

5

Fetal urine biochemistry in antenatal Bartter syndrome: a case report

Rachid, Myriam L., Dreux, Sophie, Czerkiewicz, Isabelle, Deschênes, Georges, Vargas-Poussou, Rosa, Mahieu-Caputo, Dominique, Oury, Jean-François, Muller, Françoise

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

6

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification

Bignon, Yohan, Alekov, Alexi, Frachon, Nadia, Lahuna, Olivier, Jean-Baptiste Doh-Egueli, Carine, Deschênes, Georges, Vargas-Poussou, Rosa, Lourdel, Stéphane

Journal:

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

7

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

Bertulli, Cristina, Hureaux, Marguerite, De Mutiis, Chiara, Pasini, Andrea, Bockenhauer, Detlef, Vargas-Poussou, Rosa, La Scola, Claudio

Journal:

Year:

2020

File:

PDF, 1.67 MB

2020

8

Bartter Syndrome Prenatal Diagnosis Based on Amniotic Fluid Biochemical Analysis

Garnier, Arnaud, Dreux, Sophie, Vargas-Poussou, Rosa, Oury, Jean-François, Benachi, Alexandra, Deschênes, Georges, Muller, Françoise

Journal:

Pediatric Research

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

9

Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study

Alexandru, Mihaela, Courbebaisse, Marie, Le Pajolec, Christine, MÃ©nage, Adeline, Papon, Jean-FranÃ§ois, Vargas-Poussou, Rosa, Nevoux, JÃ©rÃ´me, Blanchard, Anne

Journal:

Journal of Clinical Medicine

Year:

2020

File:

PDF, 14.65 MB

2020

10

Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences

Vargas-Poussou, Rosa, Mansour-Hendili, Lamisse, Baron, Stéphanie, Bertocchio, Jean-Philippe, Travers, Caroline, Simian, Christophe, Treard, Cyrielle, Baudouin, Véronique, Beltran, Sonia, Broux, Franço

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

File:

PDF, 937 KB

2016

11

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

Andrini, Olga, Keck, Mathilde, Briones, Rodolfo, Lourdel, Stéphane, Vargas-Poussou, Rosa, Teulon, Jacques

Journal:

AJP: Renal Physiology

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

12

Caractéristiques phénotypiques de l’hypercalcémie hypocalciurie familiale de type 1 : à propos de 76 observations

Mouly, Céline, Lienhardt, Anne, Silve, Caroline, Vargas-Poussou, Rosa, Kuhn, Jean Marc, Brue, Thierry, Reznik, Yves, Tabarin, Antoine, Martin-Coignard, Dominique, Haymann, Jean-Philippe, Caron, Philip

Journal:

Annales d'Endocrinologie

Year:

2015

File:

PDF, 386 KB

2015

13

CLCNKBmutations causing mild Bartter syndrome profoundly alter the pH and Ca2+dependence of ClC-Kb channels

Andrini, Olga, Keck, Mathilde, L’Hoste, Sébastien, Briones, Rodolfo, Mansour-Hendili, Lamisse, Grand, Teddy, Sepúlveda, Francisco V., Blanchard, Anne, Lourdel, Stéphane, Vargas-Poussou, Rosa, Teulon,

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2014

Language:

english

File:

PDF, 453 KB

english, 2014

14

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

Hureaux, Marguerite, Molin, Arnaud, Jay, Nadine, Saliou, Anne Hélène, Spaggiari, Emmanuel, Salomon, Rémi, Benachi, Alexandra, Vargas-Poussou, Rosa, Heidet, Laurence

Journal:

Pediatric Nephrology

Year:

2018

Language:

english

File:

PDF, 1.99 MB

english, 2018

15

Désordres de la magnésémie

Anne Blanchard, Rosa Vargas-Poussou

Journal:

Néphrologie & Thérapeutique

Year:

2012

File:

PDF, 512 KB

2012

16

How Bartter’s and Gitelman’s Syndromes, and Dent’s Disease Have Provided Important Insights into the Function of Three Renal Chloride Channels: ClC-Ka/b and ClC-5

Briet, Marie, Vargas-Poussou, Rosa, Lourdel, Stephane, Houillier, Pascal, Blanchard, Anne

Journal:

Nephron Physiology

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

17

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families

Escobar, Laura I., Simian, Christopher, Treard, Cyrielle, Hayek, Donia, Salvador, Carolina, Guerra, Norma, Matos, Mario, Medeiros, Mara, Enciso, Sandra, Camargo, María Dolores, Vargas-Poussou, Rosa

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 1.02 MB

english, 2016

18

Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression

Keck, Mathilde, Andrini, Olga, Lahuna, Olivier, Burgos, Johanna, Cid, L. Pablo, Sepúlveda, Francisco V., L‘Hoste, Sébastien, Blanchard, Anne, Vargas-Poussou, Rosa, Lourdel, Stéphane, Teulon, Jacques

Journal:

Year:

2013

Language:

english

File:

PDF, 950 KB

english, 2013

19

Acidosis tubular renal distal en dos niñas diagnosticadas de hipotiroidismo adquirido

Guerra-Hernández, Norma E., Ordaz-López, Karen V., Vargas-Poussou, Rosa, Escobar-Pérez, Laura, García-Nieto, Víctor M.

Journal:

Year:

2018

File:

PDF, 803 KB

2018

20

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, Lisa Kelly, Lambertus P.W.J. van den Heuvel, Lamia Tebourbi, Matthias Brandis, Lothar Karolyi, Steven C. Hebert, Henny H. Lemmink

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 667 KB

english, 1998

21

Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement

Claverie-Martín, Félix, Vargas-Poussou, Rosa, Müller, Dominik, García-Nieto, Víctor

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

22

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone

Rachid, Myriam L., Dreux, Sophie, Pean de Ponfilly, Gauthier, Vargas-Poussou, Rosa, Czerkiewicz, Isabelle, Chevenne, Didier, Oury, Jean-François, Deschênes, Georges, Muller, Françoise

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 133 KB

english, 2016

23

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

J. Christopher Hennings, Nicolas Picard, Antje K. Huebner, Tobias Stauber, Hannes Maier, Dennis Brown, Thomas J. Jentsch, Rosa Vargas-Poussou, Dominique Eladari, Christian A. Hübner

Journal:

EMBO Molecular Medicine

Year:

2012

Language:

english

File:

PDF, 1.79 MB

english, 2012

24

Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay

Valdez-Flores, Marco A., Vargas-Poussou, Rosa, Verkaart, Sjoerd, Tutakhel, Omar A. Z., Valdez-Ortiz, Angel, Blanchard, Anne, Treard, Cyrielle, Hoenderop, Joost G. J., Bindels, René J. M., Jeleń, Sabin

Journal:

American journal of physiology. Renal physiology

Year:

2016

Language:

english

File:

PDF, 427 KB

english, 2016

25

Functional Characterization Of Clc-5 Mutations Associated With Dent's Disease

Grand, Teddy, Pennaforte, Thomas, Genete, Mathieu, Biyeyeme, Marie-Jeanne, Vargas-Poussou, Rosa, Blanchard, Anne, Teulon, Jacques, Lourdel, Stephane

Journal:

Biophysical Journal

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

26

Report of a family with two different hereditary diseases leading to early nephrocalcinosis

Rosa Vargas-Poussou, Pierre Cochat, Nelly Le Pottier, Isabelle Roncelin, Aurelia Liutkus, Anne Blanchard, Xavier Jeunemaître

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

27

Distal renal tubular acidosis in two children with acquired hypothyroidism

Guerra-Hernández, Norma E., Ordaz-López, Karen V., Vargas-Poussou, Rosa, Escobar-Pérez, Laura, García-Nieto, Víctor M.

Journal:

Nefrología (English Edition)

Year:

2018

File:

PDF, 705 KB

2018

28

QT Interval in Adult with Chronic Hypokalemia due to Gitelman Syndrome

Courand, Pierre-Yves, Marques, Pedro, Vargas-Poussou, Rosa, Azizi, Michel, Blanchard, Anne

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2020

File:

PDF, 513 KB

2020

29

Aldosterone-Related Myocardial Extracellular Matrix Expansion in Hypertension in Humans

Redheuil, Alban, Blanchard, Anne, Pereira, Helena, Raissouni, Zainab, Lorthioir, Aurelien, Soulat, Gilles, Vargas-Poussou, Rosa, Amar, Laurence, Paul, Jean-Louis, Helley, Dominique, Azizi, Michel, Kac

Journal:

Journal of the American College of Cardiology: Cardiovascular Imaging

Year:

2020

File:

PDF, 801 KB

2020

30

Novel CLCN5 mutations in patients with Dent’s disease result in altered ion currents or impaired exchanger processing

Grand, Teddy, Mordasini, David, L'Hoste, Sébastien, Pennaforte, Thomas, Genete, Mathieu, Biyeyeme, Marie-Jeanne, Vargas-Poussou, Rosa, Blanchard, Anne, Teulon, Jacques, Lourdel, Stéphane

Journal:

Kidney International

Year:

2009

Language:

english

File:

PDF, 566 KB

english, 2009

31

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients

Bertocchio, Jean-Philippe, Genetet, Sandrine, Da Costa, Lydie, Walsh, Stephen B., Knebelmann, Bertrand, Galimand, Julie, Bessenay, Lucie, Guitton, Corinne, De Lafaille, Renaud, Vargas-Poussou, Rosa, E

Journal:

Kidney International Reports

Year:

2020

File:

PDF, 1.56 MB

2020

32

Effect of Hydrochlorothiazide on Urinary Calcium Excretion in Dent Disease: An Uncontrolled Trial

Anne Blanchard, Rosa Vargas-Poussou, Severine Peyrard, Agnes Mogenet, Veronique Baudouin, Bernard Boudailliez, Marina Charbit, George Deschesnes, Nadia Ezzhair, Chantal Loirat, Marie-Alice Macher, Pat

Journal:

American Journal of Kidney Diseases

Year:

2008

Language:

english

File:

PDF, 1021 KB

english, 2008

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