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

ανά Claverie-Martín, Félix, Vargas-Poussou, Rosa, Müller, Dominik, García-Nieto, Víctor
Τόπος έκδοσης Eur J Hum Genet (2015)

QT Interval in Adult with Chronic Hypokalemia due to Gitelman Syndrome: Not so Frequently Prolonged

ανά Courand, Pierre-Yves, Marques, Pedro, Vargas-Poussou, Rosa, Azizi, Michel, Blanchard, Anne
Τόπος έκδοσης Clin J Am Soc Nephrol (2020)

Localization of Tubular Adaptation to Renal Sodium Loss in Gitelman Syndrome

ανά Favre, Guillaume Alexandre, Nau, Valérie, Kolb, Isabelle, Vargas-Poussou, Rosa, Hannedouche, Thierry, Moulin, Bruno
Έκδοση 2012

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

ανά Faguer, Stanislas, Chauveau, Dominique, Cintas, Pascal, Tack, Ivan, Cointault, Olivier, Rostaing, Lionel, Vargas-Poussou, Rosa, Ribes, David
Έκδοση 2011

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

ανά Bertulli, Cristina, Hureaux, Marguerite, De Mutiis, Chiara, Pasini, Andrea, Bockenhauer, Detlef, Vargas-Poussou, Rosa, La Scola, Claudio
Τόπος έκδοσης Children (Basel) (2020)

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

ανά Alexandru, Mihaela, Courbebaisse, Marie, Le Pajolec, Christine, Ménage, Adeline, Papon, Jean-François, Vargas-Poussou, Rosa, Nevoux, Jérôme, Blanchard, Anne
Τόπος έκδοσης J Clin Med (2020)

A pseudo-dominant form of Gitelman’s syndrome

ανά de La Faille, Renaud, Vallet, Marion, Venisse, Annabelle, Nau, Valérie, Collet-Gaudillat, Carole, Houillier, Pascal, Jeunemaitre, Xavier, Vargas-Poussou, Rosa
Τόπος έκδοσης NDT Plus (2011)

Fetal urine biochemistry in antenatal Bartter syndrome: a case report

ανά Rachid, Myriam L., Dreux, Sophie, Czerkiewicz, Isabelle, Deschênes, Georges, Vargas‐Poussou, Rosa, Mahieu‐Caputo, Dominique, Oury, Jean‐François, Muller, Françoise
Τόπος έκδοσης Clin Case Rep (2016)

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

ανά Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Τόπος έκδοσης Mol Cytogenet (2021)

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

ανά Hennings, J Christopher, Picard, Nicolas, Huebner, Antje K, Stauber, Tobias, Maier, Hannes, Brown, Dennis, Jentsch, Thomas J, Vargas-Poussou, Rosa, Eladari, Dominique, Hübner, Christian A
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2016)

Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome

ανά Blanchard, Anne, Vargas-Poussou, Rosa, Vallet, Marion, Caumont-Prim, Aurore, Allard, Julien, Desport, Estelle, Dubourg, Laurence, Monge, Matthieu, Bergerot, Damien, Baron, Stéphanie, Essig, Marie, Bridoux, Frank, Tack, Ivan, Azizi, Michel
Τόπος έκδοσης J Am Soc Nephrol (2015)

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

ανά 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, Eladari, Dominique, Mouro-Chanteloup, Isabelle
Τόπος έκδοσης Kidney Int Rep (2020)

Signification of distal urinary acidification defects in hypocitraturic patients

ανά Forni Ogna, Valentina, Blanchard, Anne, Vargas-Poussou, Rosa, Ogna, Adam, Baron, Stéphanie, Bertocchio, Jean-Philippe, Prot-Bertoye, Caroline, Nevoux, Jérôme, Dubourg, Julie, Maruani, Gérard, Mendes, Margarida, Garcia-Castaño, Alejandro, Treard, Cyrielle, Lepottier, Nelly, Houillier, Pascal, Courbebaisse, Marie
Τόπος έκδοσης PLoS One (2017)

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype–Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations

ανά Godron, Astrid, Harambat, Jérôme, Boccio, Valérie, Mensire, Anne, May, Adrien, Rigothier, Claire, Couzi, Lionel, Barrou, Benoit, Godin, Michel, Chauveau, Dominique, Faguer, Stanislas, Vallet, Marion, Cochat, Pierre, Eckart, Philippe, Guest, Geneviève, Guigonis, Vincent, Houillier, Pascal, Blanchard, Anne, Jeunemaitre, Xavier, Vargas-Poussou, Rosa
Έκδοση 2012

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

ανά Blanchard, Anne, Vallet, Marion, Dubourg, Laurence, Hureaux, Marguerite, Allard, Julien, Haymann, Jean-Philippe, de la Faille, Renaud, Arnoux, Armelle, Dinut, Aurelie, Bergerot, Damien, Becker, Pierre-Hadrien, Courand, Pierre-Yves, Baron, Stéphanie, Houillier, Pascal, Tack, Ivan, Devuyst, Olivier, Jeunemaitre, Xavier, Azizi, Michel, Vargas-Poussou, Rosa
Τόπος έκδοσης J Am Soc Nephrol (2019)

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

ανά Legrand, Anne, Treard, Cyrielle, Roncelin, Isabelle, Dreux, Sophie, Bertholet-Thomas, Aurélia, Broux, Françoise, Bruno, Daniele, Decramer, Stéphane, Deschenes, Georges, Djeddi, Djamal, Guigonis, Vincent, Jay, Nadine, Khalifeh, Tackwa, Llanas, Brigitte, Morin, Denis, Morin, Gilles, Nobili, François, Pietrement, Christine, Ryckewaert, Amélie, Salomon, Rémi, Vrillon, Isabelle, Blanchard, Anne, Vargas-Poussou, Rosa
Τόπος έκδοσης Clin J Am Soc Nephrol (2018)

Spectrum of Mutations in Gitelman Syndrome

ανά Vargas-Poussou, Rosa, Dahan, Karin, Kahila, Diana, Venisse, Annabelle, Riveira-Munoz, Eva, Debaix, Huguette, Grisart, Bernard, Bridoux, Franck, Unwin, Robert, Moulin, Bruno, Haymann, Jean-Philippe, Vantyghem, Marie-Christine, Rigothier, Claire, Dussol, Bertrand, Godin, Michel, Nivet, Hubert, Dubourg, Laurence, Tack, Ivan, Gimenez-Roqueplo, Anne-Paule, Houillier, Pascal, Blanchard, Anne, Devuyst, Olivier, Jeunemaitre, Xavier
Έκδοση 2011

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

ανά Louis-Dit-Picard, Hélène, Kouranti, Ilektra, Rafael, Chloé, Loisel-Ferreira, Irmine, Chavez-Canales, Maria, Abdel-Khalek, Waed, Argaiz, Eduardo R., Baron, Stéphanie, Vacle, Sarah, Migeon, Tiffany, Coleman, Richard, Do Cruzeiro, Marcio, Hureaux, Marguerite, Thurairajasingam, Nirubiah, Decramer, Stéphane, Girerd, Xavier, O’Shaugnessy, Kevin, Mulatero, Paolo, Roussey, Gwenaëlle, Tack, Ivan, Unwin, Robert, Vargas-Poussou, Rosa, Staub, Olivier, Grimm, Richard, Welling, Paul A., Gamba, Gerardo, Clauser, Eric, Hadchouel, Juliette, Jeunemaitre, Xavier
Τόπος έκδοσης J Clin Invest (2020)

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

ανά Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan, Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer, Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F., Weber, Stefanie, Palygin, Oleg, Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard, Zdebik, Anselm A., Konrad, Martin
Τόπος έκδοσης J Am Soc Nephrol (2021)