Found: 6

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  • A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.

    Published in:
    Nefrologia, 2017, v. 37, n. 4, p. 423, doi. 10.1016/j.nefro.2017.01.007
    By:
    • Gil-Peña, Helena;
    • Coto, Eliecer;
    • Santos, Fernando;
    • Espino, Mar;
    • Crespo, Jose Ma Cea;
    • Chantzopoulos, Giannis;
    • Komianou, Filadelfia;
    • Gómez, Juan;
    • Alonso, Belén;
    • Iglesias, Sara;
    • Treard, Cyrielle;
    • Vargas-Poussou, Rosa
    Publication type:
    Article

  • Signification of distal urinary acidification defects in hypocitraturic patients.

    Published in:
    PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177329
    By:
    • 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
    Publication type:
    Article

  • PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 10, p. 1, doi. 10.1371/journal.pgen.1006367
    By:
    • Kiando, Soto Romuald;
    • Tucker, Nathan R.;
    • Castro-Vega, Luis-Jaime;
    • Katz, Alexander;
    • D'Escamard, Valentina;
    • Tréard, Cyrielle;
    • Fraher, Daniel;
    • Albuisson, Juliette;
    • Kadian-Dodov, Daniella;
    • Zi Ye;
    • Austin, Erin;
    • Min-Lee Yang;
    • Hunker, Kristina;
    • Barlassina, Cristina;
    • Cusi, Daniele;
    • Galan, Pilar;
    • Empana, Jean-Philippe;
    • Jouven, Xavier;
    • Gimenez-Roqueplo, Anne-Paule;
    • Bruneval, Patrick
    Publication type:
    Article

  • Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2016, v. 101, n. 5, p. 2185, doi. 10.1210/jc.2015-3442
    By:
    • Vargas-Poussou, Rosa;
    • Mansour-Hendili, Lamisse;
    • Baron, Stéphanie;
    • Bertocchio, Jean-Philippe;
    • Travers, Caroline;
    • Simian, Christophe;
    • Treard, Cyrielle;
    • Baudouin, Véronique;
    • Beltran, Sonia;
    • Broux, Françoise;
    • Camard, Odile;
    • Cloarec, Sylvie;
    • Cormier, Catherine;
    • Debussche, Xavier;
    • Dubosclard, Emmanuelle;
    • Eid, Celine;
    • Haymann, Jean-Philippe;
    • Kiando, Soto Romuald;
    • Kuhn, Jean-Marc;
    • Lefort, Guy
    Publication type:
    Article

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

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 303, doi. 10.1002/mgg3.205
    By:
    • 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
    Publication type:
    Article

  • Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

    Published in:
    Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804
    By:
    • Mansour‐Hendili, Lamisse;
    • Blanchard, Anne;
    • Pottier, Nelly;
    • Roncelin, Isabelle;
    • Lourdel, Stéphane;
    • Treard, Cyrielle;
    • González, Wendy;
    • Vergara‐Jaque, Ariela;
    • Morin, Gilles;
    • Colin, Estelle;
    • Holder‐Espinasse, Muriel;
    • Bacchetta, Justine;
    • Baudouin, Véronique;
    • Benoit, Stéphane;
    • Bérard, Etienne;
    • Bourdat‐Michel, Guylhène;
    • Bouchireb, Karim;
    • Burtey, Stéphane;
    • Cailliez, Mathilde;
    • Cardon, Gérard
    Publication type:
    Article