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103 results

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Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A. Vargas-Poussou R, et al. J Am Soc Nephrol. 2006 May;17(5):1437-43. doi: 10.1681/ASN.2005121305. Epub 2006 Apr 12. J Am Soc Nephrol. 2006. PMID: 16611712
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mansour-Hendili L, et al. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R. Legrand A, et al. Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2018. PMID: 29146702 Free PMC article.
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
Blanchard A, Vallet M, Dubourg L, Hureaux M, Allard J, Haymann JP, de la Faille R, Arnoux A, Dinut A, Bergerot D, Becker PH, Courand PY, Baron S, Houillier P, Tack I, Devuyst O, Jeunemaitre X, Azizi M, Vargas-Poussou R. Blanchard A, et al. J Am Soc Nephrol. 2019 Aug;30(8):1534-1545. doi: 10.1681/ASN.2019010031. Epub 2019 Jul 8. J Am Soc Nephrol. 2019. PMID: 31285285 Free PMC article.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C, Vargas-Poussou R, Lienhardt A, Silve C, Hureaux M, Magdelaine C, Buffet A, Grunenwald S, Kuhn JM, Brue T, Reznik Y, Tabarin A, Martin-Coignard D, Haymann JP, Tack I, Bennet A, Caron P, Linglart A, Vezzosi D; Reference Centre for Rare Diseases of Calcium, Phosphate Metabolism. Mouly C, et al. Clin Endocrinol (Oxf). 2020 Sep;93(3):248-260. doi: 10.1111/cen.14211. Epub 2020 May 14. Clin Endocrinol (Oxf). 2020. PMID: 32347971
103 results