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Page 1
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Hernández NEG, Pérez LIE, Aguilera D, Camargo-Muñiz MD, Espinosa CFC, Jaramillo MCR, Salvador C, González ZL, Hureaux M, Vargas-Poussou R. Hernández NEG, et al. Among authors: vargas poussou r. Arch Med Res. 2023 Sep;54(6):102859. doi: 10.1016/j.arcmed.2023.102859. Epub 2023 Jul 27. Arch Med Res. 2023. PMID: 37516009
The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.
Syrén ML, Borsa Ghiringhelli N, Bettinelli A, Colussi G, Vargas-Poussou R, Tammaro F, Coviello DA, Tedeschi S; Italian Collaborative Group for Gitelman Syndrome. Syrén ML, et al. Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30. Nephrol Dial Transplant. 2011. PMID: 20675610
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?
Nozières C, Zhang CX, Buffet A, Dupasquier S, Vargas-Poussou R, Guillaud-Bataille M, Cordier-Bussat M, Ruszniewski P, Christin-Maitre S, Murat A, Groussin L, Vezzosi D, Cardot-Bauters C, Hervieu V, Joly MO, Giraud S, Odou MF, Gimenez-Roqueplo AP, Goudet P, Borson-Chazot F, Calender A; Groupe français des tumeurs endocrines (GTE). Nozières C, et al. Ann Endocrinol (Paris). 2014 Jul;75(3):133-40. doi: 10.1016/j.ando.2014.05.003. Epub 2014 Jul 2. Ann Endocrinol (Paris). 2014. PMID: 24997771
[Molecular aspects of renal tubule diseases].
Vargas-Poussou R. Vargas-Poussou R. Arch Pediatr. 2002 May;9 Suppl 2:163s-166s. doi: 10.1016/s0929-693x(01)00885-5. Arch Pediatr. 2002. PMID: 12108255 Review. French. No abstract available.
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
Distal renal tubular acidosis and ovalocytosis: a case report.
Jamard B, Allard J, Caron P, Corberand JX, Blanchard A, Vargas-Poussou R, El Mahou S, Constantin A, Cantagrel A, Mazières B, Laroche M. Jamard B, et al. Osteoporos Int. 2008 Jan;19(1):119-22. doi: 10.1007/s00198-007-0419-8. Epub 2007 Aug 10. Osteoporos Int. 2008. PMID: 17690931
103 results