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Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A. Syrén ML, et al. Among authors: bettinelli a. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667
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. Among authors: bettinelli a. Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30. Nephrol Dial Transplant. 2011. PMID: 20675610
Early appearance of hypokalemia in Gitelman syndrome.
Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML, Tedeschi S, Bianchetti MG. Tammaro F, et al. Among authors: bettinelli a. Pediatr Nephrol. 2010 Oct;25(10):2179-82. doi: 10.1007/s00467-010-1575-1. Epub 2010 Jun 16. Pediatr Nephrol. 2010. PMID: 20552229
Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.
Corbetta S, Raimondo F, Tedeschi S, Syrèn ML, Rebora P, Savoia A, Baldi L, Bettinelli A, Pitto M. Corbetta S, et al. Among authors: bettinelli a. Nephrol Dial Transplant. 2015 Apr;30(4):621-30. doi: 10.1093/ndt/gfu362. Epub 2014 Nov 23. Nephrol Dial Transplant. 2015. PMID: 25422309
Phenotypic variability in Bartter syndrome type I.
Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani AC, Rosini A, Grumieri G, Mercuri B, Sacco M, Leozappa G, Binda S, Cecconi M, Navone C, Curcio C, Syren ML, Casari G. Bettinelli A, et al. Pediatr Nephrol. 2000 Sep;14(10-11):940-5. doi: 10.1007/pl00013418. Pediatr Nephrol. 2000. PMID: 10975303
125 results