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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: casari g. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667
Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?
Bettinelli A, Rusconi R, Ciarmatori S, Righini V, Zammarchi E, Donati MA, Isimbaldi C, Bevilacqua M, Cesareo L, Tedeschi S, Garavaglia R, Casari G. Bettinelli A, et al. Among authors: casari g. Pediatr Res. 1999 Aug;46(2):232-8. doi: 10.1203/00006450-199908000-00017. Pediatr Res. 1999. PMID: 10447120
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. Among authors: casari g. Pediatr Nephrol. 2000 Sep;14(10-11):940-5. doi: 10.1007/pl00013418. Pediatr Nephrol. 2000. PMID: 10975303
Aldosterone influences serum magnesium in Gitelman syndrome.
Bettinelli A, Consonni D, Bianchetti MG, Colussi G, Casari G. Bettinelli A, et al. Among authors: casari g. Nephron. 2000 Oct;86(2):236. doi: 10.1159/000045767. Nephron. 2000. PMID: 11015018 No abstract available.
A thiazide test for the diagnosis of renal tubular hypokalemic disorders.
Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syrén ML, Borsa N, Mattiello C, Casari G, Bianchetti MG. Colussi G, et al. Among authors: casari g. Clin J Am Soc Nephrol. 2007 May;2(3):454-60. doi: 10.2215/CJN.02950906. Epub 2007 Mar 14. Clin J Am Soc Nephrol. 2007. PMID: 17699451
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Rampoldi L, et al. Among authors: casari g. Hum Mol Genet. 2003 Dec 15;12(24):3369-84. doi: 10.1093/hmg/ddg353. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570709
235 results