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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: colussi g. 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: colussi g. Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30. Nephrol Dial Transplant. 2011. PMID: 20675610
Electrocardiogram with prolonged QT interval in Gitelman disease.
Bettinelli A, Tosetto C, Colussi G, Tommasini G, Edefonti A, Bianchetti MG. Bettinelli A, et al. Among authors: colussi g. Kidney Int. 2002 Aug;62(2):580-4. doi: 10.1046/j.1523-1755.2002.00467.x. Kidney Int. 2002. PMID: 12110021 Free article.
Aldosterone influences serum magnesium in Gitelman syndrome.
Bettinelli A, Consonni D, Bianchetti MG, Colussi G, Casari G. Bettinelli A, et al. Among authors: colussi 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. 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: colussi 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
254 results