Syrèn ML - Search Results

1

Renal phosphate handling in Gitelman syndrome--the results of a case-control study.

Viganò C, Amoruso C, Barretta F, Minnici G, Albisetti W, Syrèn ML, Bianchetti MG, Bettinelli A. Viganò C, et al. Among authors: syren ml. Pediatr Nephrol. 2013 Jan;28(1):65-70. doi: 10.1007/s00467-012-2297-3. Epub 2012 Sep 19. Pediatr Nephrol. 2013. PMID: 22990302

2

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: syren ml. Pediatr Nephrol. 2010 Oct;25(10):2179-82. doi: 10.1007/s00467-010-1575-1. Epub 2010 Jun 16. Pediatr Nephrol. 2010. PMID: 20552229

3

Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease.

Malafronte C, Borsa N, Tedeschi S, Syrèn ML, Stucchi S, Bianchetti MG, Achilli F, Bettinelli A. Malafronte C, et al. Among authors: syren ml. Pediatr Nephrol. 2004 Dec;19(12):1413-5. doi: 10.1007/s00467-004-1611-0. Pediatr Nephrol. 2004. PMID: 15338397

4

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

Bettinelli A, Borsa N, Syrén ML, Mattiello C, Coviello D, Edefonti A, Giani M, Travi M, Tedeschi S. Bettinelli A, et al. Among authors: syren ml. Pediatr Res. 2005 Dec;58(6):1269-73. doi: 10.1203/01.pdr.0000185267.95466.41. Pediatr Res. 2005. PMID: 16306206

5

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: syren ml. Nephrol Dial Transplant. 2015 Apr;30(4):621-30. doi: 10.1093/ndt/gfu362. Epub 2014 Nov 23. Nephrol Dial Transplant. 2015. PMID: 25422309

6

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. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667

7

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

8

Living with Gitelman disease: an insight into patients' daily experiences.

Caiata-Zufferey M, Zanini CA, Schulz PJ, Syrén ML, Bianchetti MG, Bettinelli A. Caiata-Zufferey M, et al. Among authors: syren ml. Nephrol Dial Transplant. 2012 Aug;27(8):3196-201. doi: 10.1093/ndt/gfs017. Epub 2012 Feb 14. Nephrol Dial Transplant. 2012. PMID: 22334612

9

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: syren ml. 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

10

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: syren ml. Pediatr Nephrol. 2000 Sep;14(10-11):940-5. doi: 10.1007/pl00013418. Pediatr Nephrol. 2000. PMID: 10975303

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