Tosetto E - Search Results

1

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.

Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F. Tosetto E, et al. Pediatr Nephrol. 2009 Oct;24(10):1967-73. doi: 10.1007/s00467-009-1228-4. Epub 2009 Jul 7. Pediatr Nephrol. 2009. PMID: 19582483

2

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D'angelo A, Anglani F. Tosetto E, et al. Nephrol Dial Transplant. 2006 Sep;21(9):2452-63. doi: 10.1093/ndt/gfl274. Epub 2006 Jul 5. Nephrol Dial Transplant. 2006. PMID: 16822791

3

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F. Addis M, et al. Among authors: tosetto e. Eur J Hum Genet. 2013 Jun;21(6):687-90. doi: 10.1038/ejhg.2012.225. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047739 Free PMC article.

4

[Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes].

Tosetto E, Anglani F, Graziotto R, Citron L, D'Angelo A, Gambaro G. Tosetto E, et al. G Ital Nefrol. 2003 Nov-Dec;20(6):578-88. G Ital Nefrol. 2003. PMID: 14732909 Review. Italian.

5

Family history may be misleading in the diagnosis of Dent's disease.

Anglani F, Bernich P, Tosetto E, Cara M, Lupo A, Nalesso F, D'Angelo A, Gambaro G. Anglani F, et al. Among authors: tosetto e. Urol Res. 2006 Feb;34(1):61-3. doi: 10.1007/s00240-005-0005-5. Epub 2006 Jan 14. Urol Res. 2006. PMID: 16416111

6

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.

Forino M, Graziotto R, Tosetto E, Gambaro G, D'Angelo A, Anglani F. Forino M, et al. Among authors: tosetto e. J Hum Genet. 2004;49(1):53-60. doi: 10.1007/s10038-003-0108-1. Epub 2003 Dec 13. J Hum Genet. 2004. PMID: 14673707

7

Crystals, Randall's plaques and renal stones: do bone and atherosclerosis teach us something?

Gambaro G, D'Angelo A, Fabris A, Tosetto E, Anglani F, Lupo A. Gambaro G, et al. Among authors: tosetto e. J Nephrol. 2004 Nov-Dec;17(6):774-7. J Nephrol. 2004. PMID: 15593050 Review.

8

Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

Tosetto E, Graziotto R, Artifoni L, Nachtigal J, Cascone C, Conz P, Piva M, Dell'Aquila R, De Paoli Vitali E, Citron L, Nalesso F, Antonello A, Vertolli U, Zagatti R, Lupo A, D'Angelo A, Anglani F, Gambaro G. Tosetto E, et al. J Hum Genet. 2006;51(1):25-30. doi: 10.1007/s10038-005-0317-x. Epub 2005 Oct 25. J Hum Genet. 2006. PMID: 16247550

9

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.

Anglani F, D'Angelo A, Bertizzolo LM, Tosetto E, Ceol M, Cremasco D, Bonfante L, Addis MA, Del Prete D; Dent Disease Italian Network. Anglani F, et al. Among authors: tosetto e. Springerplus. 2015 Sep 15;4:492. doi: 10.1186/s40064-015-1294-y. eCollection 2015. Springerplus. 2015. PMID: 26389017 Free PMC article.

10

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.

Tosetto E, Ceol M, Mezzabotta F, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Giordano M, Glorioso N, Degortes S, Soldati L, Sayer J, D'Angelo A, Anglani F. Tosetto E, et al. Clin Genet. 2009 Oct;76(4):413-6. doi: 10.1111/j.1399-0004.2009.01212.x. Epub 2009 Aug 10. Clin Genet. 2009. PMID: 19673950 No abstract available.

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