12112667 21415153 22009145 23328711 25422309 12039972[uid] - Search Results

Year	Number of Results
2002	2
2011	2
2012	1
2013	1
2014	1
2015	1
2024	0

1

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

2

Spectrum of mutations in Gitelman syndrome.

Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X. Vargas-Poussou R, et al. J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17. J Am Soc Nephrol. 2011. PMID: 21415153 Free PMC article.

3

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH. Glaudemans B, et al. Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19. Eur J Hum Genet. 2012. PMID: 22009145 Free PMC article.

4

Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements.

Berry MR, Robinson C, Karet Frankl FE. Berry MR, et al. Nephrol Dial Transplant. 2013 Jun;28(6):1533-42. doi: 10.1093/ndt/gfs600. Epub 2013 Jan 17. Nephrol Dial Transplant. 2013. PMID: 23328711 Free PMC article.

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. 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

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.

De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ. De Jong JC, et al. J Am Soc Nephrol. 2002 Jun;13(6):1442-8. doi: 10.1097/01.asn.0000017904.77985.03. J Am Soc Nephrol. 2002. PMID: 12039972

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