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Items: 1 to 20 of 155

1.

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.

Lo YF, Nozu K, Iijima K, Morishita T, Huang CC, Yang SS, Sytwu HK, Fang YW, Tseng MH, Lin SH.

Clin J Am Soc Nephrol. 2011 Mar;6(3):630-9. doi: 10.2215/CJN.06730810. Epub 2010 Nov 4.

2.

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

Tseng MH, Yang SS, Hsu YJ, Fang YW, Wu CJ, Tsai JD, Hwang DY, Lin SH.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1478-82. doi: 10.1210/jc.2012-1707. Epub 2012 Jun 7.

PMID:
22679066
3.

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.

Riveira-Munoz E, Devuyst O, Belge H, Jeck N, Strompf L, Vargas-Poussou R, Jeunemaître X, Blanchard A, Knoers NV, Konrad M, Dahan K.

Nephrol Dial Transplant. 2008 Oct;23(10):3120-5. doi: 10.1093/ndt/gfn229. Epub 2008 May 9.

PMID:
18469313
4.

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.

Nozu K, Iijima K, Nozu Y, Ikegami E, Imai T, Fu XJ, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M.

Pediatr Res. 2009 Nov;66(5):590-3. doi: 10.1203/PDR.0b013e3181b9b4d3.

PMID:
19668106
5.

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

Fava C, Montagnana M, Rosberg L, Burri P, Jönsson A, Wanby P, Wahrenberg H, Hulthén UL, Aurell M, Guidi GC, Melander O.

DNA Seq. 2007 Oct;18(5):395-9.

PMID:
17654016
6.

Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.

Joo KW, Lee JW, Jang HR, Heo NJ, Jeon US, Oh YK, Lim CS, Na KY, Kim J, Cheong HI, Han JS.

Am J Kidney Dis. 2007 Nov;50(5):765-73.

PMID:
17954289
7.

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O; Belgian Network for Study of Gitelman Syndrome.

J Am Soc Nephrol. 2007 Apr;18(4):1271-83. Epub 2007 Feb 28.

8.

Gitelman's syndrome: report of one case.

Chan CF, Mu SC, Lau BH, Chang CJ, Lin SH.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):31-4.

PMID:
18581727
9.

Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

Yang SS, Lo YF, Yu IS, Lin SW, Chang TH, Hsu YJ, Chao TK, Sytwu HK, Uchida S, Sasaki S, Lin SH.

Hum Mutat. 2010 Dec;31(12):1304-15. doi: 10.1002/humu.21364. Epub 2010 Oct 14.

PMID:
20848653
10.

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome.

Aoki K, Tajima T, Yabushita Y, Nakamura A, Nezu U, Takahashi M, Kimura M, Terauchi Y.

Endocr J. 2008 Jul;55(3):557-60. Epub 2008 Jun 3.

11.

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.

Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30.

PMID:
20675610
12.

Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation.

Coto E, Arriba G, García-Castro M, Santos F, Corao AI, Díaz M, Sánchez Heras M, Basterrechea MA, Tallón S, Alvarez V.

Am J Nephrol. 2009;30(3):218-21. doi: 10.1159/000218104. Epub 2009 May 7.

PMID:
19420906
13.
14.

Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, Nakane C, Mano H, Kawachi H, Sato N, Soma M, Matsumoto K.

Endocrine. 2007 Apr;31(2):149-53.

PMID:
17873326
15.

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.

Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19.

16.

Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.

Hsu YJ, Yang SS, Chu NF, Sytwu HK, Cheng CJ, Lin SH.

Nephrol Dial Transplant. 2009 Apr;24(4):1170-5. doi: 10.1093/ndt/gfn619. Epub 2008 Nov 25.

PMID:
19033254
17.

A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.

Shao L, Liu L, Miao Z, Ren H, Wang W, Lang Y, Yue S, Chen N.

Am J Nephrol. 2008;28(6):900-7. doi: 10.1159/000141932. Epub 2008 Jun 26.

PMID:
18580052
18.

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.

Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, Matsuo M.

Pediatr Res. 2007 Apr;61(4):502-5.

PMID:
17414160
19.

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O.

Pediatr Nephrol. 2007 Mar;22(3):326-32. Epub 2006 Oct 24. Review.

PMID:
17061123
20.

Gitelman's syndrome: a pathophysiological and clinical update.

Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D.

Endocrine. 2012 Feb;41(1):53-7. doi: 10.1007/s12020-011-9556-0. Epub 2011 Nov 15. Review.

PMID:
22169961

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