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Items: 1 to 20 of 141

1.

Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.

Balavoine AS, Bataille P, Vanhille P, Azar R, Noël C, Asseman P, Soudan B, Wémeau JL, Vantyghem MC.

Eur J Endocrinol. 2011 Oct;165(4):665-73. doi: 10.1530/EJE-11-0224. Epub 2011 Jul 13.

2.

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Lee JW, Lee J, Heo NJ, Cheong HI, Han JS.

J Korean Med Sci. 2016 Jan;31(1):47-54. doi: 10.3346/jkms.2016.31.1.47. Epub 2015 Dec 24. Erratum in: J Korean Med Sci. 2016 May;31(5):827.

3.

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
4.

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.

Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F.

Kidney Int. 2004 Jan;65(1):25-9.

5.

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.

Qin L, Shao L, Ren H, Wang W, Pan X, Zhang W, Wang Z, Shen P, Chen N.

Nephrology (Carlton). 2009 Feb;14(1):52-8. doi: 10.1111/j.1440-1797.2008.01042.x. Epub 2009 Jan 21.

PMID:
19207868
6.

Eplerenone improved hypokalemia in a patient with Gitelman's syndrome.

Ito Y, Yoshida M, Nakayama M, Tsutaya S, Ogawa K, Maeda H, Miyata M, Oiso Y.

Intern Med. 2012;51(1):83-6. Epub 2012 Jan 1.

7.

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
8.

Gitelman syndrome as a cause of psychomotor retardation in a toddler.

Skalova S, Neuman D, Lnenicka P, Stekrova J.

Arab J Nephrol Transplant. 2013 Jan;6(1):37-9.

PMID:
23282232
9.

Gitelman syndrome.

Knoers NV, Levtchenko EN.

Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Review.

10.

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.

J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17.

11.

[An asymptomatic chronic hypokalaemia].

Otto MP, Cheminel V, Crevon L, Dubourg L, Hadj-Aissa A, Mounier C, Prevosto JM.

Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):459-64. doi: 10.1684/abc.2011.0597. French.

12.

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

Berry MR, Robinson C, Karet Frankl FE.

Nephrol Dial Transplant. 2013 Jun;28(6):1533-42. doi: 10.1093/ndt/gfs600. Epub 2013 Jan 17.

13.
14.

A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.

Godefroid N, Riveira-Munoz E, Saint-Martin C, Nassogne MC, Dahan K, Devuyst O.

Am J Kidney Dis. 2006 Nov;48(5):e73-9.

PMID:
17059986
15.

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
16.

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.

17.

Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.

Nakamura A, Shimizu C, Nagai S, Yoshida M, Aoki K, Kondo T, Miyoshi H, Wada N, Tajima T, Terauchi Y, Yoshioka N, Koike T.

Clin Endocrinol (Oxf). 2010 Feb;72(2):272-6. doi: 10.1111/j.1365-2265.2009.03649.x. Epub 2009 Jun 8.

PMID:
19508680
18.

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.

19.

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.

Lü Q, Zhang Y, Song C, An Z, Wei S, Huang J, Huang L, Tang L, Tong N.

J Endocrinol Invest. 2016 Mar;39(3):333-40. doi: 10.1007/s40618-015-0371-y. Epub 2015 Aug 11. Review.

PMID:
26260218
20.

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

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