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Items: 1 to 20 of 47

1.

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP.

Nat Genet. 1996 Jan;12(1):24-30.

PMID:
8528245
2.

The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes.

Simon DB, Lifton RP.

Am J Physiol. 1996 Nov;271(5 Pt 2):F961-6. Review.

PMID:
8945989
3.

[Renal sodium transport abnormality: Gitelman's syndrome and renal sodium transporter].

Takeuchi K, Taniyama Y, Ito S, Yasujima M.

Rinsho Byori. 1999 Dec;47(12):1128-33. Review. Japanese.

PMID:
10639822
4.

Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases.

Favero M, Calò LA, Schiavon F, Punzi L.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):637-48. doi: 10.1016/j.berh.2011.10.013. Review.

PMID:
22142744
5.

Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes.

Simon DB, Lifton RP.

Curr Opin Cell Biol. 1998 Aug;10(4):450-4. Review.

PMID:
9719864
6.

[From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome].

Cornelissen EA, Bindels RJ, Hoefsloot LH, Knoers NV.

Ned Tijdschr Geneeskd. 2005 Jun 11;149(24):1330-3. Review. Dutch.

PMID:
16008036
7.

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Reissinger A, Ludwig M, Utsch B, Prömse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D.

Kidney Blood Press Res. 2002;25(6):354-62. Review.

8.

Molecular pathophysiology of Bartter's and Gitelman's syndromes.

Koulouridis E, Koulouridis I.

World J Pediatr. 2015 May;11(2):113-25. doi: 10.1007/s12519-015-0016-4. Epub 2015 Mar 9. Review.

PMID:
25754753
9.

The molecular genetic approach to "Bartter's syndrome".

Károlyi L, Koch MC, Grzeschik KH, Seyberth HW.

J Mol Med (Berl). 1998 Apr;76(5):317-25. Review.

PMID:
9587066
10.

The molecular physiology of electroneutral cation-chloride cotransport.

Mount DB, Hoover RS, Hebert SC.

J Membr Biol. 1997 Aug 1;158(3):177-86. Review.

PMID:
9263880
11.

Chloride channels in renal disease.

Thakker RV.

Adv Nephrol Necker Hosp. 1999;29:289-98. Review.

PMID:
10561751
12.

[Bartter's syndrome and Gitelman's syndrome: Pathogenesis, pathophysiology, and therapy].

Watanabe S, Uchida S.

Nihon Rinsho. 2006 Feb;64 Suppl 2:504-7. Review. Japanese.

PMID:
16523943
13.
14.

Ion transporter mutations in Gitelman's and Bartter's syndromes.

Simon DB, Lifton RP.

Curr Opin Nephrol Hypertens. 1998 Jan;7(1):43-7. Review.

PMID:
9442362
15.

Mutations in renal ion transporters cause Gitelman's and Bartter's syndromes of inherited hypokalemic alkalosis.

Simon DB, Lifton RP.

Adv Nephrol Necker Hosp. 1997;27:343-59. Review. No abstract available.

PMID:
9408455
16.

Bartter's and Gitelman's syndromes: from gene to clinic.

Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D.

Nephron Physiol. 2004;96(3):p65-78. Review.

PMID:
15056980
17.

Molecular pathogenesis of Bartter's and Gitelman's syndromes.

Kurtz I.

Kidney Int. 1998 Oct;54(4):1396-410. Review. No abstract available.

18.
19.

Regulation of the renal Na/K/2Cl cotransporter gene. Physiological modulation in health and abnormal function in disease.

Nonoguchi H, Itoh K, Ikebe M, Tomita K.

Exp Nephrol. 1998 Jul-Aug;6(4):272-6. Review.

PMID:
9690088
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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