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Items: 1 to 20 of 109

1.

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

Bongers EMHF, Shelton LM, Milatz S, Verkaart S, Bech AP, Schoots J, Cornelissen EAM, Bleich M, Hoenderop JGJ, Wetzels JFM, Lugtenberg D, Nijenhuis T.

J Am Soc Nephrol. 2017 Oct;28(10):3118-3128. doi: 10.1681/ASN.2016080881. Epub 2017 Jul 3.

2.

Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis.

Breiderhoff T, Himmerkus N, Stuiver M, Mutig K, Will C, Meij IC, Bachmann S, Bleich M, Willnow TE, Müller D.

Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14241-6. doi: 10.1073/pnas.1203834109. Epub 2012 Aug 13. Erratum in: Proc Natl Acad Sci U S A. 2012 Sep 11;109(37):15072.

3.

Gitelman syndrome: pathophysiological and clinical aspects.

Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C.

QJM. 2010 Oct;103(10):741-8. doi: 10.1093/qjmed/hcq123. Epub 2010 Jul 22. Review.

PMID:
20650971
4.

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.

Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW.

Pediatr Res. 2000 Dec;48(6):754-8.

PMID:
11102542
5.

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M.

Pediatrics. 2001 Jul;108(1):E5.

PMID:
11433084
6.
7.

Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.

Yoo TH, Lee SH, Yoon K, Baek H, Chung JH, Lee T, Ihm C, Kim M.

Am J Kidney Dis. 2003 Dec;42(6):E11-6.

PMID:
14655226
8.

[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].

Gitelman Syndrome Collaborative Study Group.

Zhonghua Nei Ke Za Zhi. 2017 Sep 1;56(9):712-716. doi: 10.3760/cma.j.issn.0578-1426.2017.09.021. Chinese.

PMID:
28870047
9.

Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.

Lin SH, Shiang JC, Huang CC, Yang SS, Hsu YJ, Cheng CJ.

J Clin Endocrinol Metab. 2005 May;90(5):2500-7. Epub 2005 Feb 1.

PMID:
15687331
10.

Claudins in barrier and transport function-the kidney.

Gong Y, Hou J.

Pflugers Arch. 2017 Jan;469(1):105-113. doi: 10.1007/s00424-016-1906-6. Epub 2016 Nov 23. Review.

11.

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G Gü, Konrad M, Seyberth HW.

Am J Med. 2002 Feb 15;112(3):183-90.

PMID:
11893344
12.

[The Gitelman syndrome--a differential diagnosis of Bartter syndrome].

Zimmermann J, Reincke M, Schramm L, Harlos J, Allolio B.

Med Klin (Munich). 1994 Dec 15;89(12):640-4. German.

PMID:
7869998
13.

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Perdomo-Ramirez A, Aguirre M, Davitaia T, Ariceta G, Ramos-Trujillo E; RenalTube Group, Claverie-Martin F.

Gene. 2019 Mar 20;689:227-234. doi: 10.1016/j.gene.2018.12.024. Epub 2018 Dec 18.

PMID:
30576809
14.

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

Zhang C, Zhu Y, Huang F, Jiang G, Chang J, Li R.

Clin Genet. 2013 Jun;83(6):545-52. doi: 10.1111/cge.12008. Epub 2012 Sep 27.

PMID:
22934535
15.

Pharmacotyping of hypokalaemic salt-losing tubular disorders.

Reinalter SC, Jeck N, Peters M, Seyberth HW.

Acta Physiol Scand. 2004 Aug;181(4):513-21. Review.

PMID:
15283765
16.

Concomitant occurrence of Gitelman and Bartter syndromes in the same family?

Turman MA.

Pediatr Nephrol. 1998 Jan;12(1):23-5.

PMID:
9502562
17.

Gitelman's syndrome (familial hypokalemia-hypomagnesemia).

Barakat AJ, Rennert OM.

J Nephrol. 2001 Jan-Feb;14(1):43-7.

PMID:
11281344
18.

The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.

Haisch L, Almeida JR, Abreu da Silva PR, Schlingmann KP, Konrad M.

Am J Kidney Dis. 2011 Feb;57(2):320-30. doi: 10.1053/j.ajkd.2010.08.038. Epub 2010 Dec 24.

PMID:
21186073
19.

Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis.

Bettinelli A, Vezzoli G, Colussi G, Bianchetti MG, Sereni F, Casari G.

J Nephrol. 1998 Mar-Apr;11(2):61-9. Review.

PMID:
9589375
20.

Claudins and mineral metabolism.

Hou J.

Curr Opin Nephrol Hypertens. 2016 Jul;25(4):308-13. doi: 10.1097/MNH.0000000000000239. Review.

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