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Items: 1 to 20 of 186

1.

Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.

Kong Y, Xu K, Yuan K, Zhu J, Gu W, Liang L, Wang C.

BMC Pediatr. 2019 Sep 10;19(1):324. doi: 10.1186/s12887-019-1705-2.

2.

A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.

Li J, Hu S, Nie Y, Wang R, Tan M, Li H, Zhu S.

Medicine (Baltimore). 2019 Aug;98(34):e16738. doi: 10.1097/MD.0000000000016738.

3.

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.

Zhu B, Jiang H, Cao M, Zhao X, Jiang H.

BMC Med Genet. 2019 Aug 13;20(1):137. doi: 10.1186/s12881-019-0869-9.

4.

[Genetic analysis of a pedigree affected with Bartter's syndrome].

Yang K, Huo X, Zhang Y, Zhang M, Gao Y, Wu D, Lou G, Qi N, Zhang B, Wang D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):701-703. doi: 10.3760/cma.j.issn.1003-9406.2019.07.011. Chinese.

PMID:
31302915
5.

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.

Pérez-Rius C, Castellanos A, Gaitán-Peñas H, Navarro A, Artuch R, Barrallo-Gimeno A, Estévez R.

J Physiol. 2019 Aug;597(15):3969-3983. doi: 10.1113/JP278069. Epub 2019 Jul 3.

PMID:
31177533
6.

A novel mutation associated with Type III Bartter syndrome: A report of five cases.

Li Y, Wu C, Gu J, Li D, Yang Y.

Mol Med Rep. 2019 Jul;20(1):65-72. doi: 10.3892/mmr.2019.10255. Epub 2019 May 16.

PMID:
31115572
7.

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.

Kong Y, Xu K, Yuan K, Zhu J, Gu W, Liang L, Wang C.

BMC Pediatr. 2019 Apr 18;19(1):114. doi: 10.1186/s12887-019-1498-3. Erratum in: BMC Pediatr. 2019 Sep 10;19(1):324.

8.

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M.

Orphanet J Rare Dis. 2019 Feb 13;14(1):41. doi: 10.1186/s13023-018-0981-5.

9.

Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation.

Brambilla I, Poddighe D, Semeria Mantelli S, Guarracino C, Marseglia GL.

Pediatr Int. 2019 Feb;61(2):193-197. doi: 10.1111/ped.13726. Epub 2019 Feb 21. No abstract available.

PMID:
30387909
10.

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, Kleta R, Van't Hoff W, Bockenhauer D.

Clin Kidney J. 2018 Jun;11(3):302-309. doi: 10.1093/ckj/sfx118. Epub 2017 Nov 10.

11.

Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen.

Yang X, Zhang G, Wang M, Yang H, Li Q.

Front Pediatr. 2018 May 30;6:153. doi: 10.3389/fped.2018.00153. eCollection 2018.

12.

[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].

Conte E, Imbrici P, Sahbani D, Liantonio A, Conte D.

G Ital Nefrol. 2018 May;35(3). pii: 2018-vol3. Italian.

PMID:
29786180
13.

Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.

Wang C, Chen Y, Zheng B, Zhu M, Fan J, Wang J, Jia Z, Huang S, Zhang A.

Am J Physiol Renal Physiol. 2018 Oct 1;315(4):F844-F851. doi: 10.1152/ajprenal.00077.2017. Epub 2018 Feb 14.

14.

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.

Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K.

Clin Exp Nephrol. 2018 Aug;22(4):881-888. doi: 10.1007/s10157-018-1534-x. Epub 2018 Jan 25.

PMID:
29372472
15.

Mutation spectrum of Chinese patients with Bartter syndrome.

Han Y, Lin Y, Sun Q, Wang S, Gao Y, Shao L.

Oncotarget. 2017 Sep 27;8(60):101614-101622. doi: 10.18632/oncotarget.21355. eCollection 2017 Nov 24.

16.

In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.

Louet M, Bitam S, Bakouh N, Bignon Y, Planelles G, Lagorce D, Miteva MA, Eladari D, Teulon J, Villoutreix BO.

Sci Rep. 2017 Aug 3;7(1):7249. doi: 10.1038/s41598-017-07794-5.

17.

Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research.

Imbrici P, Conte D, Liantonio A.

J Physiol. 2017 Aug 15;595(16):5403-5404. doi: 10.1113/JP274645. Epub 2017 Jul 7. No abstract available.

18.

Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.

Cheng CJ, Lo YF, Chen JC, Huang CL, Lin SH.

J Physiol. 2017 Aug 15;595(16):5573-5586. doi: 10.1113/JP274344. Epub 2017 Jun 27.

19.

Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.

Fujino S, Miyoshi N, Ohue M, Mukai M, Kukita Y, Hata T, Matsuda C, Mizushima T, Doki Y, Mori M.

Genes (Basel). 2017 May 12;8(5). pii: E139. doi: 10.3390/genes8050139.

20.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R.

J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5.

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