Literature DB >> 21343949

Clinical utility gene card for: Gitelman syndrome.

Nine Vam Knoers1, Olivier Devuyst, Erik-Jan Kamsteeg.   

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Year:  2011        PMID： 21343949      PMCID： PMC3172918          DOI： 10.1038/ejhg.2011.14

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

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

Authors:  Eva Riveira-Munoz; Qing Chang; Nathalie Godefroid; Joost G Hoenderop; René J Bindels; Karin Dahan; Olivier Devuyst
Journal:  J Am Soc Nephrol       Date:  2007-02-28       Impact factor: 10.121

2.  The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.

Authors:  S T Bouwer; E Coto; F Santos; D Angelicheva; D Chandler; L Kalaydjieva
Journal:  Kidney Int       Date:  2007-10       Impact factor: 10.612

3.  Salt wasting and blood pressure.

Authors:  Olivier Devuyst
Journal:  Nat Genet       Date:  2008-05       Impact factor: 38.330

Review 4.  Gitelman's syndrome: towards genotype-phenotype correlations?

Authors:  Eva Riveira-Munoz; Qing Chang; René J Bindels; Olivier Devuyst
Journal:  Pediatr Nephrol       Date:  2006-10-24       Impact factor: 3.714

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

Authors:  Kandai Nozu; Kazumoto Iijima; Yoshimi Nozu; Ei Ikegami; Takehide Imai; Xue Jun Fu; Hiroshi Kaito; Koichi Nakanishi; Norishige Yoshikawa; Masafumi Matsuo
Journal:  Pediatr Res       Date:  2009-11       Impact factor: 3.756

6.  Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

Authors:  H H Lemmink; N V Knoers; L Károlyi; H van Dijk; P Niaudet; C Antignac; L M Guay-Woodford; P R Goodyer; J C Carel; A Hermes; H W Seyberth; L A Monnens; L P van den Heuvel
Journal:  Kidney Int       Date:  1998-09       Impact factor: 10.612

Review 7.  Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Authors:  Annette Reissinger; Michael Ludwig; Boris Utsch; Astrid Prömse; Johannes Baulmann; Burkhard Weisser; Hans Vetter; Herbert J Kramer; Dirk Bokemeyer
Journal:  Kidney Blood Press Res       Date:  2002       Impact factor: 2.687

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

Authors:  Leping Shao; Liqiu Liu; Zhimin Miao; Hong Ren; Weiming Wang; Yanhua Lang; Shaoheng Yue; Nan Chen
Journal:  Am J Nephrol       Date:  2008-06-26       Impact factor: 3.754

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

Authors:  D B Simon; C Nelson-Williams; M J Bia; D Ellison; F E Karet; A M Molina; I Vaara; F Iwata; H M Cushner; M Koolen; F J Gainza; H J Gitleman; R P Lifton
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

10.  Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome.

Authors:  Troels Ring; Nine Knoers; Man S Oh; Mitchell L Halperin
Journal:  Pediatr Nephrol       Date:  2002-06-11       Impact factor: 3.714
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  1 in total

1.  Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review.

Authors:  Eduardo De la Cruz-Cano; Cristina Del C Jiménez-González; Vicente Morales-García; Conny Pineda-Pérez; Juan G Tejas-Juárez; Francisco J Rendón-Gandarilla; Silvia Jiménez-Morales; José A Díaz-Gandarilla
Journal:  BMC Nephrol       Date:  2019-10-28       Impact factor: 2.388
  1 in total

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