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Clinical utility gene card for: Gitelman syndrome.

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Knoers, Nine Vam Devuyst, Olivier [UCL] Kamsteeg, Erik-Jan
Document type Article de périodique (Journal article) – Journal Article, Research Support, Non-U.S. Gov't
Access type Accès libre
Publication date 2011
Language Anglais
Journal information "European Journal of Human Genetics" - Vol. 19, no. 8 (2011)
Peer reviewed yes
Publisher Nature Publishing Group ((United Kingdom) London)
issn 1018-4813
e-issn 1476-5438
Publication status Publié
Affiliations UCL - SSS/IREC/NEFR - Pôle de Néphrologie
UCL - (SLuc) Service de néphrologie
MESH Subject Chloride Channels - genetics ; Gitelman Syndrome - genetics ; Humans ; Mutation ; Receptors, Drug - genetics ; Symporters - genetics
Links
  1. Simon David B., Nelson-Williams Carol, Johnson Bia Margaret, Ellison David, Karet Fiona E., Morey Molina Antonio, Vaara Ivar, Iwata Fujihiko, Cushner Howard M., Koolen Marianne, Gainza Francisco J., Gitelman Hillel J., Lifton Richard P., Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter, 10.1038/ng0196-24
  2. Lemmink Henny H., Knoers Nine V.A.M., Károlyi Lothar, van Dijk Henk, Niaudet Patrick, Antignac Corinne, Guay-Woodford Lisa M., Goodyer Paul R., Carel Jean-Claude, Hermes Ad, Seyberth Hansjörg W., Monnens Leo A.H., van den Heuvel Lambert P.W.J., Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain, 10.1046/j.1523-1755.1998.00070.x
  3. Ring Troels, Knoers Nine, Oh Man S., Halperin Mitchell L., Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome, 10.1007/s00467-002-0898-y
  4. Reissinger Annette, Ludwig Michael, Utsch Boris, Prömse Astrid, Baulmann Johannes, Weisser Burkhard, Vetter Hans, Kramer Herbert J., Bokemeyer Dirk, Novel NCCT Gene Mutations as a Cause of Gitelman’s Syndrome and a Systematic Review of Mutant and Polymorphic NCCT Alleles, 10.1159/000068695
  5. Knoers Nine V.A.M., Gitelman Syndrome, 10.1053/j.ackd.2006.01.014
  6. Riveira-Munoz Eva, Chang Qing, Bindels René J., Devuyst Olivier, Gitelman’s syndrome: towards genotype-phenotype correlations?, 10.1007/s00467-006-0321-1
  7. Bouwer S.T., Coto E., Santos F., Angelicheva D., Chandler D., Kalaydjieva L., The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe, 10.1038/sj.ki.5002504
  8. Riveira-Munoz E., Chang Q., Godefroid N., Hoenderop J. G., Bindels R. J., Dahan K., Devuyst O., , Transcriptional and Functional Analyses of SLC12A3 Mutations: New Clues for the Pathogenesis of Gitelman Syndrome, 10.1681/asn.2006101095
  9. Ji Weizhen, Foo Jia Nee, O'Roak Brian J, Zhao Hongyu, Larson Martin G, Simon David B, Newton-Cheh Christopher, State Matthew W, Levy Daniel, Lifton Richard P, Rare independent mutations in renal salt handling genes contribute to blood pressure variation, 10.1038/ng.118
  10. Shao Leping, Liu Liqiu, Miao Zhimin, Ren Hong, Wang Weiming, Lang Yanhua, Yue Shaoheng, Chen Nan, A Novel SLC12A3 Splicing Mutation Skipping of Two Exons and Preliminary Screening for Alternative Splice Variants in Human Kidney, 10.1159/000141932
  11. Knoers Nine V. A. M., Inherited forms of renal hypomagnesemia: an update, 10.1007/s00467-008-0968-x
  12. Nozu Kandai, Iijima Kazumoto, Nozu Yoshimi, Ikegami Ei, Imai Takehide, Fu Xue Jun, Kaito Hiroshi, Nakanishi Koichi, Yoshikawa Norishige, Matsuo Masafumi, A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome, 10.1203/pdr.0b013e3181b9b4d3
  13. QIN LING, SHAO LEPING, REN HONG, WANG WEIMING, PAN XIAOXIA, ZHANG WEN, WANG ZHAOHUI, SHEN PINGYAN, CHEN NAN, Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome, 10.1111/j.1440-1797.2008.01042.x
  14. Hsu Y.-J., Yang S.-S., Chu N.-F., Sytwu H.-K., Cheng C.-J., Lin S.-H., Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure, 10.1093/ndt/gfn619
Bibliographic reference Knoers, Nine Vam ; Devuyst, Olivier ; Kamsteeg, Erik-Jan. Clinical utility gene card for: Gitelman syndrome.. In: European Journal of Human Genetics, Vol. 19, no. 8 (2011)
Permanent URL http://hdl.handle.net/2078.1/107439