257 related articles for article (PubMed ID: 18469313)
1. Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
Riveira-Munoz E; Devuyst O; Belge H; Jeck N; Strompf L; Vargas-Poussou R; Jeunemaître X; Blanchard A; Knoers NV; Konrad M; Dahan K
Nephrol Dial Transplant; 2008 Oct; 23(10):3120-5. PubMed ID: 18469313
[TBL] [Abstract][Full Text] [Related]
2. Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
Fava C; Montagnana M; Rosberg L; Burri P; Jönsson A; Wanby P; Wahrenberg H; Hulthén UL; Aurell M; Guidi GC; Melander O
DNA Seq; 2007 Oct; 18(5):395-9. PubMed ID: 17654016
[TBL] [Abstract][Full Text] [Related]
3. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
Riveira-Munoz E; Chang Q; Godefroid N; Hoenderop JG; Bindels RJ; Dahan K; Devuyst O;
J Am Soc Nephrol; 2007 Apr; 18(4):1271-83. PubMed ID: 17329572
[TBL] [Abstract][Full Text] [Related]
4. Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.
Qin L; Shao L; Ren H; Wang W; Pan X; Zhang W; Wang Z; Shen P; Chen N
Nephrology (Carlton); 2009 Feb; 14(1):52-8. PubMed ID: 19207868
[TBL] [Abstract][Full Text] [Related]
5. Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation.
Coto E; Arriba G; García-Castro M; Santos F; Corao AI; Díaz M; Sánchez Heras M; Basterrechea MA; Tallón S; Alvarez V
Am J Nephrol; 2009; 30(3):218-21. PubMed ID: 19420906
[TBL] [Abstract][Full Text] [Related]
6. Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.
Joo KW; Lee JW; Jang HR; Heo NJ; Jeon US; Oh YK; Lim CS; Na KY; Kim J; Cheong HI; Han JS
Am J Kidney Dis; 2007 Nov; 50(5):765-73. PubMed ID: 17954289
[TBL] [Abstract][Full Text] [Related]
7. [Establishment of genetic testing for Gitelman's syndrome].
Nakayama T; Aoi N; Sato N; Sato M; Kosuge K; Izumi Y; Soma M; Matsumoto K
Rinsho Byori; 2010 Feb; 58(2):156-61. PubMed ID: 20229814
[TBL] [Abstract][Full Text] [Related]
8. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.
Shao L; Liu L; Miao Z; Ren H; Wang W; Lang Y; Yue S; Chen N
Am J Nephrol; 2008; 28(6):900-7. PubMed ID: 18580052
[TBL] [Abstract][Full Text] [Related]
9. Gitelman's syndrome: report of one case.
Chan CF; Mu SC; Lau BH; Chang CJ; Lin SH
Acta Paediatr Taiwan; 2008; 49(1):31-4. PubMed ID: 18581727
[TBL] [Abstract][Full Text] [Related]
10. Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure.
Fava C; Montagnana M; Rosberg L; Burri P; Almgren P; Jönsson A; Wanby P; Lippi G; Minuz P; Hulthèn LU; Aurell M; Melander O
Hum Mol Genet; 2008 Feb; 17(3):413-8. PubMed ID: 17981812
[TBL] [Abstract][Full Text] [Related]
11. Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
Maki N; Komatsuda A; Wakui H; Ohtani H; Kigawa A; Aiba N; Hamai K; Motegi M; Yamaguchi A; Imai H; Sawada K
Nephrol Dial Transplant; 2004 Jul; 19(7):1761-6. PubMed ID: 15069170
[TBL] [Abstract][Full Text] [Related]
12. The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.
Syrén ML; Borsa Ghiringhelli N; Bettinelli A; Colussi G; Vargas-Poussou R; Tammaro F; Coviello DA; Tedeschi S;
Nephrol Dial Transplant; 2011 Feb; 26(2):557-61. PubMed ID: 20675610
[TBL] [Abstract][Full Text] [Related]
13. A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.
Nozu K; Iijima K; Nozu Y; Ikegami E; Imai T; Fu XJ; Kaito H; Nakanishi K; Yoshikawa N; Matsuo M
Pediatr Res; 2009 Nov; 66(5):590-3. PubMed ID: 19668106
[TBL] [Abstract][Full Text] [Related]
14. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.
Lo YF; Nozu K; Iijima K; Morishita T; Huang CC; Yang SS; Sytwu HK; Fang YW; Tseng MH; Lin SH
Clin J Am Soc Nephrol; 2011 Mar; 6(3):630-9. PubMed ID: 21051746
[TBL] [Abstract][Full Text] [Related]
15. A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
Godefroid N; Riveira-Munoz E; Saint-Martin C; Nassogne MC; Dahan K; Devuyst O
Am J Kidney Dis; 2006 Nov; 48(5):e73-9. PubMed ID: 17059986
[TBL] [Abstract][Full Text] [Related]
16. Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Tseng MH; Yang SS; Hsu YJ; Fang YW; Wu CJ; Tsai JD; Hwang DY; Lin SH
J Clin Endocrinol Metab; 2012 Aug; 97(8):E1478-82. PubMed ID: 22679066
[TBL] [Abstract][Full Text] [Related]
17. Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E; Chang Q; Bindels RJ; Devuyst O
Pediatr Nephrol; 2007 Mar; 22(3):326-32. PubMed ID: 17061123
[TBL] [Abstract][Full Text] [Related]
18. Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.
Yang SS; Lo YF; Yu IS; Lin SW; Chang TH; Hsu YJ; Chao TK; Sytwu HK; Uchida S; Sasaki S; Lin SH
Hum Mutat; 2010 Dec; 31(12):1304-15. PubMed ID: 20848653
[TBL] [Abstract][Full Text] [Related]
19. Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.
Kaito H; Nozu K; Fu XJ; Kamioka I; Fujita T; Kanda K; Krol RP; Suminaga R; Ishida A; Iijima K; Matsuo M
Pediatr Res; 2007 Apr; 61(4):502-5. PubMed ID: 17414160
[TBL] [Abstract][Full Text] [Related]
20. Functional confirmation of Gitelman's syndrome mutations in Japanese.
Naraba H; Kokubo Y; Tomoike H; Iwai N
Hypertens Res; 2005 Oct; 28(10):805-9. PubMed ID: 16471174
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
