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Items: 1 to 20 of 154

1.

A case of Gitelman syndrome associated with idiopathic intracranial hypertension.

Tsutsui H, Hamano T, Kawaura Y, Inaba S, Miyamori I, Yasujima M, Yoneda M, Kuriyama M.

Intern Med. 2011;50(14):1493-6. Epub 2011 Jul 15.

2.

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.

PMID:
17059986
3.

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.

PMID:
17654016
4.

[Gitelman syndrome: a crucial role of laboratory medicine for the diagnosis].

Murienne B, Pointet P, Beaune G.

Ann Biol Clin (Paris). 2013 Mar-Apr;71(2):235-9. doi: 10.1684/abc.2013.0791. French.

5.

Eplerenone improved hypokalemia in a patient with Gitelman's syndrome.

Ito Y, Yoshida M, Nakayama M, Tsutaya S, Ogawa K, Maeda H, Miyata M, Oiso Y.

Intern Med. 2012;51(1):83-6. Epub 2012 Jan 1.

6.

Gitelman syndrome as a cause of psychomotor retardation in a toddler.

Skalova S, Neuman D, Lnenicka P, Stekrova J.

Arab J Nephrol Transplant. 2013 Jan;6(1):37-9.

PMID:
23282232
7.

Gitelman syndrome.

Knoers NV, Levtchenko EN.

Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Review.

8.

Gitelman's syndrome: report of one case.

Chan CF, Mu SC, Lau BH, Chang CJ, Lin SH.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):31-4.

PMID:
18581727
9.

Early appearance of hypokalemia in Gitelman syndrome.

Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML, Tedeschi S, Bianchetti MG.

Pediatr Nephrol. 2010 Oct;25(10):2179-82. doi: 10.1007/s00467-010-1575-1. Epub 2010 Jun 16.

PMID:
20552229
10.

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. doi: 10.1111/j.1440-1797.2008.01042.x. Epub 2009 Jan 21.

PMID:
19207868
11.
12.

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. doi: 10.1093/ndt/gfn229. Epub 2008 May 9.

PMID:
18469313
13.

Hypokalemic rhabdomyolysis in a child with Gitelman's syndrome.

Kumagai H, Matsumoto S, Nozu K.

Pediatr Nephrol. 2010 May;25(5):953-5. doi: 10.1007/s00467-009-1412-6.

PMID:
20072789
14.

Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.

Yagi H, Yahata K, Usui T, Hasegawa C, Seta K, Sugawara A.

Intern Med. 2011;50(11):1211-4. Epub 2011 Jun 1.

15.

[Idiopathic intracranial hypertension without headache detected during a routine health check].

Sakushima K, Tsuji S, Niino M, Yabe I, Sasaki H.

Rinsho Shinkeigaku. 2008 Jun;48(6):430-2. Japanese.

PMID:
18616157
16.

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. doi: 10.1203/PDR.0b013e3181b9b4d3.

PMID:
19668106
17.

Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.

Hsu YJ, Yang SS, Chu NF, Sytwu HK, Cheng CJ, Lin SH.

Nephrol Dial Transplant. 2009 Apr;24(4):1170-5. doi: 10.1093/ndt/gfn619. Epub 2008 Nov 25.

PMID:
19033254
18.

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.

PMID:
17954289
19.

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; Belgian Network for Study of Gitelman Syndrome.

J Am Soc Nephrol. 2007 Apr;18(4):1271-83. Epub 2007 Feb 28.

20.

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome.

Aoki K, Tajima T, Yabushita Y, Nakamura A, Nezu U, Takahashi M, Kimura M, Terauchi Y.

Endocr J. 2008 Jul;55(3):557-60. Epub 2008 Jun 3.

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