Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 133

1.

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.

PMID:
21628937
[PubMed - indexed for MEDLINE]
Free Article
2.

[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. Japanese.

PMID:
20229814
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

[Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project].

Yasujima M, Tsutaya S.

Rinsho Byori. 2009 Apr;57(4):391-6. Japanese.

PMID:
19489442
[PubMed - indexed for MEDLINE]
6.

Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, Nakane C, Mano H, Kawachi H, Sato N, Soma M, Matsumoto K.

Endocrine. 2007 Apr;31(2):149-53.

PMID:
17873326
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
18520105
[PubMed - indexed for MEDLINE]
Free Article
8.

Loss of consciousness and hypokalemia in an elderly man with a mutation of the thiazide-sensitive Na-Cl cotransporter gene.

Hashida T, Yamada M, Hashimoto K, Satoh T, Okada S, Shibusawa N, Ishizuka T, Mori M.

Endocr J. 2006 Dec;53(6):859-63. Epub 2006 Sep 12.

PMID:
16966826
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
16471174
[PubMed - indexed for MEDLINE]
10.

A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test.

Ueda K, Makita N, Kawarazaki H, Fujiwara T, Unuma S, Monkawa T, Hayashi M, Fujita T.

Intern Med. 2012;51(12):1549-53. Epub 2012 Jun 15.

PMID:
22728489
[PubMed - indexed for MEDLINE]
Free Article
11.

Case-control study of the role of the Gitelman's syndrome gene in essential hypertension.

Aoi N, Nakayama T, Sato N, Kosuge K, Haketa A, Sato M, Soma M.

Endocr J. 2008 May;55(2):305-10. Epub 2008 Mar 25.

PMID:
18362449
[PubMed - indexed for MEDLINE]
Free Article
12.

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O.

Pediatr Nephrol. 2007 Mar;22(3):326-32. Epub 2006 Oct 24. Review.

PMID:
17061123
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1159/000218104. Epub 2009 May 7.

PMID:
19420906
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Gitelman's syndrome: a pathophysiological and clinical update.

Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D.

Endocrine. 2012 Feb;41(1):53-7. doi: 10.1007/s12020-011-9556-0. Epub 2011 Nov 15. Review.

PMID:
22169961
[PubMed - indexed for MEDLINE]
16.

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; Italian Collaborative Group for Gitelman Syndrome.

Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30.

PMID:
20675610
[PubMed - indexed for MEDLINE]
Free Article
17.

[Compound heterocygosis for intron 9 + 1 g > T and Leu850pro mutations in the SLC12A3 gene in Gitelman's syndrome].

García Pérez A, Coto E, Santos F, Olea T, Caramelo C.

Nefrologia. 2008;28(6):659-60. Spanish. No abstract available.

PMID:
19016647
[PubMed - indexed for MEDLINE]
Free Article
18.

Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.

Nakamura A, Shimizu C, Nagai S, Yoshida M, Aoki K, Kondo T, Miyoshi H, Wada N, Tajima T, Terauchi Y, Yoshioka N, Koike T.

Clin Endocrinol (Oxf). 2010 Feb;72(2):272-6. doi: 10.1111/j.1365-2265.2009.03649.x. Epub 2009 Jun 8.

PMID:
19508680
[PubMed - indexed for MEDLINE]
19.

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. doi: 10.2215/CJN.06730810. Epub 2010 Nov 4.

PMID:
21051746
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk