17873326,10616841,19489442,12911530,15198479,26467025,26041598,21757836,26770037,15069170,21628937,16471174,28492532[uid] - Search Results

Year	Number of Results
2000	1
2003	1
2004	2
2005	1
2007	1
2009	1
2011	2
2015	3
2016	3
2017	1
2024	0

1

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. Aoi N, et al. Endocrine. 2007 Apr;31(2):149-53. doi: 10.1007/s12020-007-0024-9. Endocrine. 2007. PMID: 17873326

2

Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.

Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T. Monkawa T, et al. J Am Soc Nephrol. 2000 Jan;11(1):65-70. doi: 10.1681/ASN.V11165. J Am Soc Nephrol. 2000. PMID: 10616841 Clinical Trial.

3

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

Yasujima M, Tsutaya S. Yasujima M, et al. Rinsho Byori. 2009 Apr;57(4):391-6. Rinsho Byori. 2009. PMID: 19489442 Japanese.

4

Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.

Fukuyama S, Okudaira S, Yamazato S, Yamazato M, Ohta T. Fukuyama S, et al. Kidney Int. 2003 Sep;64(3):808-16. doi: 10.1046/j.1523-1755.2003.00163.x. Kidney Int. 2003. PMID: 12911530 Free article.

5

A high prevalence of Gitelman's syndrome mutations in Japanese.

Tago N, Kokubo Y, Inamoto N, Naraba H, Tomoike H, Iwai N. Tago N, et al. Hypertens Res. 2004 May;27(5):327-31. doi: 10.1291/hypres.27.327. Hypertens Res. 2004. PMID: 15198479 Free article.

6

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.

7

Graves' disease and Gitelman syndrome.

Mizokami T, Hishinuma A, Kogai T, Hamada K, Maruta T, Higashi K, Tajiri J. Mizokami T, et al. Clin Endocrinol (Oxf). 2016 Jan;84(1):149-50. doi: 10.1111/cen.12829. Epub 2015 Jul 3. Clin Endocrinol (Oxf). 2016. PMID: 26041598 No abstract available.

8

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. Tsutsui H, et al. Intern Med. 2011;50(14):1493-6. doi: 10.2169/internalmedicine.50.5305. Epub 2011 Jul 15. Intern Med. 2011. PMID: 21757836 Free article.

9

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Lee JW, Lee J, Heo NJ, Cheong HI, Han JS. Lee JW, et al. J Korean Med Sci. 2016 Jan;31(1):47-54. doi: 10.3346/jkms.2016.31.1.47. Epub 2015 Dec 24. J Korean Med Sci. 2016. PMID: 26770037 Free PMC article.

10

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. Maki N, et al. Nephrol Dial Transplant. 2004 Jul;19(7):1761-6. doi: 10.1093/ndt/gfh239. Epub 2004 Apr 6. Nephrol Dial Transplant. 2004. PMID: 15069170

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