374 related articles for article (PubMed ID: 29378538)
1. A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.
Chen Y; Zhang Z; Lin X; Pan Q; Zheng F; Li H
BMC Med Genet; 2018 Jan; 19(1):17. PubMed ID: 29378538
[TBL] [Abstract][Full Text] [Related]
2. A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.
Liu S; Ke J; Zhang B; Yu C; Feng Y; Zhao D
Endocr Pract; 2018 Oct; 24(10):889-893. PubMed ID: 30084681
[TBL] [Abstract][Full Text] [Related]
3. A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.
Yang M; Dong Y; Tian J; Yan L; Chen Y; Qiu H; Liu W; Hu Y
Genes Genomics; 2020 Sep; 42(9):1035-1040. PubMed ID: 32712837
[TBL] [Abstract][Full Text] [Related]
4. A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.
Tang W; Huang X; Liu Y; Lv Q; Li T; Song Y; Zhang X; Chen X; Shi Y
J Endocrinol Invest; 2021 Mar; 44(3):471-480. PubMed ID: 32642858
[TBL] [Abstract][Full Text] [Related]
5. A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
Yang W; Zhao S; Xie Y; Mo Z
BMC Nephrol; 2018 Dec; 19(1):362. PubMed ID: 30558554
[TBL] [Abstract][Full Text] [Related]
6. A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.
Wang X; Ding Y; Liu Q; Yang G
Endocrine; 2020 Mar; 67(3):673-677. PubMed ID: 31808035
[TBL] [Abstract][Full Text] [Related]
7. Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.
Kong Y; Xu K; Yuan K; Zhu J; Gu W; Liang L; Wang C
BMC Pediatr; 2019 Apr; 19(1):114. PubMed ID: 30999883
[TBL] [Abstract][Full Text] [Related]
8. A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
Lü Q; Zhang Y; Song C; An Z; Wei S; Huang J; Huang L; Tang L; Tong N
J Endocrinol Invest; 2016 Mar; 39(3):333-40. PubMed ID: 26260218
[TBL] [Abstract][Full Text] [Related]
9. Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.
van der Merwe PD; Rensburg MA; Haylett WL; Bardien S; Davids MR
BMC Nephrol; 2017 Jan; 18(1):38. PubMed ID: 28125972
[TBL] [Abstract][Full Text] [Related]
10. Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous
Zhang JH; Ruan DD; Hu YN; Ruan XL; Zhu YB; Yang X; Wu JB; Lin XF; Luo JW; Tang FQ
Biomed Res Int; 2021; 2021():9973161. PubMed ID: 34046503
[TBL] [Abstract][Full Text] [Related]
11. Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
Ying Q; Ye Z; Zhang W; Pan Y; Dai L; Lin K; Feng X; Dong X; He F
Clin Endocrinol (Oxf); 2023 Nov; 99(5):474-480. PubMed ID: 36562655
[TBL] [Abstract][Full Text] [Related]
12. Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.
Dong B; Chen Y; Liu X; Wang Y; Wang F; Zhao Y; Sun X; Zhao W
BMC Nephrol; 2020 Aug; 21(1):328. PubMed ID: 32758178
[TBL] [Abstract][Full Text] [Related]
13. Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
Subasinghe CJ; Sirisena ND; Herath C; Berge KE; Leren TP; Bulugahapitiya U; Dissanayake VHW
BMC Nephrol; 2017 Apr; 18(1):140. PubMed ID: 28446151
[TBL] [Abstract][Full Text] [Related]
14. A pedigree analysis of two homozygous mutant Gitelman syndrome cases.
Luo J; Yang X; Liang J; Li W
Endocr J; 2015; 62(1):29-36. PubMed ID: 25273610
[TBL] [Abstract][Full Text] [Related]
15. Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.
Yang L; Fan J; Liu Y; Ren Y; Liu Z; Fu H; Qi H; Yang J
Medicine (Baltimore); 2023 Jun; 102(24):e33959. PubMed ID: 37327293
[TBL] [Abstract][Full Text] [Related]
16. Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.
He G; Gang X; Sun Z; Wang P; Wang G; Guo W
Medicine (Baltimore); 2020 Jul; 99(29):e21123. PubMed ID: 32702863
[TBL] [Abstract][Full Text] [Related]
17. A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.
Zhang Y; Zhang F; Chen D; Lü Q; Tang L; Yang C; Lei M; Tong N
Braz J Med Biol Res; 2016 Oct; 49(11):e5261. PubMed ID: 27783806
[TBL] [Abstract][Full Text] [Related]
18. The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.
Yin Y; Li L; Yu S; Xin Y; Zhu L; Hu X; Chen K; Gu W; Mu Y; Zang L; Lyu Z
Front Endocrinol (Lausanne); 2023; 14():1327729. PubMed ID: 38333726
[TBL] [Abstract][Full Text] [Related]
19. Cryptic exon activation in SLC12A3 in Gitelman syndrome.
Nozu K; Nozu Y; Nakanishi K; Konomoto T; Horinouchi T; Shono A; Morisada N; Minamikawa S; Yamamura T; Fujimura J; Nakanishi K; Ninchoji T; Kaito H; Morioka I; Taniguchi-Ikeda M; Vorechovsky I; Iijima K
J Hum Genet; 2017 Feb; 62(2):335-337. PubMed ID: 27784896
[TBL] [Abstract][Full Text] [Related]
20. Novel mutations of the
Wang F; Guo M; Li J; Ma S
Scand J Clin Lab Invest; 2021 Dec; 81(8):629-633. PubMed ID: 34657521
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]