BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 38508775)

  • 1. Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
    Jiang L; Li D; Guo Q; Li Y; Zan L; Ao R
    Endocr J; 2024 May; 71(5):537-542. PubMed ID: 38508775
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.
    Zhu B; Jiang H; Cao M; Zhao X; Jiang H
    BMC Med Genet; 2019 Aug; 20(1):137. PubMed ID: 31409296
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
    Nozu K; Yamamura T; Horinouchi T; Nagano C; Sakakibara N; Ishikura K; Hamada R; Morisada N; Iijima K
    Pediatr Int; 2020 Apr; 62(4):428-437. PubMed ID: 31830341
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    J Korean Med Sci; 2016 Jan; 31(1):47-54. PubMed ID: 26770037
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Simultaneous Homozygous Mutations in
    Mou L; Wu F
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33807568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.
    Umene R; Kitamura M; Arai H; Matsumura K; Ishimaru Y; Maeda K; Uramatsu T; Obata Y; Mori T; Sohara E; Uchida S; Nishino T
    CEN Case Rep; 2020 Nov; 9(4):375-379. PubMed ID: 32506365
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
    Cheng CJ; Lo YF; Chen JC; Huang CL; Lin SH
    J Physiol; 2017 Aug; 595(16):5573-5586. PubMed ID: 28555925
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
    Konrad M; Vollmer M; Lemmink HH; VAN DEN Heuvel LPWJ; Jeck N; Vargas-Poussou R; Lakings A; Ruf R; Deschênes G; Antignac C; Guay-Woodford L; Knoers NVAM; Seyberth HW; Feldmann D; Hildebrandt F
    J Am Soc Nephrol; 2000 Aug; 11(8):1449-1459. PubMed ID: 10906158
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.
    Cruz AJ; Castro A
    BMJ Case Rep; 2013 Jan; 2013():. PubMed ID: 23345488
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.
    Zhao Q; Xiang Q; Tan Y; Xiao X; Xie H; Wang H; Yang M; Liu S
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2027. PubMed ID: 35913199
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency.
    Tamagawa E; Inaba H; Ota T; Ariyasu H; Kawashima H; Wakasaki H; Furuta H; Nishi M; Nakao T; Kaito H; Iijima K; Nakanishi K; Yoshikawa N; Akamizu T
    Endocr J; 2014; 61(9):855-60. PubMed ID: 24965226
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
    Zelikovic I; Szargel R; Hawash A; Labay V; Hatib I; Cohen N; Nakhoul F
    Kidney Int; 2003 Jan; 63(1):24-32. PubMed ID: 12472765
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic basis of Bartter syndrome in Korea.
    Lee BH; Cho HY; Lee H; Han KH; Kang HG; Ha IS; Lee JH; Park YS; Shin JI; Lee DY; Kim SY; Choi Y; Cheong HI
    Nephrol Dial Transplant; 2012 Apr; 27(4):1516-21. PubMed ID: 21865213
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
    Chiang WF; Lin SH; Chan JS; Lin SH
    Clin Nephrol; 2014 Feb; 81(2):146-50. PubMed ID: 22854165
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
    Nozu K; Inagaki T; Fu XJ; Nozu Y; Kaito H; Kanda K; Sekine T; Igarashi T; Nakanishi K; Yoshikawa N; Iijima K; Matsuo M
    J Med Genet; 2008 Mar; 45(3):182-6. PubMed ID: 18310267
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
    Blanchard A; Bockenhauer D; Bolignano D; Calò LA; Cosyns E; Devuyst O; Ellison DH; Karet Frankl FE; Knoers NV; Konrad M; Lin SH; Vargas-Poussou R
    Kidney Int; 2017 Jan; 91(1):24-33. PubMed ID: 28003083
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia.
    Bao M; Cai J; Yang X; Ma W
    Clin Exp Hypertens; 2019; 41(4):381-388. PubMed ID: 29953267
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A mosaic mutation in the
    Zhou L; Chen X; Xiong J; Lei L
    Front Pediatr; 2023; 11():1034923. PubMed ID: 37138571
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
    Jeck N; Konrad M; Peters M; Weber S; Bonzel KE; Seyberth HW
    Pediatr Res; 2000 Dec; 48(6):754-8. PubMed ID: 11102542
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.