BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 31661060)

  • 1. Bartter syndrome type III with only a synonymous mutation of the
    Xue Y; Wang B; Tang R; Ni H; Chen P; Liu BC; Zhang X
    Clin Nephrol; 2019 Dec; 92(6):325-328. PubMed ID: 31661060
    [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. 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]  

  • 4. A novel mutation associated with Type III Bartter syndrome: A report of five cases.
    Li Y; Wu C; Gu J; Li D; Yang Y
    Mol Med Rep; 2019 Jul; 20(1):65-72. PubMed ID: 31115572
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.
    Wang C; Chen Y; Zheng B; Zhu M; Fan J; Wang J; Jia Z; Huang S; Zhang A
    Am J Physiol Renal Physiol; 2018 Oct; 315(4):F844-F851. PubMed ID: 29442545
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.
    Yaprak D; Kara H; Calisici E; Karagöl BS; Altan M
    Birth Defects Res; 2023 Oct; 115(17):1674-1679. PubMed ID: 37587715
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
    García Castaño A; Pérez de Nanclares G; Madariaga L; Aguirre M; Madrid Á; Chocrón S; Nadal I; Navarro M; Lucas E; Fijo J; Espino M; Espitaletta Z; García Nieto V; Barajas de Frutos D; Loza R; Pintos G; Castaño L; ; Ariceta G
    PLoS One; 2017; 12(3):e0173581. PubMed ID: 28288174
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

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

  • 12. A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.
    Li J; Hu S; Nie Y; Wang R; Tan M; Li H; Zhu S
    Medicine (Baltimore); 2019 Aug; 98(34):e16738. PubMed ID: 31441846
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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. Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
    Bettinelli A; Borsa N; Syrén ML; Mattiello C; Coviello D; Edefonti A; Giani M; Travi M; Tedeschi S
    Pediatr Res; 2005 Dec; 58(6):1269-73. PubMed ID: 16306206
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Bartter syndrome with long-term follow-up: a case report.
    Wu X; Yang G; Chen S; Tang M; Jian S; Chen F; Wu X
    J Int Med Res; 2020 Aug; 48(8):300060520947876. PubMed ID: 32857947
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
    Tajima T; Nawate M; Takahashi Y; Mizoguchi Y; Sugihara S; Yoshimoto M; Murakami M; Adachi M; Tachibana K; Mochizuki H; Fujieda K
    Endocr J; 2006 Oct; 53(5):647-52. PubMed ID: 16902263
    [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. Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
    Hernández NEG; Pérez LIE; Aguilera D; Camargo-Muñiz MD; Espinosa CFC; Jaramillo MCR; Salvador C; González ZL; Hureaux M; Vargas-Poussou R
    Arch Med Res; 2023 Sep; 54(6):102859. PubMed ID: 37516009
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.