BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 18830715)

  • 1. Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis.
    Yamazaki H; Nozu K; Narita I; Nagata M; Nozu Y; Fu XJ; Matsuo M; Iijima K; Gejyo F
    Pediatr Nephrol; 2009 Feb; 24(2):415-8. PubMed ID: 18830715
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.
    Adachi M; Asakura Y; Sato Y; Tajima T; Nakajima T; Yamamoto T; Fujieda K
    Endocr J; 2007 Dec; 54(6):1003-7. PubMed ID: 17998760
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
    Brochard K; Boyer O; Blanchard A; Loirat C; Niaudet P; Macher MA; Deschenes G; Bensman A; Decramer S; Cochat P; Morin D; Broux F; Caillez M; Guyot C; Novo R; Jeunemaître X; Vargas-Poussou R
    Nephrol Dial Transplant; 2009 May; 24(5):1455-64. PubMed ID: 19096086
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.
    Shaer AJ
    Am J Med Sci; 2001 Dec; 322(6):316-32. PubMed ID: 11780689
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases.
    Su IH; Frank R; Gauthier BG; Valderrama E; Simon DB; Lifton RP; Trachtman H
    Pediatr Nephrol; 2000 Sep; 14(10-11):970-2. PubMed ID: 10975308
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.
    Gross I; Siedner-Weintraub Y; Simckes A; Gillis D
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):943-6. PubMed ID: 25741940
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia.
    Kemter E; Rathkolb B; Bankir L; Schrewe A; Hans W; Landbrecht C; Klaften M; Ivandic B; Fuchs H; Gailus-Durner V; Hrabé de Angelis M; Wolf E; Wanke R; Aigner B
    Am J Physiol Renal Physiol; 2010 Jun; 298(6):F1405-15. PubMed ID: 20219826
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter.
    Pressler CA; Heinzinger J; Jeck N; Waldegger P; Pechmann U; Reinalter S; Konrad M; Beetz R; Seyberth HW; Waldegger S
    J Am Soc Nephrol; 2006 Aug; 17(8):2136-42. PubMed ID: 16807401
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.
    D'Angelantonio D; Majore S; Di Netta T; Zotta F; Parise G; Savino E; Rosignoli S; Bizzarri B; Signore F; Grammatico P; Bottillo I
    Arch Pediatr; 2022 Oct; 29(7):530-533. PubMed ID: 36058813
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
    Starremans PG; Kersten FF; Knoers NV; van den Heuvel LP; Bindels RJ
    J Am Soc Nephrol; 2003 Jun; 14(6):1419-26. PubMed ID: 12761241
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic variability in Bartter syndrome type I.
    Bettinelli A; Ciarmatori S; Cesareo L; Tedeschi S; Ruffa G; Appiani AC; Rosini A; Grumieri G; Mercuri B; Sacco M; Leozappa G; Binda S; Cecconi M; Navone C; Curcio C; Syren ML; Casari G
    Pediatr Nephrol; 2000 Sep; 14(10-11):940-5. PubMed ID: 10975303
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
    Nozu K; Iijima K; Kawai K; Nozu Y; Nishida A; Takeshima Y; Fu XJ; Hashimura Y; Kaito H; Nakanishi K; Yoshikawa N; Matsuo M
    Hum Genet; 2009 Oct; 126(4):533-8. PubMed ID: 19513753
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
    Vargas-Poussou R; Feldmann D; Vollmer M; Konrad M; Kelly L; van den Heuvel LP; Tebourbi L; Brandis M; Karolyi L; Hebert SC; Lemmink HH; Deschênes G; Hildebrandt F; Seyberth HW; Guay-Woodford LM; Knoers NV; Antignac C
    Am J Hum Genet; 1998 Jun; 62(6):1332-40. PubMed ID: 9585600
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].
    Sha YG; Wang CL; Du ZW; Zheng BX; Zhou W; Zhao F; Ding GX; Zhang A
    Zhonghua Er Ke Za Zhi; 2022 Feb; 60(2):129-133. PubMed ID: 35090230
    [No Abstract]   [Full Text] [Related]  

  • 17. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
    Halperin D; Dolgin V; Geylis M; Drabkin M; Yogev Y; Wormser O; Schreiber R; Shalev H; Landau D; Birk OS
    Ann Hum Genet; 2019 Sep; 83(5):361-366. PubMed ID: 30977917
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
    Urbanová M; Reiterová J; Stěkrová J; Lněnička P; Ryšavá R
    Folia Biol (Praha); 2011; 57(2):65-73. PubMed ID: 21631963
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.