BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 21189980)

  • 21. Bartter syndrome: An infrequent tubulopathy of prenatal onset.
    Gómez de la F CL; Novoa P JM; Caviedes R N
    Rev Chil Pediatr; 2019 Aug; 90(4):437-442. PubMed ID: 31859717
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.
    Al Shibli A; Narchi H
    World J Methodol; 2015 Jun; 5(2):55-61. PubMed ID: 26140272
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.
    Qiu L; Yang F; He Y; Yuan H; Zhou J
    Front Med; 2018 Oct; 12(5):550-558. PubMed ID: 29520692
    [TBL] [Abstract][Full Text] [Related]  

  • 25. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG
    Prog Mol Biol Transl Sci; 2009; 89():15-29. PubMed ID: 20374732
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.
    Breinbjerg A; Siggaard Rittig C; Gregersen N; Rittig S; Hvarregaard Christensen J
    Acta Paediatr; 2017 Jan; 106(1):161-167. PubMed ID: 27748541
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
    Kitanaka S; Sato U; Maruyama K; Igarashi T
    Pediatr Nephrol; 2006 Feb; 21(2):190-3. PubMed ID: 16328537
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.
    Fretzayas A; Gole E; Attilakos A; Daskalaki A; Nicolaidou P; Papadopoulou A
    Pediatr Int; 2013 Jun; 55(3):371-3. PubMed ID: 23782368
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The molecular genetic approach to "Bartter's syndrome".
    Károlyi L; Koch MC; Grzeschik KH; Seyberth HW
    J Mol Med (Berl); 1998 Apr; 76(5):317-25. PubMed ID: 9587066
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
    Bichet DG; El Tarazi A; Matar J; Lussier Y; Arthus MF; Lonergan M; Bockenhauer D; Bissonnette P
    Clin Kidney J; 2012 Jun; 5(3):195-202. PubMed ID: 26069764
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels.
    Sharma A; Linshaw MA
    Clin Exp Nephrol; 2011 Aug; 15(4):572-6. PubMed ID: 21431899
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Splicing Characterization of
    Wang C; Han Y; Zhou J; Zheng B; Zhou W; Bao H; Jia Z; Zhang A; Huang S; Ding G; Zhao F
    Front Genet; 2020; 11():81. PubMed ID: 32153641
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.
    Cho JT; Guay-Woodford LM
    J Korean Med Sci; 2003 Feb; 18(1):65-8. PubMed ID: 12589089
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Late-onset Bartter syndrome type II.
    Gollasch B; Anistan YM; Canaan-Kühl S; Gollasch M
    Clin Kidney J; 2017 Oct; 10(5):594-599. PubMed ID: 28979772
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.
    Xiumin W; Zheng S; Meichun X; Junfen F; Li L
    Iran J Pediatr; 2013 Feb; 23(1):89-94. PubMed ID: 23550235
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.
    Nozu K; Fu XJ; Kaito H; Kanda K; Yokoyama N; Przybyslaw Krol R; Nakajima T; Kajiyama M; Iijima K; Matsuo M
    Pediatr Nephrol; 2007 Aug; 22(8):1219-23. PubMed ID: 17401586
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.