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Journal Abstract Search

152 related items for PubMed ID: 23110775

  • 1. Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
    de Pablos AL, García-Nieto V, López-Menchero JC, Ramos-Trujillo E, González-Acosta H, Claverie-Martín F.
    Clin Nephrol; 2014 May; 81(5):363-8. PubMed ID: 23110775
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  • 2. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
    Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E.
    J Clin Endocrinol Metab; 2003 Feb; 88(2):781-6. PubMed ID: 12574213
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  • 5. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.
    García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.
    Pediatr Nephrol; 2006 May; 21(5):643-8. PubMed ID: 16572343
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  • 6. Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
    Park CW, Lim JH, Youn DY, Chung S, Lim MH, Kim YK, Chang YS, Lee JH.
    Clin Nephrol; 2011 Feb; 75 Suppl 1():69-74. PubMed ID: 21269598
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  • 7. 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
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  • 13. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
    Krämer BK, Bergler T, Stoelcker B, Waldegger S.
    Nat Clin Pract Nephrol; 2008 Jan; 4(1):38-46. PubMed ID: 18094726
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  • 14. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
    Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C.
    Am J Hum Genet; 2009 Aug; 85(2):273-80. PubMed ID: 19646679
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  • 15. Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.
    Rickheit G, Maier H, Strenzke N, Andreescu CE, De Zeeuw CI, Muenscher A, Zdebik AA, Jentsch TJ.
    EMBO J; 2008 Nov 05; 27(21):2907-17. PubMed ID: 18833191
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  • 17. 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 05; 21(2):190-3. PubMed ID: 16328537
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