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Journal Abstract Search

224 related items for PubMed ID: 16328537

  • 1. 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
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  • 2. 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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  • 4. 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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  • 6. A case of antenatal Bartter syndrome with sensorineural deafness.
    Lee HS, Cheong HI, Ki CS.
    J Pediatr Endocrinol Metab; 2010 Oct; 23(10):1077-81. PubMed ID: 21158220
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  • 7. 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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  • 8. Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.
    Elrharchi S, Riahi Z, Salime S, Nahili H, Rouba H, Kabine M, Bonnet C, Petit C, Barakat A.
    Int J Pediatr Otorhinolaryngol; 2018 Oct; 113():46-50. PubMed ID: 30174009
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  • 10. Type IV Bartter syndrome: report of two new cases.
    Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F.
    Pediatr Nephrol; 2006 Jun; 21(6):766-70. PubMed ID: 16583241
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  • 12. 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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  • 18. 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
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  • 19. 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 01; 315(4):F844-F851. PubMed ID: 29442545
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  • 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 01; 54(6):102859. PubMed ID: 37516009
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