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Journal Abstract Search

159 related items for PubMed ID: 21479528

  • 1. Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
    Robitaille P, Merouani A, He N, Pei Y.
    Eur J Pediatr; 2011 Sep; 170(9):1209-11. PubMed ID: 21479528
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  • 2. 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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  • 3. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
    Rodríguez-Soriano J, Vallo A, Pérez de Nanclares G, Bilbao JR, Castaño L.
    Pediatr Nephrol; 2005 Jul; 20(7):891-6. PubMed ID: 15875219
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  • 4. 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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  • 10. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
    Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F.
    Kidney Int; 2003 Jan; 63(1):24-32. PubMed ID: 12472765
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  • 12. 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
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  • 13. 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
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  • 14. 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
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  • 15. A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
    Gorgojo JJ, Donnay S, Jeck N, Konrad M.
    Horm Res; 2006 Oct; 65(2):62-8. PubMed ID: 16391491
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  • 16. 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 13; 20(1):137. PubMed ID: 31409296
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  • 19. 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 23; 71(5):537-542. PubMed ID: 38508775
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  • 20. 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 23; 81(5):363-8. PubMed ID: 23110775
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