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181 related items for PubMed ID: 19478356

  • 1. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
    Sethi SK, Singh N, Gil H, Bagga A.
    Indian Pediatr; 2009 May; 46(5):425-7. PubMed ID: 19478356
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  • 4. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
    Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y.
    J Laryngol Otol; 2008 Feb; 122(2):193-8. PubMed ID: 17669226
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  • 6. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
    Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S.
    Kidney Int; 2017 May; 91(5):1243-1255. PubMed ID: 28233610
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  • 7. Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.
    Kumar PS, Venkatesh K, Sowjenya G, Srikanth L, Sunitha MM, Prasad UV, Swarupa V, Yeswanth S, Naveen PS, Sridhar A, Kumar VS, Sarma PV.
    J Biomol Struct Dyn; 2015 May; 33(10):2094-103. PubMed ID: 25517796
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  • 9. ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.
    Dahmani M, Talbi S, Ammar-Khodja F, Ouhab S, Boudjenah F, Djebbar M, Bonnet C, Petit C.
    Int J Pediatr Otorhinolaryngol; 2020 Feb; 129():109772. PubMed ID: 31733597
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  • 11. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
    Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA.
    Clin Genet; 2013 Mar; 83(3):274-8. PubMed ID: 22509993
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  • 12. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
    Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE.
    J Med Genet; 2002 Nov; 39(11):796-803. PubMed ID: 12414817
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  • 13. Clinical and molecular aspects of distal renal tubular acidosis in children.
    Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D.
    Pediatr Nephrol; 2017 Jun; 32(6):987-996. PubMed ID: 28188436
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  • 14. ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
    Subasioglu Uzak A, Cakar N, Comak E, Yalcinkaya F, Tekin M.
    Ren Fail; 2013 Oct; 35(9):1281-4. PubMed ID: 23923981
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  • 15. Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.
    Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S.
    Nephrol Dial Transplant; 2009 Sep; 24(9):2734-8. PubMed ID: 19364879
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  • 16. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
    Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F.
    Pediatr Nephrol; 2003 Feb; 18(2):105-9. PubMed ID: 12579397
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  • 17. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
    Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, Ben Romdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castaño L, Haj Khelil A, Ariceta G.
    BMC Med Genet; 2013 Nov 20; 14():119. PubMed ID: 24252324
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  • 18. Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report.
    Sharifian M, Esfandiar N, Mazaheri S, Kariminejad A, Mohkam M, Dalirani R, Esmaili R, Ahmadi M, Hassas-Yeganeh M.
    Iran J Kidney Dis; 2010 Jul 20; 4(3):202-6. PubMed ID: 20622307
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  • 19. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
    Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC.
    Clin Genet; 2006 Feb 20; 69(2):135-44. PubMed ID: 16433694
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  • 20. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
    Mohebbi N, Wagner CA.
    J Nephrol; 2018 Aug 20; 31(4):511-522. PubMed ID: 28994037
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