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Journal Abstract Search

166 related items for PubMed ID: 16433694

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  • 3. 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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  • 4. 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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  • 5. Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
    Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, Deltas C.
    Nephron Clin Pract; 2011 Oct; 117(3):c206-12. PubMed ID: 20805693
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  • 6. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
    Mohebbi N, Wagner CA.
    J Nephrol; 2018 Aug; 31(4):511-522. PubMed ID: 28994037
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  • 8. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
    Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A.
    J Am Soc Nephrol; 2006 May; 17(5):1437-43. PubMed ID: 16611712
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  • 10. 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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  • 12. 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 20; 32(6):987-996. PubMed ID: 28188436
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  • 13. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
    Zhao X, Lu J, Gao Y, Wang X, Lang Y, Shao L.
    BMC Nephrol; 2018 Dec 17; 19(1):364. PubMed ID: 30558562
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  • 14. Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.
    Zhang R, Wang C, Lang Y, Gao Y, Chen Z, Lu J, Zhao X, Shao L.
    Genet Test Mol Biomarkers; 2018 Oct 17; 22(10):599-606. PubMed ID: 30256676
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  • 16. Treatment and long-term outcome in primary distal renal tubular acidosis.
    Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D, European dRTA Consortium, Kleta R, Schaefer F, Bockenhauer D.
    Nephrol Dial Transplant; 2019 Jun 01; 34(6):981-991. PubMed ID: 30773598
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  • 17. 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 01; 39(11):796-803. PubMed ID: 12414817
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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 01; 4(3):202-6. PubMed ID: 20622307
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