These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

334 related articles for article (PubMed ID: 12414817)

  • 21. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 22. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child.
    Hahn H; Kang HG; Ha IS; Cheong HI; Choi Y
    Am J Kidney Dis; 2003 Jan; 41(1):238-43. PubMed ID: 12500243
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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; 69(2):135-44. PubMed ID: 16433694
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
    Karet FE; Finberg KE; Nelson RD; Nayir A; Mocan H; Sanjad SA; Rodriguez-Soriano J; Santos F; Cremers CW; Di Pietro A; Hoffbrand BI; Winiarski J; Bakkaloglu A; Ozen S; Dusunsel R; Goodyer P; Hulton SA; Wu DK; Skvorak AB; Morton CC; Cunningham MJ; Jha V; Lifton RP
    Nat Genet; 1999 Jan; 21(1):84-90. PubMed ID: 9916796
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
    Kose E; Sirin Kose S; Alparslan C; Kasap Demir B; Berdeli A; Mutlubas Ozsan F; Yavascan O; Aksu N
    Ren Fail; 2014 Jun; 36(5):808-10. PubMed ID: 24564331
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
    Borthwick KJ; Kandemir N; Topaloglu R; Kornak U; Bakkaloglu A; Yordam N; Ozen S; Mocan H; Shah GN; Sly WS; Karet FE
    J Med Genet; 2003 Feb; 40(2):115-21. PubMed ID: 12566520
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
    Escobar LI; Simian C; Treard C; Hayek D; Salvador C; Guerra N; Matos M; Medeiros M; Enciso S; Camargo MD; Vargas-Poussou R
    Mol Genet Genomic Med; 2016 May; 4(3):303-11. PubMed ID: 27247958
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.
    Li X; Chai Y; Tao Z; Li L; Huang Z; Li Y; Wu H; Yang T
    Int J Pediatr Otorhinolaryngol; 2012 Jan; 76(1):152-4. PubMed ID: 22093743
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
    Pereira PC; Melo FM; De Marco LA; Oliveira EA; Miranda DM; Simões e Silva AC
    J Pediatr (Rio J); 2015; 91(6):583-9. PubMed ID: 26208211
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.
    Norgett EE; Golder ZJ; Lorente-Cánovas B; Ingham N; Steel KP; Karet Frankl FE
    Proc Natl Acad Sci U S A; 2012 Aug; 109(34):13775-80. PubMed ID: 22872862
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.
    Anupama PH; Abraham G; Shanmugasundaram L; Anupama SH
    Saudi J Kidney Dis Transpl; 2019; 30(6):1442-1446. PubMed ID: 31929293
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Primary distal renal tubular acidosis].
    Bouzidi H; Daudon M; Najjar MF
    Ann Biol Clin (Paris); 2009; 67(2):135-40. PubMed ID: 19297287
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis.
    Smith AN; Borthwick KJ; Karet FE
    Gene; 2002 Sep; 297(1-2):169-77. PubMed ID: 12384298
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
    Tian C; Gagnon LH; Longo-Guess C; Korstanje R; Sheehan SM; Ohlemiller KK; Schrader AD; Lett JM; Johnson KR
    Hum Mol Genet; 2017 Oct; 26(19):3722-3735. PubMed ID: 28934385
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.
    Gómez-Conde S; García-Castaño A; Aguirre M; Herrero M; Gondra L; García-Pérez N; García-Ledesma P; Martín-Penagos L; Dall'Anese C; Ariceta G; Castaño L; Madariaga L
    Pediatr Nephrol; 2021 Oct; 36(10):3133-3142. PubMed ID: 33881640
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.
    Karet FE; Finberg KE; Nayir A; Bakkaloglu A; Ozen S; Hulton SA; Sanjad SA; Al-Sabban EA; Medina JF; Lifton RP
    Am J Hum Genet; 1999 Dec; 65(6):1656-65. PubMed ID: 10577919
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
    Nagara M; Voskarides K; Nouira S; Ben Halim N; Kefi R; Aloulou H; Romdhane L; Ben Abdallah R; Ben Rhouma F; Aissa K; Boughamoura L; Kammoun T; Azzouz H; Abroug S; Ben Turkia H; Ayadi A; Mrad R; Chabchoub I; Hachicha M; Chemli J; Deltas C; Abdelhak S
    Genet Test Mol Biomarkers; 2014 Nov; 18(11):741-8. PubMed ID: 25285676
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.