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 *

239 related articles for article (PubMed ID: 17669226)

  • 1. 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]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
    Boualla L; Jdioui W; Soulami K; Ratbi I; Sefiani A
    Curr Res Transl Med; 2016; 64(1):5-8. PubMed ID: 27140593
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
    Gao Y; Xu Y; Li Q; Lang Y; Dong Q; Shao L
    Ren Fail; 2014 Sep; 36(8):1226-32. PubMed ID: 24975934
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 4(3):202-6. PubMed ID: 20622307
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 19(1):364. PubMed ID: 30558562
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.
    Ay E; Gurses E; Aslan F; Gulhan B; Alniacik A; Duzova A; Bajin MD; Sennaroglu L; Genc GA; Ozaltin F; Topaloglu R
    Audiol Neurootol; 2023; 28(5):350-359. PubMed ID: 37121229
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.
    Andreucci E; Bianchi B; Carboni I; Lavoratti G; Mortilla M; Fonda C; Bigozzi M; Genuardi M; Giglio S; Pela I
    Pediatr Nephrol; 2009 Nov; 24(11):2147-53. PubMed ID: 19639346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 14():119. PubMed ID: 24252324
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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; 33(10):2094-103. PubMed ID: 25517796
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
    Park E; Cho MH; Hyun HS; Shin JI; Lee JH; Park YS; Choi HJ; Kang HG; Cheong HI
    Kidney Blood Press Res; 2018; 43(2):513-521. PubMed ID: 29627839
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.