BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 29725771)

  • 1. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
    Alonso-Varela M; Gil-Peña H; Coto E; Gómez J; Rodríguez J; Rodríguez-Rubio E; Santos F;
    Pediatr Nephrol; 2018 Sep; 33(9):1523-1529. PubMed ID: 29725771
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
    Liu J; Shen Q; Li G; Zhai Y; Fang X; Xu H
    Ren Fail; 2018 Nov; 40(1):520-526. PubMed ID: 30230413
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Genotype-phenotype analysis and prognosis in children with primary distal renal tubular acidosis].
    Jiang YR; Wang M; Wan JL; Zhang GF; Yang HP; Li Q
    Zhonghua Er Ke Za Zhi; 2022 Jul; 60(7):700-705. PubMed ID: 35768359
    [No 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

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

  • 12. 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; 22(10):599-606. PubMed ID: 30256676
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
    Miura K; Sekine T; Takahashi K; Takita J; Harita Y; Ohki K; Park MJ; Hayashi Y; Tajima A; Ishihara M; Hisano M; Murai M; Igarashi T
    Nephrol Dial Transplant; 2013 Aug; 28(8):2123-30. PubMed ID: 23729491
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
    Guo W; Song Q; Zhang R; Xin Q; Liu Z; Lang Y; Zhao X; Shao L
    Clin Genet; 2021 Oct; 100(4):440-446. PubMed ID: 34159584
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
    Hammi Y; Charfi H; Ferjani M; Sayari T; Mrad R; Gargah T
    Tunis Med; 2023; 101(8-9):704-708. PubMed ID: 38445406
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.
    Zeinali F; Mohseni M; Fadaee M; Fattahi Z; Najmabadi H; Otukesh H; Kahrizi K
    J Laryngol Otol; 2014 Dec; 128(12):1056-9. PubMed ID: 25498251
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.