BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

483 related articles for article (PubMed ID: 32166738)

  • 1. Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
    Peces R; Mena R; Peces C; Cuesta E; Selgas R; Barruz P; Lapunzina P; Nevado J
    Clin Genet; 2020 Jun; 97(6):857-868. PubMed ID: 32166738
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
    Stiburkova B; Stekrova J; Nakamura M; Ichida K
    Am J Med Sci; 2015 Oct; 350(4):268-71. PubMed ID: 26418379
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
    Jeannin G; Chiarelli N; Gaggiotti M; Ritelli M; Maiorca P; Quinzani S; Verzeletti F; Possenti S; Colombi M; Cancarini G
    BMC Med Genet; 2014 Jan; 15():3. PubMed ID: 24397858
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.
    Furuto Y; Kawamura M; Namikawa A; Takahashi H; Shibuya Y; Mori T; Sohara E
    BMC Nephrol; 2019 Nov; 20(1):433. PubMed ID: 31771519
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation.
    Shima Y; Nozu K; Nozu Y; Togawa H; Kaito H; Matsuo M; Iijima K; Nakanishi K; Yoshikawa N
    Pediatrics; 2011 Jun; 127(6):e1621-5. PubMed ID: 21536615
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
    Alzahrani OR; Alatwi HE; Alharbi AA; Alessa AH; Al-Amer OM; Alanazi AFR; Shams AM; Alomari E; Naser AY; Alzahrani FA; Hosawi S; Alghamdi SM; Abdali WA; Elfaki I; Hawsawi YM
    Medicina (Kaunas); 2022 Nov; 58(11):. PubMed ID: 36422197
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
    Sekiya M; Matsuda T; Yamamoto Y; Furuta Y; Ohyama M; Murayama Y; Sugano Y; Ohsaki Y; Iwasaki H; Yahagi N; Yatoh S; Suzuki H; Shimano H
    BMC Med Genet; 2020 May; 21(1):91. PubMed ID: 32375679
    [TBL] [Abstract][Full Text] [Related]  

  • 8. URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
    Claverie-Martin F; Trujillo-Suarez J; Gonzalez-Acosta H; Aparicio C; Justa Roldan ML; Stiburkova B; Ichida K; Martín-Gomez MA; Herrero Goñi M; Carrasco Hidalgo-Barquero M; Iñigo V; Enriquez R; Cordoba-Lanus E; Garcia-Nieto VM;
    Clin Chim Acta; 2018 Jun; 481():83-89. PubMed ID: 29486147
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.
    Ranjzad F; Aghdami N; Tara A; Mohseni M; Moghadasali R; Basiri A
    Kidney Blood Press Res; 2018; 43(2):471-478. PubMed ID: 29590654
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.
    Windpessl M; Ritelli M; Wallner M; Colombi M
    Am J Nephrol; 2016; 43(4):245-50. PubMed ID: 27116386
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
    Mancikova A; Krylov V; Hurba O; Sebesta I; Nakamura M; Ichida K; Stiburkova B
    Clin Exp Nephrol; 2016 Aug; 20(4):578-584. PubMed ID: 26500098
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.
    Chiba T; Matsuo H; Nagamori S; Nakayama A; Kawamura Y; Shimizu S; Sakiyama M; Hosoyamada M; Kawai S; Okada R; Hamajima N; Kanai Y; Shinomiya N
    Nucleosides Nucleotides Nucleic Acids; 2014; 33(4-6):261-5. PubMed ID: 24940677
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
    Elisakova V; Merta M; Reiterova J; Baxova A; Kotlas J; Hirschfeldova K; Obeidova L; Tesar V; Stekrova J
    BMC Nephrol; 2018 Jul; 19(1):163. PubMed ID: 29973168
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
    Stiburkova B; Ichida K; Sebesta I
    Mol Genet Metab; 2011 Apr; 102(4):430-5. PubMed ID: 21256783
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.
    Shen H; Feng C; Jin X; Mao J; Fu H; Gu W; Liu A; Shu Q; Du L
    BMC Pediatr; 2014 Mar; 14():73. PubMed ID: 24628802
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
    Ali H; Hussain N; Naim M; Zayed M; Al-Mulla F; Kehinde EO; Seaburg LM; Sundsbak JL; Harris PC
    BMC Nephrol; 2015 Mar; 16():26. PubMed ID: 25880449
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel homozygous GLUT9 mutation cause recurrent exercise-induced acute renal failure and posterior reversible encephalopathy syndrome.
    Mou LJ; Jiang LP; Hu Y
    J Nephrol; 2015 Jun; 28(3):387-92. PubMed ID: 24643436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
    Cornec-Le Gall E; Audrézet MP; Renaudineau E; Hourmant M; Charasse C; Michez E; Frouget T; Vigneau C; Dantal J; Siohan P; Longuet H; Gatault P; Ecotière L; Bridoux F; Mandart L; Hanrotel-Saliou C; Stanescu C; Depraetre P; Gie S; Massad M; Kersalé A; Séret G; Augusto JF; Saliou P; Maestri S; Chen JM; Harris PC; Férec C; Le Meur Y
    Am J Kidney Dis; 2017 Oct; 70(4):476-485. PubMed ID: 28356211
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
    Dinour D; Gray NK; Ganon L; Knox AJ; Shalev H; Sela BA; Campbell S; Sawyer L; Shu X; Valsamidou E; Landau D; Wright AF; Holtzman EJ
    Nephrol Dial Transplant; 2012 Mar; 27(3):1035-41. PubMed ID: 21810765
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.
    Reiterová J; Štekrová J; Merta M; Kotlas J; Elišáková V; Lněnička P; Korabečná M; Kohoutová M; Tesař V
    BMC Nephrol; 2013 Mar; 14():59. PubMed ID: 23496908
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.