BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 32451462)

  • 21. Autosomal Dominant Tubulointerstitial Kidney Disease.
    Bleyer AJ; Kidd K; Živná M; Kmoch S
    Adv Chronic Kidney Dis; 2017 Mar; 24(2):86-93. PubMed ID: 28284384
    [TBL] [Abstract][Full Text] [Related]  

  • 22. UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
    Yang J; Zhang Y; Zhou J
    BMC Pediatr; 2019 May; 19(1):145. PubMed ID: 31068150
    [TBL] [Abstract][Full Text] [Related]  

  • 23. From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
    Venkat-Raman G; Gast C; Marinaki A; Fairbanks L
    Pediatr Nephrol; 2016 Nov; 31(11):2035-42. PubMed ID: 26872483
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
    Ekici AB; Hackenbeck T; Morinière V; Pannes A; Buettner M; Uebe S; Janka R; Wiesener A; Hermann I; Grupp S; Hornberger M; Huber TB; Isbel N; Mangos G; McGinn S; Soreth-Rieke D; Beck BB; Uder M; Amann K; Antignac C; Reis A; Eckardt KU; Wiesener MS
    Kidney Int; 2014 Sep; 86(3):589-99. PubMed ID: 24670410
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Hypoxia controls expression of kidney-pathogenic
    Naas S; Krüger R; Knaup KX; Naas J; Grampp S; Schiffer M; Wiesener M; Schödel J
    Life Sci Alliance; 2023 Sep; 6(9):. PubMed ID: 37316299
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
    Kirby A; Gnirke A; Jaffe DB; Barešová V; Pochet N; Blumenstiel B; Ye C; Aird D; Stevens C; Robinson JT; Cabili MN; Gat-Viks I; Kelliher E; Daza R; DeFelice M; Hůlková H; Sovová J; Vylet'al P; Antignac C; Guttman M; Handsaker RE; Perrin D; Steelman S; Sigurdsson S; Scheinman SJ; Sougnez C; Cibulskis K; Parkin M; Green T; Rossin E; Zody MC; Xavier RJ; Pollak MR; Alper SL; Lindblad-Toh K; Gabriel S; Hart PS; Regev A; Nusbaum C; Kmoch S; Bleyer AJ; Lander ES; Daly MJ
    Nat Genet; 2013 Mar; 45(3):299-303. PubMed ID: 23396133
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.
    Tao T; Yang Y; Hu Z
    Medicine (Baltimore); 2020 Jul; 99(31):e21438. PubMed ID: 32756155
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.
    Gong K; Xia M; Wang Y; Wang N; Liu Y; Zhang VW; Cheng H; Chen Y
    Sci Rep; 2021 Feb; 11(1):3615. PubMed ID: 33574344
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies.
    Dvela-Levitt M; Shaw JL; Greka A
    Trends Mol Med; 2021 Apr; 27(4):394-409. PubMed ID: 33341352
    [TBL] [Abstract][Full Text] [Related]  

  • 30. VNtyper enables accurate alignment-free genotyping of
    Saei H; Morinière V; Heidet L; Gribouval O; Lebbah S; Tores F; Mautret-Godefroy M; Knebelmann B; Burtey S; Vuiblet V; Antignac C; Nitschké P; Dorval G
    iScience; 2023 Jul; 26(7):107171. PubMed ID: 37456840
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
    Zhang M; Liu S; Xia X; Cui Y; Li X
    Nephrology (Carlton); 2019 May; 24(5):504-510. PubMed ID: 29633482
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Autosomal dominant tubulointerstitial kidney disease: A review.
    Živná M; Kidd KO; Barešová V; Hůlková H; Kmoch S; Bleyer AJ
    Am J Med Genet C Semin Med Genet; 2022 Sep; 190(3):309-324. PubMed ID: 36250282
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing.
    LaFavers KA; El-Achkar TM
    Kidney Int; 2020 Sep; 98(3):549-552. PubMed ID: 32828237
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
    de Haan A; van Eerde AM; Eijgelsheim M; Rump P; van der Zwaag B; Hennekam E; Živná M; Kmoch S; Bleyer AJ; Kidd K; Vogt L; Knoers NVAM; de Borst MH
    Kidney Int; 2023 May; 103(5):986-989. PubMed ID: 37085259
    [No Abstract]   [Full Text] [Related]  

  • 35. Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease.
    Liu J; Li L; Liu Q
    Int J Clin Exp Pathol; 2015; 8(10):13289-92. PubMed ID: 26722532
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.
    Raffler G; Zitt E; Sprenger-Mähr H; Nagel M; Lhotta K
    Wien Klin Wochenschr; 2016 Apr; 128(7-8):291-4. PubMed ID: 26810206
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
    Qi XP; Du ZF; Ma JM; Chen XL; Zhang Q; Fei J; Wei XM; Chen D; Ke HP; Liu XZ; Li F; Chen ZG; Su Z; Jin HY; Liu WT; Zhao Y; Jiang HL; Lan ZZ; Li PF; Fang MY; Dong W; Zhang XN
    Gene; 2013 Mar; 516(1):93-100. PubMed ID: 23266634
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify
    Fages V; Bourre F; Larrue R; Wenzel A; Gibier JB; Bonte F; Dhaenens CM; Kidd K; Kmoch S; Bleyer A; Glowacki F; Grunewald O
    Kidney Int Rep; 2024 May; 9(5):1451-1457. PubMed ID: 38707821
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
    Xu P; Huang S; Li J; Zou Y; Gao M; Kang R; Yan J; Gao X; Gao Y
    BMC Med Genet; 2018 Nov; 19(1):198. PubMed ID: 30424739
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
    Blumenstiel B; DeFelice M; Birsoy O; Bleyer AJ; Kmoch S; Carter TA; Gnirke A; Kidd K; Rehm HL; Ronco L; Lander ES; Gabriel S; Lennon NJ
    J Mol Diagn; 2016 Jul; 18(4):566-71. PubMed ID: 27157321
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.