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Journal Abstract Search

194 related items for PubMed ID: 20807608

  • 21. Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
    Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC, HALT PKD and CRISP Investigators.
    J Am Soc Nephrol; 2016 Sep; 27(9):2872-84. PubMed ID: 26823553
    [Abstract] [Full Text] [Related]

  • 22. 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 01; 16():26. PubMed ID: 25880449
    [Abstract] [Full Text] [Related]

  • 23. PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
    Ali H, Al-Mulla F, Hussain N, Naim M, Asbeutah AM, AlSahow A, Abu-Farha M, Abubaker J, Al Madhoun A, Ahmad S, Harris PC.
    Sci Rep; 2019 Mar 11; 9(1):4141. PubMed ID: 30858458
    [Abstract] [Full Text] [Related]

  • 24. Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
    Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N.
    Gene; 2022 Apr 05; 817():146174. PubMed ID: 35031424
    [Abstract] [Full Text] [Related]

  • 25. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
    Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.
    BMC Med Genet; 2006 Jan 23; 7():6. PubMed ID: 16430766
    [Abstract] [Full Text] [Related]

  • 26. Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
    Arora V, Bijarnia-Mahay S, Tiwari V, Bansal S, Gupta P, Setia N, Puri RD, Verma IC.
    Eur J Med Genet; 2020 Mar 23; 63(3):103734. PubMed ID: 31349084
    [Abstract] [Full Text] [Related]

  • 27. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.
    Chebib FT, Jung Y, Heyer CM, Irazabal MV, Hogan MC, Harris PC, Torres VE, El-Zoghby ZM.
    Nephrol Dial Transplant; 2016 Jun 23; 31(6):952-60. PubMed ID: 26932689
    [Abstract] [Full Text] [Related]

  • 28. Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.
    Fujimaru T, Mori T, Sekine A, Mandai S, Chiga M, Kikuchi H, Ando F, Mori Y, Nomura N, Iimori S, Naito S, Okado T, Rai T, Hoshino J, Ubara Y, Uchida S, Sohara E.
    Clin Genet; 2018 Jul 23; 94(1):125-131. PubMed ID: 29520754
    [Abstract] [Full Text] [Related]

  • 29. Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case.
    Bodard S, Nabbout R, Hélénon O, Knebelmann B.
    BMC Nephrol; 2024 Sep 30; 25(1):325. PubMed ID: 39350077
    [Abstract] [Full Text] [Related]

  • 30. Type identification of autosomal dominant polycystic kidney disease by analysis of fluorescent short tandem repeat markers.
    Lin WD, Wu JY, Tsai FJ, Gau MT, Lee CC.
    J Formos Med Assoc; 2002 Aug 30; 101(8):567-71. PubMed ID: 12440087
    [Abstract] [Full Text] [Related]

  • 31. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
    Torra R, Badenas C, Pérez-Oller L, Luis J, Millán S, Nicolau C, Oppenheimer F, Milà M, Darnell A.
    Am J Kidney Dis; 2000 Oct 30; 36(4):728-34. PubMed ID: 11007674
    [Abstract] [Full Text] [Related]

  • 32. Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
    Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC.
    Kidney Int; 2014 Feb 30; 85(2):383-92. PubMed ID: 23760289
    [Abstract] [Full Text] [Related]

  • 33. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
    Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.
    Sci Rep; 2016 Aug 08; 6():30850. PubMed ID: 27499327
    [Abstract] [Full Text] [Related]

  • 34. Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.
    Fencl F, Janda J, Bláhová K, Hríbal Z, Stekrová J, Puchmajerová A, Seeman T.
    Pediatr Nephrol; 2009 May 08; 24(5):983-9. PubMed ID: 19194729
    [Abstract] [Full Text] [Related]

  • 35. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
    Boucher C, Sandford R.
    Eur J Hum Genet; 2004 May 08; 12(5):347-54. PubMed ID: 14872199
    [Abstract] [Full Text] [Related]

  • 36. Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
    Cornec-Le Gall E, Audrézet MP, Le Meur Y, Chen JM, Férec C.
    Hum Mutat; 2014 Dec 08; 35(12):1393-406. PubMed ID: 25263802
    [Abstract] [Full Text] [Related]

  • 37. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
    Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, Pei Y, Germino GG, Watnick TJ.
    Mol Genet Metab; 2007 Dec 08; 92(1-2):160-7. PubMed ID: 17574468
    [Abstract] [Full Text] [Related]

  • 38. Molecular genetics of autosomal dominant polycystic kidney disease.
    Pei Y.
    Clin Invest Med; 2003 Oct 08; 26(5):252-8. PubMed ID: 14596487
    [Abstract] [Full Text] [Related]

  • 39. Growth Pattern of Kidney Cyst Number and Volume in Autosomal Dominant Polycystic Kidney Disease.
    Bae KT, Zhou W, Shen C, Landsittel DP, Wu Z, Tao C, Chapman AB, Torres VE, Yu ASL, Mrug M, Bennett WM, Harris PC, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP).
    Clin J Am Soc Nephrol; 2019 Jun 07; 14(6):823-833. PubMed ID: 31088850
    [Abstract] [Full Text] [Related]

  • 40. Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.
    Tan YC, Blumenfeld J, Rennert H.
    Biochim Biophys Acta; 2011 Oct 07; 1812(10):1202-12. PubMed ID: 21392578
    [Abstract] [Full Text] [Related]

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