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Journal Abstract Search

218 related items for PubMed ID: 38097330

  • 1. Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
    Yang H, Sieben CJ, Schauer RS, Harris PC.
    Adv Kidney Dis Health; 2023 Sep; 30(5):397-406. PubMed ID: 38097330
    [Abstract] [Full Text] [Related]

  • 2. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
    Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Harris PC.
    Am J Hum Genet; 2022 Jan 06; 109(1):136-156. PubMed ID: 34890546
    [Abstract] [Full Text] [Related]

  • 3. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
    Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC.
    Am J Hum Genet; 2016 Jun 02; 98(6):1193-1207. PubMed ID: 27259053
    [Abstract] [Full Text] [Related]

  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Harris PC, Torres VE.
    ; 1993 Jun 02. PubMed ID: 20301424
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  • 5. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
    Ciantar N, Zahra G, Delicata J, Sammut F, Calleja-Agius J, Farrugia E, Said E.
    Eur J Med Genet; 2024 Jun 02; 69():104934. PubMed ID: 38537868
    [Abstract] [Full Text] [Related]

  • 6. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
    Cornec-Le Gall E, Torres VE, Harris PC.
    J Am Soc Nephrol; 2018 Jan 02; 29(1):13-23. PubMed ID: 29038287
    [Abstract] [Full Text] [Related]

  • 7. Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest.
    Bergmann C.
    Nephron; 2019 Jan 02; 141(1):50-60. PubMed ID: 30359986
    [Abstract] [Full Text] [Related]

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  • 9. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.
    Mahboobipour AA, Ala M, Safdari Lord J, Yaghoobi A.
    Orphanet J Rare Dis; 2024 Apr 26; 19(1):175. PubMed ID: 38671465
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  • 11. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
    Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F.
    Pediatr Nephrol; 2019 Sep 26; 34(9):1615-1623. PubMed ID: 31079206
    [Abstract] [Full Text] [Related]

  • 12. Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
    Delbarba E, Econimo L, Dordoni C, Martin E, Mazza C, Savoldi G, Alberici F, Scolari F, Izzi C.
    J Nephrol; 2022 Mar 26; 35(2):645-652. PubMed ID: 34357571
    [Abstract] [Full Text] [Related]

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  • 15. Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.
    Olson RJ, Hopp K, Wells H, Smith JM, Furtado J, Constans MM, Escobar DL, Geurts AM, Torres VE, Harris PC.
    J Am Soc Nephrol; 2019 Nov 26; 30(11):2113-2127. PubMed ID: 31427367
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  • 17. Autosomal recessive and dominant polycystic kidney diseases.
    Sessa A, Righetti M, Battini G.
    Minerva Urol Nefrol; 2004 Dec 26; 56(4):329-38. PubMed ID: 15785425
    [Abstract] [Full Text] [Related]

  • 18. Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
    Mantovani V, Bin S, Graziano C, Capelli I, Minardi R, Aiello V, Ambrosini E, Cristalli CP, Mattiaccio A, Pariali M, De Fanti S, Faletra F, Grosso E, Cantone R, Mancini E, Mencarelli F, Pasini A, Wischmeijer A, Sciascia N, Seri M, La Manna G.
    Front Genet; 2020 Dec 26; 11():464. PubMed ID: 32457805
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  • 20. Autophagy-mediated reduction of miR-345 contributes to hepatic cystogenesis in polycystic liver disease.
    Masyuk T, Masyuk A, Trussoni C, Howard B, Ding J, Huang B, LaRusso N.
    JHEP Rep; 2021 Oct 26; 3(5):100345. PubMed ID: 34568801
    [Abstract] [Full Text] [Related]

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