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Journal Abstract Search

270 related items for PubMed ID: 36246085

  • 21. 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
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  • 22. Bacterial Cholangitis in Autosomal Dominant Polycystic Kidney and Liver Disease.
    Martin WP, Vaughan LE, Yoshida K, Takahashi N, Edwards ME, Metzger A, Senum SR, Masyuk TV, LaRusso NF, Griffin MD, El-Zoghby Z, Harris PC, Kremers WK, Nagorney DM, Kamath PS, Torres VE, Hogan MC.
    Mayo Clin Proc Innov Qual Outcomes; 2019 Jun 06; 3(2):149-159. PubMed ID: 31193902
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  • 23. The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.
    Xue C, Zhou CC, Wu M, Mei CL.
    Kidney Dis (Basel); 2016 Oct 06; 2(3):111-119. PubMed ID: 27921038
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  • 26. Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease.
    Kataoka H, Watanabe S, Sato M, Manabe S, Makabe S, Akihisa T, Ushio Y, Iwasa N, Yoshida R, Tsuchiya K, Nitta K, Mochizuki T.
    Hepatol Int; 2021 Jun 06; 15(3):791-803. PubMed ID: 33811288
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  • 28. Molecular Mechanisms of Isolated Polycystic Liver Diseases.
    Yu Z, Shen X, Hu C, Zeng J, Wang A, Chen J.
    Front Genet; 2022 Jun 06; 13():846877. PubMed ID: 35571028
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  • 31. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
    Abdelwahed M, Hilbert P, Ahmed A, Mahfoudh H, Bouomrani S, Dey M, Hachicha J, Kamoun H, Keskes-Ammar L, Belguith N.
    Gene; 2018 Sep 10; 671():28-35. PubMed ID: 29860066
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  • 33. 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 10; 27(9):2872-84. PubMed ID: 26823553
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  • 34. Ursodeoxycholic acid in advanced polycystic liver disease: A phase 2 multicenter randomized controlled trial.
    D'Agnolo HM, Kievit W, Takkenberg RB, Riaño I, Bujanda L, Neijenhuis MK, Brunenberg EJ, Beuers U, Banales JM, Drenth JP.
    J Hepatol; 2016 Sep 10; 65(3):601-7. PubMed ID: 27212247
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  • 38. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.
    Peces R, Drenth JP, Te Morsche RH, González P, Peces C.
    World J Gastroenterol; 2005 Dec 28; 11(48):7690-3. PubMed ID: 16437702
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  • 40. Liver involvement in early autosomal-dominant polycystic kidney disease.
    Hogan MC, Abebe K, Torres VE, Chapman AB, Bae KT, Tao C, Sun H, Perrone RD, Steinman TI, Braun W, Winklhofer FT, Miskulin DC, Rahbari-Oskoui F, Brosnahan G, Masoumi A, Karpov IO, Spillane S, Flessner M, Moore CG, Schrier RW.
    Clin Gastroenterol Hepatol; 2015 Jan 28; 13(1):155-64.e6. PubMed ID: 25111236
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