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Journal Abstract Search

270 related items for PubMed ID: 36246085

  • 1. Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
    Sierks D, Schönauer R, Friedrich A, Hantmann E, de Fallois J, Linder N, Fischer J, Herber A, Bergmann C, Berg T, Halbritter J.
    JHEP Rep; 2022 Nov; 4(11):100579. PubMed ID: 36246085
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  • 3. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
    Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA, Genomics England Research Consortium, Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J.
    Gastroenterology; 2024 May; 166(5):902-914. PubMed ID: 38101549
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  • 4. 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
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  • 8. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
    Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T.
    JAMA; 2022 Dec 27; 328(24):2412-2421. PubMed ID: 36573973
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  • 12. Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
    Suzuki Y, Katayama K, Saiki R, Hirabayashi Y, Murata T, Ishikawa E, Ito M, Dohi K.
    Genes (Basel); 2023 Feb 09; 14(2):. PubMed ID: 36833371
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  • 13. 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 09; 35(2):645-652. PubMed ID: 34357571
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  • 14. 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 09; 3(5):100345. PubMed ID: 34568801
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  • 15. Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.
    Dordoni C, Zeni L, Toso D, Mazza C, Mescia F, Cortinovis R, Econimo L, Savoldi G, Alberici F, Scolari F, Izzi C.
    Clin Kidney J; 2024 Feb 09; 17(2):sfae026. PubMed ID: 38404363
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  • 16. Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.
    Boerrigter MM, Duijzer R, Te Morsche RHM, Drenth JPH.
    Genes (Basel); 2023 Sep 02; 14(9):. PubMed ID: 37761895
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  • 17. Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
    Lanktree MB, Haghighi A, Guiard E, Iliuta IA, Song X, Harris PC, Paterson AD, Pei Y.
    J Am Soc Nephrol; 2018 Oct 02; 29(10):2593-2600. PubMed ID: 30135240
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  • 18. 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
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  • 19. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
    Cornec-Le Gall E, Torres VE, Harris PC.
    J Am Soc Nephrol; 2018 Jan 07; 29(1):13-23. PubMed ID: 29038287
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