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Journal Abstract Search

283 related items for PubMed ID: 31395617

  • 1. ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
    Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Regeneron Genetics Center, Torres VE, Somlo S, Mirshahi T.
    J Am Soc Nephrol; 2019 Nov; 30(11):2091-2102. PubMed ID: 31395617
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
    Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R, Genomics England Research Consortium, Genkyst Study Group, Le Meur Y, Audrézet MP, Cornec-Le Gall E.
    Am J Hum Genet; 2022 Aug 04; 109(8):1484-1499. PubMed ID: 35896117
    [Abstract] [Full Text] [Related]

  • 4. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
    Alzahrani OR, Alatwi HE, Alharbi AA, Alessa AH, Al-Amer OM, Alanazi AFR, Shams AM, Alomari E, Naser AY, Alzahrani FA, Hosawi S, Alghamdi SM, Abdali WA, Elfaki I, Hawsawi YM.
    Medicina (Kaunas); 2022 Nov 16; 58(11):. PubMed ID: 36422197
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

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  • 9. Exome sequencing of Saudi Arabian patients with ADPKD.
    Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.
    Ren Fail; 2019 Nov 06; 41(1):842-849. PubMed ID: 31488014
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  • 11. Isolated polycystic liver disease genes define effectors of polycystin-1 function.
    Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.
    J Clin Invest; 2017 May 01; 127(5):1772-1785. PubMed ID: 28375157
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
    Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, 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; 2018 May 03; 102(5):832-844. PubMed ID: 29706351
    [Abstract] [Full Text] [Related]

  • 14. Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.
    Zhang W, Stephens CJ, Blumenfeld JD, Behzadi AH, Donahue S, Bobb WO, Newhouse JH, Rennert H, Zhao Y, Prince MR.
    J Magn Reson Imaging; 2019 Mar 03; 49(3):894-903. PubMed ID: 30230107
    [Abstract] [Full Text] [Related]

  • 15. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
    Cornec-Le Gall E, Torres VE, Harris PC.
    J Am Soc Nephrol; 2018 Jan 03; 29(1):13-23. PubMed ID: 29038287
    [Abstract] [Full Text] [Related]

  • 16. 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 03; 17(2):sfae026. PubMed ID: 38404363
    [Abstract] [Full Text] [Related]

  • 17. 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 03; 94(1):125-131. PubMed ID: 29520754
    [Abstract] [Full Text] [Related]

  • 18. Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.
    Ghosh Roy S, Li Z, Guo Z, Long KT, Rehrl S, Tian X, Dong K, Besse W.
    J Am Soc Nephrol; 2023 Sep 01; 34(9):1521-1534. PubMed ID: 37332102
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 35(2):645-652. PubMed ID: 34357571
    [Abstract] [Full Text] [Related]

  • 20. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
    Kim JA, Blumenfeld JD, Chhabra S, Dutruel SP, Thimmappa ND, Bobb WO, Donahue S, Rennert HE, Tan AY, Giambrone AE, Prince MR.
    Radiology; 2016 Sep 01; 280(3):762-70. PubMed ID: 27046073
    [Abstract] [Full Text] [Related]

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