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131 related items for PubMed ID: 38101549

  • 1. 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
    [Abstract] [Full Text] [Related]

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

  • 3. Somatic second-hit mutations leads to polycystic liver diseases.
    Banales JM, Munoz-Garrido P, Bujanda L.
    World J Gastroenterol; 2013 Jan 07; 19(1):141-3. PubMed ID: 23326178
    [Abstract] [Full Text] [Related]

  • 4. Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
    Cnossen WR, Maurits JS, Salomon J, Te Morsche RH, Waanders E, Drenth JP.
    J Clin Lab Anal; 2016 Sep 07; 30(5):431-6. PubMed ID: 26365003
    [Abstract] [Full Text] [Related]

  • 5. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
    Waanders E, te Morsche RH, de Man RA, Jansen JB, Drenth JP.
    Hum Mutat; 2006 Aug 07; 27(8):830. PubMed ID: 16835903
    [Abstract] [Full Text] [Related]

  • 6. Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
    Waanders E, Croes HJ, Maass CN, te Morsche RH, van Geffen HJ, van Krieken JH, Fransen JA, Drenth JP.
    Histochem Cell Biol; 2008 Mar 07; 129(3):301-10. PubMed ID: 18224332
    [Abstract] [Full Text] [Related]

  • 7. Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
    Wills ES, Cnossen WR, Veltman JA, Woestenenk R, Steehouwer M, Salomon J, Te Morsche RH, Huch M, Hehir-Kwa JY, Banning MJ, Pfundt R, Roepman R, Hoischen A, Drenth JP.
    Eur J Hum Genet; 2016 Dec 07; 24(12):1707-1714. PubMed ID: 27552964
    [Abstract] [Full Text] [Related]

  • 8. Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry.
    van Aerts RMM, Kievit W, de Jong ME, Ahn C, Bañales JM, Reiterová J, Nevens F, Drenth JPH.
    Liver Int; 2019 Mar 07; 39(3):575-582. PubMed ID: 30225933
    [Abstract] [Full Text] [Related]

  • 9. Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.
    Janssen MJ, Salomon J, Te Morsche RH, Drenth JP.
    PLoS One; 2012 Mar 07; 7(11):e50324. PubMed ID: 23209713
    [Abstract] [Full Text] [Related]

  • 10. Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
    Wills ES, Te Morsche RHM, van Reeuwijk J, Horn N, Geomini I, van de Laarschot LFM, Mans DA, Ueffing M, Boldt K, Drenth JPH, Roepman R.
    Hum Mol Genet; 2017 Nov 01; 26(21):4190-4202. PubMed ID: 28973524
    [Abstract] [Full Text] [Related]

  • 11. Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.
    Janssen MJ, Waanders E, Te Morsche RH, Xing R, Dijkman HB, Woudenberg J, Drenth JP.
    Gastroenterology; 2011 Dec 01; 141(6):2056-2063.e2. PubMed ID: 21856269
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
    Drenth JP, Tahvanainen E, te Morsche RH, Tahvanainen P, Kääriäinen H, Höckerstedt K, van de Kamp JM, Breuning MH, Jansen JB.
    Hepatology; 2004 Apr 01; 39(4):924-31. PubMed ID: 15057895
    [Abstract] [Full Text] [Related]

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  • 15. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 17. Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
    Waanders E, Venselaar H, te Morsche RH, de Koning DB, Kamath PS, Torres VE, Somlo S, Drenth JP.
    Clin Genet; 2010 Jul 02; 78(1):47-56. PubMed ID: 20095989
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  • 19. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.
    Cnossen WR, Drenth JP.
    Orphanet J Rare Dis; 2014 May 01; 9():69. PubMed ID: 24886261
    [Abstract] [Full Text] [Related]

  • 20. Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
    Zingg-Schenk A, Caduff J, Azzarello-Burri S, Bergmann C, Drenth JP, Neuhaus TJ.
    Pediatr Nephrol; 2012 Jul 01; 27(7):1197-200. PubMed ID: 22415584
    [Abstract] [Full Text] [Related]

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