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Journal Abstract Search

166 related items for PubMed ID: 11093741

  • 1. A missense mutation in FIC1 is associated with greenland familial cholestasis.
    Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH.
    Hepatology; 2000 Dec; 32(6):1337-41. PubMed ID: 11093741
    [Abstract] [Full Text] [Related]

  • 2. Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
    Colombo C, Okolicsanyi L, Strazzabosco M.
    Dig Liver Dis; 2000 Mar; 32(2):152-9. PubMed ID: 10975791
    [Abstract] [Full Text] [Related]

  • 3. Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study.
    Nielsen IM, Eiberg H.
    Int J Circumpolar Health; 2004 Mar; 63 Suppl 2():192-4. PubMed ID: 15736650
    [Abstract] [Full Text] [Related]

  • 4. Geographical clustering and maintained health in individuals harbouring the mutation for Greenland familial cholestasis: A population-based study.
    Andersen S, Okkels H, Krarup H, Laurberg P.
    Scand J Gastroenterol; 2006 Apr; 41(4):445-50. PubMed ID: 16635913
    [Abstract] [Full Text] [Related]

  • 5. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
    Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V.
    J Hepatol; 2017 Dec; 67(6):1253-1264. PubMed ID: 28733223
    [Abstract] [Full Text] [Related]

  • 6. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.
    Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, Bernard O, Jacquemin E.
    J Hepatol; 2003 Sep; 39(3):447-52. PubMed ID: 12927934
    [Abstract] [Full Text] [Related]

  • 7. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
    Deng BC, Lv S, Cui W, Zhao R, Lu X, Wu J, Liu P.
    World J Gastroenterol; 2012 Nov 28; 18(44):6504-9. PubMed ID: 23197899
    [Abstract] [Full Text] [Related]

  • 8. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte.
    Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, Berger R, Houwen RH, Klomp LW.
    J Hepatol; 2001 Oct 28; 35(4):436-43. PubMed ID: 11682026
    [Abstract] [Full Text] [Related]

  • 9. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
    Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB.
    Nat Genet; 1998 Mar 28; 18(3):219-24. PubMed ID: 9500542
    [Abstract] [Full Text] [Related]

  • 10. Progressive familial intrahepatic cholestasis.
    Jacquemin E.
    Clin Res Hepatol Gastroenterol; 2012 Sep 28; 36 Suppl 1():S26-35. PubMed ID: 23141890
    [Abstract] [Full Text] [Related]

  • 11. Linkage of Cholestasis Familiaris Groenlandica/Byler-like disease to chromosome 18.
    Eiberg H, Nielsen IM.
    Int J Circumpolar Health; 2000 Jan 28; 59(1):57-62. PubMed ID: 10850008
    [Abstract] [Full Text] [Related]

  • 12. FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
    van Mil SW, Klomp LW, Bull LN, Houwen RH.
    Semin Liver Dis; 2001 Nov 28; 21(4):535-44. PubMed ID: 11745041
    [Abstract] [Full Text] [Related]

  • 13. Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
    Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN.
    Hepatology; 2004 Jul 28; 40(1):27-38. PubMed ID: 15239083
    [Abstract] [Full Text] [Related]

  • 14. Progressive familial intrahepatic cholestasis.
    Srivastava A.
    J Clin Exp Hepatol; 2014 Mar 28; 4(1):25-36. PubMed ID: 25755532
    [Abstract] [Full Text] [Related]

  • 15. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
    Folmer DE, van der Mark VA, Ho-Mok KS, Oude Elferink RP, Paulusma CC.
    Hepatology; 2009 Nov 28; 50(5):1597-605. PubMed ID: 19731236
    [Abstract] [Full Text] [Related]

  • 16. Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
    Harris MJ, Le Couteur DG, Arias IM.
    J Gastroenterol Hepatol; 2005 Jun 28; 20(6):807-17. PubMed ID: 15946126
    [Abstract] [Full Text] [Related]

  • 17. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.
    Alvarez L, Jara P, Sánchez-Sabaté E, Hierro L, Larrauri J, Díaz MC, Camarena C, De la Vega A, Frauca E, López-Collazo E, Lapunzina P.
    Hum Mol Genet; 2004 Oct 15; 13(20):2451-60. PubMed ID: 15317749
    [Abstract] [Full Text] [Related]

  • 18. Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.
    Uegaki S, Tanaka A, Mori Y, Kodama H, Fukusato T, Takikawa H.
    Intern Med; 2008 Oct 15; 47(7):599-602. PubMed ID: 18379143
    [Abstract] [Full Text] [Related]

  • 19. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.
    Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL.
    Gastroenterology; 2004 Mar 15; 126(3):756-64. PubMed ID: 14988830
    [Abstract] [Full Text] [Related]

  • 20. Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study.
    Eiberg H, Nørgaard-Pedersen B, Nielsen IM.
    Int J Circumpolar Health; 2004 Mar 15; 63 Suppl 2():189-91. PubMed ID: 15736649
    [Abstract] [Full Text] [Related]

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