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Journal Abstract Search

100 related items for PubMed ID: 10323248

  • 1. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
    Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB.
    Hum Genet; 1999 Mar; 104(3):241-8. PubMed ID: 10323248
    [Abstract] [Full Text] [Related]

  • 2. 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; 18(3):219-24. PubMed ID: 9500542
    [Abstract] [Full Text] [Related]

  • 3. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.
    Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH.
    Hum Genet; 1997 Sep; 100(3-4):382-7. PubMed ID: 9272159
    [Abstract] [Full Text] [Related]

  • 4. Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.
    Floreani A, Molaro M, Mottes M, Sangalli A, Baragiotta A, Roda A, Naccarato R, Clementi M.
    Am J Med Genet; 2000 Dec 18; 95(5):450-3. PubMed ID: 11146465
    [Abstract] [Full Text] [Related]

  • 5. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.
    Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB.
    Nat Genet; 1994 Dec 18; 8(4):380-6. PubMed ID: 7894490
    [Abstract] [Full Text] [Related]

  • 6. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.
    Carlton VE, Knisely AS, Freimer NB.
    Hum Mol Genet; 1995 Jun 18; 4(6):1049-53. PubMed ID: 7655458
    [Abstract] [Full Text] [Related]

  • 7. FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
    van Mil SW, Klomp LW, Bull LN, Houwen RH.
    Semin Liver Dis; 2001 Nov 18; 21(4):535-44. PubMed ID: 11745041
    [Abstract] [Full Text] [Related]

  • 8. Locus heterogeneity in progressive familial intrahepatic cholestasis.
    Strautnieks SS, Kagalwalla AF, Tanner MS, Gardiner RM, Thompson RJ.
    J Med Genet; 1996 Oct 18; 33(10):833-6. PubMed ID: 8933336
    [Abstract] [Full Text] [Related]

  • 9. Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.
    Arnell H, Nemeth A, Annerén G, Dahl N.
    Hum Genet; 1997 Sep 18; 100(3-4):378-81. PubMed ID: 9272158
    [Abstract] [Full Text] [Related]

  • 10. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
    Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ.
    Am J Hum Genet; 1997 Sep 18; 61(3):630-3. PubMed ID: 9326328
    [Abstract] [Full Text] [Related]

  • 11. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.
    Copeland E, Renault N, Renault M, Dyack S, Bulman DE, Bedard K, Otley A, Magee F, Acott P, Greer WL.
    J Gastroenterol Hepatol; 2013 Mar 18; 28(3):560-4. PubMed ID: 23033845
    [Abstract] [Full Text] [Related]

  • 12. Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
    Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P.
    PLoS One; 2015 Mar 18; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

  • 13. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
    Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E.
    Hepatology; 2010 May 18; 51(5):1645-55. PubMed ID: 20232290
    [Abstract] [Full Text] [Related]

  • 14. 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 18; 50(5):1597-605. PubMed ID: 19731236
    [Abstract] [Full Text] [Related]

  • 15. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
    van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW.
    Gastroenterology; 2004 Aug 18; 127(2):379-84. PubMed ID: 15300568
    [Abstract] [Full Text] [Related]

  • 16. Progressive familial intrahepatic cholestasis.
    Jacquemin E.
    Clin Res Hepatol Gastroenterol; 2012 Sep 18; 36 Suppl 1():S26-35. PubMed ID: 23141890
    [Abstract] [Full Text] [Related]

  • 17. Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature.
    Halawi A, Ibrahim N, Bitar R.
    Acta Gastroenterol Belg; 2021 Sep 18; 84(3):477-486. PubMed ID: 34599573
    [Abstract] [Full Text] [Related]

  • 18. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.
    Strubbe B, Geerts A, Van Vlierberghe H, Colle I.
    Acta Gastroenterol Belg; 2012 Dec 18; 75(4):405-10. PubMed ID: 23402083
    [Abstract] [Full Text] [Related]

  • 19. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy.
    Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja ML, Riikonen S, Ylikorkala O, Lehesjoki AE, Williamson C, Aittomäki K.
    Gut; 2003 Jul 18; 52(7):1025-9. PubMed ID: 12801961
    [Abstract] [Full Text] [Related]

  • 20. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
    Sticova E, Jirsa M, Pawłowska J.
    Can J Gastroenterol Hepatol; 2018 Jul 18; 2018():2313675. PubMed ID: 30148122
    [Abstract] [Full Text] [Related]

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