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Journal Abstract Search

570 related items for PubMed ID: 26678486

  • 1. 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; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 51(5):1645-55. PubMed ID: 20232290
    [Abstract] [Full Text] [Related]

  • 4. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
    van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH.
    Best Pract Res Clin Gastroenterol; 2010 Oct; 24(5):541-53. PubMed ID: 20955958
    [Abstract] [Full Text] [Related]

  • 5. DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
    Shapiro R, Anikster Y, Yardeni T, Korem S, Hartman K, Shamir R, Broide E, Levine A, Bujanover Y, Bercovich D.
    J Hum Genet; 2010 May; 55(5):308-13. PubMed ID: 20414253
    [Abstract] [Full Text] [Related]

  • 6. 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; 127(2):379-84. PubMed ID: 15300568
    [Abstract] [Full Text] [Related]

  • 7. [Liver disease associated with hereditary defects of hepatobiliary transporters].
    Wendum D.
    Ann Pathol; 2010 Dec; 30(6):426-31. PubMed ID: 21167428
    [Abstract] [Full Text] [Related]

  • 8. NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
    Davit-Spraul A, Gonzales E, Jacquemin E.
    Clin Res Hepatol Gastroenterol; 2012 Dec; 36(6):569-73. PubMed ID: 23142591
    [Abstract] [Full Text] [Related]

  • 9. A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.
    Nobili V, Di Giandomenico S, Francalanci P, Callea F, Marcellini M, Santorelli FM.
    J Gastroenterol; 2006 Jun; 41(6):598-603. PubMed ID: 16868810
    [Abstract] [Full Text] [Related]

  • 10. Progressive familial intrahepatic cholestasis.
    Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E.
    Orphanet J Rare Dis; 2009 Jan 08; 4():1. PubMed ID: 19133130
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 15; 67(6):1253-1264. PubMed ID: 28733223
    [Abstract] [Full Text] [Related]

  • 13. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
    Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J.
    Gastroenterol Hepatol; 2022 Oct 15; 45(8):585-592. PubMed ID: 34942279
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 75(4):405-10. PubMed ID: 23402083
    [Abstract] [Full Text] [Related]

  • 15. Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
    Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN.
    J Hepatol; 2010 Jul 15; 53(1):170-8. PubMed ID: 20447715
    [Abstract] [Full Text] [Related]

  • 16. Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings.
    Morotti RA, Suchy FJ, Magid MS.
    Semin Liver Dis; 2011 Feb 15; 31(1):3-10. PubMed ID: 21344347
    [Abstract] [Full Text] [Related]

  • 17. Familial intrahepatic cholestasis: New and wide perspectives.
    Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P.
    Dig Liver Dis; 2019 Jul 15; 51(7):922-933. PubMed ID: 31105019
    [Abstract] [Full Text] [Related]

  • 18. Update on progressive familial intrahepatic cholestasis.
    Alissa FT, Jaffe R, Shneider BL.
    J Pediatr Gastroenterol Nutr; 2008 Mar 15; 46(3):241-52. PubMed ID: 18376240
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.
    Stindt J, Ellinger P, Weissenberger K, Dröge C, Herebian D, Mayatepek E, Homey B, Braun S, Schulte am Esch J, Horacek M, Canbay A, Schmitt L, Häussinger D, Kubitz R.
    Liver Int; 2013 Nov 15; 33(10):1527-35. PubMed ID: 23758865
    [Abstract] [Full Text] [Related]

  • 20. Progressive familial intrahepatic cholestasis.
    Srivastava A.
    J Clin Exp Hepatol; 2014 Mar 15; 4(1):25-36. PubMed ID: 25755532
    [Abstract] [Full Text] [Related]

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