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Journal Abstract Search

407 related items for PubMed ID: 31105019

  • 21. Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
    Huynh MT, Nguyen TT, Grison S, Lascols O, Fernandez E, Barbu V.
    Rev Esp Enferm Dig; 2019 Oct; 111(10):775-788. PubMed ID: 31538484
    [Abstract] [Full Text] [Related]

  • 22. Progressive familial intrahepatic cholestasis: a personal perspective.
    Knisely AS.
    Pediatr Dev Pathol; 2000 Oct; 3(2):113-25. PubMed ID: 10679031
    [Abstract] [Full Text] [Related]

  • 23. Molecular basis of intrahepatic cholestasis.
    Carlton VE, Pawlikowska L, Bull LN.
    Ann Med; 2004 Oct; 36(8):606-17. PubMed ID: 15768832
    [Abstract] [Full Text] [Related]

  • 24. 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
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  • 25. Genetic cholestasis, causes and consequences for hepatobiliary transport.
    Jansen PL, Sturm E.
    Liver Int; 2003 Oct; 23(5):315-22. PubMed ID: 14708891
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  • 26. Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
    Chen HL, Li HY, Wu JF, Wu SH, Chen HL, Yang YH, Hsu YH, Liou BY, Chang MH, Ni YH.
    J Pediatr; 2019 Feb; 205():153-159.e6. PubMed ID: 30366773
    [Abstract] [Full Text] [Related]

  • 27. 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; 53(1):170-8. PubMed ID: 20447715
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  • 28. Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis.
    Kunne C, de Graaff M, Duijst S, de Waart DR, Oude Elferink RP, Paulusma CC.
    Lab Invest; 2014 Oct; 94(10):1103-13. PubMed ID: 25068656
    [Abstract] [Full Text] [Related]

  • 29. Progressive familial intrahepatic cholestasis. Genetic basis and treatment.
    Jacquemin E.
    Clin Liver Dis; 2000 Nov; 4(4):753-63. PubMed ID: 11232355
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31.  Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
    Vitale G, Pirillo M, Mantovani V, Marasco E, Aquilano A, Gamal N, Francalanci P, Conti F, Andreone P.
    Ann Hepatol; 2016 Oct 15; 15(5):795-800. PubMed ID: 27493120
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  • 32. Overview of Progressive Familial Intrahepatic Cholestasis.
    Hassan S, Hertel P.
    Clin Liver Dis; 2022 Aug 15; 26(3):371-390. PubMed ID: 35868680
    [Abstract] [Full Text] [Related]

  • 33. Biliary transporter gene mutations in severe intrahepatic cholestasis of pregnancy: Diagnostic and management implications.
    Yeap SP, Harley H, Thompson R, Williamson KD, Bate J, Sethna F, Farrell G, Hague WB.
    J Gastroenterol Hepatol; 2019 Feb 15; 34(2):425-435. PubMed ID: 29992621
    [Abstract] [Full Text] [Related]

  • 34. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.
    Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M.
    Gastroenterology; 1999 Dec 15; 117(6):1370-9. PubMed ID: 10579978
    [Abstract] [Full Text] [Related]

  • 35. Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis.
    Kim KH, Choi JM, Li F, Arizpe A, Wooton-Kee CR, Anakk S, Jung SY, Finegold MJ, Moore DD.
    Endocrinology; 2018 Jun 01; 159(6):2435-2446. PubMed ID: 29718219
    [Abstract] [Full Text] [Related]

  • 36. A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.
    Qiao F, Ren F, Lu W, Yang H, Mo G, Wang S, Liu L, Xu X.
    BMC Med Genomics; 2023 Jul 25; 16(1):171. PubMed ID: 37488596
    [Abstract] [Full Text] [Related]

  • 37. 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 25; 55(5):308-13. PubMed ID: 20414253
    [Abstract] [Full Text] [Related]

  • 38. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
    Dixon PH, Sambrotta M, Chambers J, Taylor-Harris P, Syngelaki A, Nicolaides K, Knisely AS, Thompson RJ, Williamson C.
    Sci Rep; 2017 Sep 18; 7(1):11823. PubMed ID: 28924228
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  • 39.  Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis.
    El-Guindi MA, Sira MM, Hussein MH, Ehsan NA, Elsheikh NM.
    Ann Hepatol; 2016 Sep 18; 15(2):222-9. PubMed ID: 26845599
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  • 40. Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
    Saleem K, Cui Q, Zaib T, Zhu S, Qin Q, Wang Y, Dam J, Ji W, Liu P, Jia X, Wu J, Bai J, Fu S, Sun W.
    Dis Markers; 2020 Sep 18; 2020():6292818. PubMed ID: 32626542
    [Abstract] [Full Text] [Related]

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