These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. 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 [TBL] [Abstract][Full Text] [Related]
6. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing. Vitale G; Gitto S; Raimondi F; Mattiaccio A; Mantovani V; Vukotic R; D'Errico A; Seri M; Russell RB; Andreone P J Gastroenterol; 2018 Aug; 53(8):945-958. PubMed ID: 29238877 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
9. Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1. Nayagam JS; Williamson C; Joshi D; Thompson RJ Aliment Pharmacol Ther; 2020 Dec; 52(11-12):1628-1639. PubMed ID: 33070363 [TBL] [Abstract][Full Text] [Related]
10. Current and future therapies for inherited cholestatic liver diseases. van der Woerd WL; Houwen RH; van de Graaf SF World J Gastroenterol; 2017 Feb; 23(5):763-775. PubMed ID: 28223721 [TBL] [Abstract][Full Text] [Related]
12. 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; 7(1):11823. PubMed ID: 28924228 [TBL] [Abstract][Full Text] [Related]
13. The role of genetic mutations in intrahepatic cholestasis of pregnancy. Aydın GA; Özgen G; Görükmez O Taiwan J Obstet Gynecol; 2020 Sep; 59(5):706-710. PubMed ID: 32917322 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
15. 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; 16(1):171. PubMed ID: 37488596 [TBL] [Abstract][Full Text] [Related]
16. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Sticova E; Jirsa M; Pawłowska J Can J Gastroenterol Hepatol; 2018; 2018():2313675. PubMed ID: 30148122 [TBL] [Abstract][Full Text] [Related]
17. Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1. Nayagam JS; Foskett P; Strautnieks S; Agarwal K; Miquel R; Joshi D; Thompson RJ Hepatol Commun; 2022 Oct; 6(10):2654-2664. PubMed ID: 35894240 [TBL] [Abstract][Full Text] [Related]