BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

398 related articles for article (PubMed ID: 30366773)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 45(8):585-592. PubMed ID: 34942279
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Progressive Familial Intrahepatic Cholestasis.
    Bull LN; Thompson RJ
    Clin Liver Dis; 2018 Nov; 22(4):657-669. PubMed ID: 30266155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
    Al-Hussaini A; Lone K; Bashir MS; Alrashidi S; Fagih M; Alanazi A; AlYaseen S; Almayouf A; Alruwaithi M; Asery A
    J Pediatr; 2021 Sep; 236():113-123.e2. PubMed ID: 33915153
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 34(2):425-435. PubMed ID: 29992621
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10.  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; 15(5):795-800. PubMed ID: 27493120
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
    Khabou B; Kallabi F; Abdelaziz RB; Maaloul I; Aloulou H; Chehida AB; Kammoun T; Barbu V; Boudawara TS; Fakhfakh F; Khemakhem B; Sahnoun OS
    Ann Hum Genet; 2024 May; 88(3):194-211. PubMed ID: 38108658
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
    Gomez-Ospina N; Potter CJ; Xiao R; Manickam K; Kim MS; Kim KH; Shneider BL; Picarsic JL; Jacobson TA; Zhang J; He W; Liu P; Knisely AS; Finegold MJ; Muzny DM; Boerwinkle E; Lupski JR; Plon SE; Gibbs RA; Eng CM; Yang Y; Washington GC; Porteus MH; Berquist WE; Kambham N; Singh RJ; Xia F; Enns GM; Moore DD
    Nat Commun; 2016 Feb; 7():10713. PubMed ID: 26888176
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
    Togawa T; Sugiura T; Ito K; Endo T; Aoyama K; Ohashi K; Negishi Y; Kudo T; Ito R; Kikuchi A; Arai-Ichinoi N; Kure S; Saitoh S
    J Pediatr; 2016 Apr; 171():171-7.e1-4. PubMed ID: 26858187
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.
    Liu C; Aronow BJ; Jegga AG; Wang N; Miethke A; Mourya R; Bezerra JA
    Gastroenterology; 2007 Jan; 132(1):119-26. PubMed ID: 17241866
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
    Lipiński P; Ciara E; Jurkiewicz D; Płoski R; Wawrzynowicz-Syczewska M; Pawłowska J; Jankowska I
    Ann Hepatol; 2021; 25():100342. PubMed ID: 33757843
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis].
    Wu Q; Ma B; Yang S; Mei S; Ma X; Kong X; Shi H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):789-793. PubMed ID: 31400129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.