151 related articles for article (PubMed ID: 38108658)
1. 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]
2. ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT; Li ZD; Yang Y; Lu Y; Xie XB; Chen L; Feng JY; Knisely AS; Wang JS
Liver Int; 2020 Nov; 40(11):2788-2796. PubMed ID: 32808743
[TBL] [Abstract][Full Text] [Related]
3. Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2.
Zheng Y; Zhou C; Zheng B; Hu G; Wang C; Zhou W; Lu Y; Zhang Z; Lin Q; Guo H; Jin Y; Liu Z; Tang W
Dig Liver Dis; 2022 Nov; 54(11):1541-1547. PubMed ID: 35490150
[TBL] [Abstract][Full Text] [Related]
6. A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.
Selim N; Omair H; El-Karaksy H; Fathy M; Mahmoud E; Baroudy S; Fathy M; Yassin N
Arab J Gastroenterol; 2022 Feb; 23(1):15-19. PubMed ID: 35153175
[TBL] [Abstract][Full Text] [Related]
7. Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.
Mitra S; Das A; Thapa B; Kumar Vasishta R
Fetal Pediatr Pathol; 2020 Apr; 39(2):107-123. PubMed ID: 31335238
[No Abstract] [Full Text] [Related]
8. 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]
9. Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
Kubitz R; Dröge C; Kluge S; Stross C; Walter N; Keitel V; Häussinger D; Stindt J
Clin Rev Allergy Immunol; 2015 Jun; 48(2-3):273-84. PubMed ID: 25342496
[TBL] [Abstract][Full Text] [Related]
10. Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu G; He P; Liu Z; Chen Q; Zheng B; Zhang Q
Mol Med Rep; 2014 Sep; 10(3):1264-74. PubMed ID: 24969679
[TBL] [Abstract][Full Text] [Related]
11. 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]
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; 67(6):1253-1264. PubMed ID: 28733223
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.
Starosta RT; Granadillo JL; Patel KR; Finegold MJ; Stoll J; Kulkarni S
Pediatr Dev Pathol; 2022; 25(2):174-179. PubMed ID: 34428094
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.
Liu LY; Wang ZL; Wang XH; Zhu QR; Wang JS
Liver Int; 2010 Jul; 30(6):809-15. PubMed ID: 19845854
[TBL] [Abstract][Full Text] [Related]
17. Progressive familial intrahepatic cholestasis: a personal perspective.
Knisely AS
Pediatr Dev Pathol; 2000; 3(2):113-25. PubMed ID: 10679031
[TBL] [Abstract][Full Text] [Related]
18. Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Imagawa K; Hayashi H; Sabu Y; Tanikawa K; Fujishiro J; Kajikawa D; Wada H; Kudo T; Kage M; Kusuhara H; Sumazaki R
J Hum Genet; 2018 May; 63(5):569-577. PubMed ID: 29507376
[TBL] [Abstract][Full Text] [Related]
19. 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
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]