206 related articles for article (PubMed ID: 29973134)
1. Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Sharma A; Poddar U; Agnihotry S; Phadke SR; Yachha SK; Aggarwal R
BMC Gastroenterol; 2018 Jul; 18(1):107. PubMed ID: 29973134
[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. 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]
4. 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]
5. Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S; Haep N; Gad MA; Soto-Gutierrez A; Squires JE; Florentino RM
World J Gastroenterol; 2020 Dec; 26(47):7470-7484. PubMed ID: 33384548
[TBL] [Abstract][Full Text] [Related]
6. A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A; Poddar U; Agnihotry S; Aggarwal R
Indian Pediatr; 2016 Dec; 53(12):1099-1101. PubMed ID: 28064265
[TBL] [Abstract][Full Text] [Related]
7. 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]
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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
10. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Bakır A; Topçu V; Çavdarlı B
Ann Hum Genet; 2022 May; 86(3):119-126. PubMed ID: 34961929
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. 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]
14. 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]
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. Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child.
Shah I; Chilkar S
J Pediatr Genet; 2017 Jun; 6(2):126-127. PubMed ID: 28497004
[TBL] [Abstract][Full Text] [Related]
17. Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T; Campbell J; Crathorne L
Orphanet J Rare Dis; 2021 Jun; 16(1):255. PubMed ID: 34082807
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
Liu LY; Wang XH; Wang ZL; Zhu QR; Wang JS
J Pediatr Gastroenterol Nutr; 2010 Feb; 50(2):179-83. PubMed ID: 20038848
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
