Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.
Reddy S et al.
Acg Case Reports Journal, 2024
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations.
Sohn MJ et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report.
Masahata K et al.
Transplantation Proceedings, 2016
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
Kubitz R et al.
Clinical Reviews in Allergy & Immunology, 2015
The etiology of intrahepatic cholestasis of pregnancy: towards solving a monkey puzzle.
Webb GJ et al.
The American Journal of Gastroenterology, 2014
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.
Evason K et al.
The American Journal of Surgical Pathology, 2011
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS et al.
Gastroenterology, 2008
Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
Grotra R et al.
Journal of Clinical and Experimental Hepatology, 0