Associated Papers
A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.
Constantinides M et al.
Communications Medicine, 2025
Intrahepatic Cholestasis of Pregnancy: A Single-Centre Whole-Exome Sequencing Study in a Maltese Cohort.
Spiteri D et al.
Clinical Genetics, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Sharabati I et al.
Annals of Medicine and Surgery (2012), 2025
From chelation to transplantation: lessons from a progressive familial intrahepatic cholestasis type 3 case initially managed as Wilson's disease.
Bardak AE et al.
Gastroenterology Report, 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
EASL Clinical Practice Guidelines on genetic cholestatic liver diseases.
Unknown Author
Journal of Hepatology, 2024
Obeticholic acid as a second-line treatment for low phospholipid-associated cholelithiasis syndrome.
Soret PA et al.
Alimentary Pharmacology & Therapeutics, 2024
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Sinha A et al.
Digestive Diseases and Sciences, 2022
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
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Jeyaraj R et al.
Genes, 2021
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S et al.
World Journal of Gastroenterology, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study.
Mhatre S et al.
The Lancet. Oncology, 2017
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2016
MDR3 mutation analysis: A step closer to precision medicine.
Bezerra JA
Hepatology (baltimore, Md.), 2016
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D et al.
Journal of Gastroenterology, 2016
A letter on ABCB4 from Iceland: On the highway to liver disease.
Lammert F et al.
Clinics and Research in Hepatology and Gastroenterology, 2015
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.
Anzivino C et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2013
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
Tomaiuolo R et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009