Search filters

List of works by Richard J. Thompson

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

scientific article

ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor

scientific article

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy

scientific article published on 18 September 2017

Anti-CD20 Monoclonal Antibody Therapy in Functional Bile Salt Export Pump Deficiency After Liver Transplantation

scientific article published on 01 June 2015

BSEP: function and role in progressive familial intrahepatic cholestasis

scientific article (publication date: November 2001)

Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion

scientific article

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

scientific article

Cholestasis: current issues and plan for the future.

scientific article published on August 2008

Cholestatic and metabolic liver diseases: Working Group report of the second World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition.

scientific article published on June 2004

Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy

scientific article published on 01 September 2008

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy

scientific article published in April 2009

Donor transmitted mutation of the ABCB11 gene and ensuing intrahepatic cholestasis of pregnancy in a liver transplant recipient.

scientific article

Effect of ischemic preconditioning on the genomic response to reperfusion injury in deceased donor liver transplantation

scientific article published in December 2009

Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2

scientific article published on 01 April 2006

Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit

scientific article

Genetic defects in hepatocanalicular transport.

scientific article

Healy's law and the pediatric liver allograft

scientific article published on 01 November 2008

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

scientific article (publication date: December 1999)

Hepatocellular carcinoma associated with tight-junction protein 2 deficiency

scientific article

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

scientific article

Heterogeneity of the egammadeltabeta-thalassaemias: characterization of three novel English deletions

scientific article published on 01 March 2005

Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndrome.

scientific article

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping

scientific article

Massive gene amplification drives paediatric hepatocellular carcinoma caused by bile salt export pump deficiency

scientific article published on 13 May 2014

Microvilli as markers of disordered apical-membrane trafficking and assembly: bowel and liver

scientific article published on 12 May 2014

Multiple β-catenin mutations in hepatocellular lesions arising in Abernethy malformation.

scientific article published on 30 March 2016

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

scientific article published on 25 July 2016

Mutations in TJP2 cause progressive cholestatic liver disease

scientific article

Mutations in TJP2, encoding zona occludens 2, and liver disease.

scientific article published on 17 March 2015

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

scientific article

Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma

scientific article published on 01 May 2007

Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes

scientific article (publication date: July 2002)

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.

scientific article

Pediatric liver disease

scientific article published on 01 May 2000

Pediatric liver disease.

scientific article published in May 1999

Progressive Familial Intrahepatic Cholestasis

scientific article published on 03 August 2018

Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity

scientific article (publication date: March 2004)

Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease)

scientific article published on 01 July 2010

Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism

scientific article published on 20 June 2018

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

scientific article

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype

scientific article published in February 2006

Paulina is supported by:

About Paulina

Help