Veronique D. Barbu

APHP, St Antoine Hospital
Paris, France

Last Updated: 09/26/2026

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Found 26 publications

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.

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.

Journal: Annals of human genetics

Published: July 14, 2023

A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Journal: JHEP reports : innovation in hepatology

Published: April 07, 2022

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 28, 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Journal: Endocrine connections

Published: April 16, 2020

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Journal: JHEP reports : innovation in hepatology

Published: April 08, 2020

Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.

Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.

Journal: Revista espanola de enfermedades digestivas

Published: September 21, 2019

Intrahepatic Cholestasis Owing to a Novel Heterozygous ABCG8 Mutation and SLC4A2 Polymorphism With Favorable Outcome Under Ursodeoxycholic Acid.

Intrahepatic Cholestasis Owing to a Novel Heterozygous ABCG8 Mutation and SLC4A2 Polymorphism With Favorable Outcome Under Ursodeoxycholic Acid.

Journal: The American journal of gastroenterology

Published: July 24, 2019

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: April 09, 2019

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 04, 2019

Editorial: Genetics of cholangiopathies.

Editorial: Genetics of cholangiopathies.

Journal: Current opinion in gastroenterology

Published: January 10, 2019

Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.

Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.

Journal: Revista espanola de enfermedades digestivas

Published: November 20, 2018

Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy.

Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy.

Journal: Clinical genetics

Published: June 13, 2018

Showing 1-12 of 26

Last Updated: 09/26/2026