Publications by authors named "Bertrand Roquelaure"

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Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis.
Adrian Gervais, Astrid Marchal, Soraya Boucherit, Anthony Abi Haidar, Lucy Bizien, Bertrand Roquelaure

J Exp Med· March 2026

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Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.
Celine Leon, Marie-Françoise Odou, Bertrand Roquelaure, Louis Lebreton, Mathias Ruiz

Orphanet J Rare Dis· November 2025

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Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.
Bertrand Roquelaure, Marco Sciveres, Tassos Grammatikopoulos, Eberhard Lurz, Folke Freudenberg

Orphanet J Rare Dis· May 2025

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Quality of life of chronically ill children and adolescents: a cross-sectional study.
Pauline Perreard, Sarah Castets, Karine Aouchiche, Delphine Bernoux, Daniele Bruno, Bertrand Roquelaure

Arch Pediatr· October 2024

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Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis.
Richard J Thompson, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Bertrand Roquelaure

JHEP Rep· August 2023

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The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Emmanuelle Masson, Maren Ewers, Sumit Paliwal, Kiyoshi Kume, Virginie Scotet, Bertrand Roquelaure

Pancreatology· January 2023

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Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Richard J Thompson, Henrik Arnell, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Bertrand Roquelaure

Lancet Gastroenterol Hepatol· September 2022

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Partial splenectomy in children undergoing liver transplantation or venous shunt for severe hypersplenism: A case control comparative study.
Olivier Boillot, Sophie Chopinet, Emilie Gregoire, Laurent Milot, Philippe Petit, Bertrand Roquelaure

Clin Res Hepatol Gastroenterol· July 2022

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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure

Diagnostics (Basel)· May 2022

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A second case of multisystem inflammatory syndrome associated with SARS-CoV-2 in a liver-transplanted child.
Pauline Duvant, Bertrand Roquelaure, Aurélie Morand, Emmanuelle Bosdure, Florentine Garaix

Pediatr Transplant· February 2022

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Quality of life of transplanted children and their parents: a cross-sectional study.
Pauline Duvant, Magali Fillat, Florentine Garaix, Bertrand Roquelaure, Caroline Ovaert

Orphanet J Rare Dis· August 2021

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Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
Morgane Caralli, Celine Roman, Marie-Edith Coste, Bertrand Roquelaure, Christophe Buffat

J Pediatr Gastroenterol Nutr· June 2021

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Child with liver transplant recovers from COVID-19 infection. A case report.
Aurélie Morand, Bertrand Roquelaure, Philippe Colson, Sophie Amrane, Emmanuelle Bosdure

Arch Pediatr· July 2020

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Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Christophe Corpechot, Véronique Barbu, Olivier Chazouillères, Pierre Broué, Muriel Girard, Bertrand Roquelaure

Liver Int· January 2020

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Management of Biliary Atresia in France 1986 to 2015: Long-term Results.
Martina Fanna, Guillaume Masson, Carmen Capito, Muriel Girard, Florent Guerin, Bertrand Roquelaure

J Pediatr Gastroenterol Nutr· October 2019

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Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl.
Coline Mejean, Daniel Bertin, Kim Guetta, Cécile Desaldeleer, Mathilde Butori, Bertrand Roquelaure

Clin Case Rep· October 2019

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, Aurélie Bourchany, Cécile De Leusse, Bertrand Roquelaure

Am J Hum Genet· March 2018

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Somatic mutation, a cause of biliary atresia: A hypothesis.
Alexandre Fabre, Céline Roman, Bertrand Roquelaure

Med Hypotheses· May 2017

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Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Bertrand Roquelaure

Nat Commun· June 2016

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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Bertrand Roquelaure

Nat Commun· July 2015

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A prospective pilot study: can the biliary tree be visualized in children younger than 3 months on Magnetic Resonance Cholangiopancreatography?
Pascale Siles, Audrey Aschero, Guillaume Gorincour, Brigitte Bourliere-Najean, Bertrand Roquelaure

Pediatr Radiol· September 2014

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Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
Alexandre Fabre, Anne Breton, Marie-Edith Coste, Virginie Colomb, Beatrice Dubern, Bertrand Roquelaure

Arch Dis Child· January 2014

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Improving outcomes of biliary atresia: French national series 1986-2009.
Christophe Chardot, Chantal Buet, Marie-Odile Serinet, Jean-Louis Golmard, Alain Lachaux, Bertrand Roquelaure

J Hepatol· June 2013

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Anti-mitochondrial-2 antibodies (anti-PDC-E2): a marker for autoimmune hepatitis of children?
Romain Bailloud, Daniel Bertin, Bertrand Roquelaure, Céline Roman, Eric Ballot

Clin Res Hepatol Gastroenterol· August 2012

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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul

Am J Hum Genet· April 2012

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