Bernadette Begue

Paris, 75015, France

Last Updated: 09/26/2026

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Found 10 publications

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Journal: American journal of human genetics

Published: January 24, 2021

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.

Journal: Journal of Crohn's & colitis

Published: September 08, 2020

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Journal: Gastroenterology

Published: June 06, 2018

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Journal: EMBO molecular medicine

Published: March 24, 2018

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

Journal: PloS one

Published: February 08, 2018

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Journal: Journal of Crohn's & colitis

Published: December 13, 2017

First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.

First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.

Journal: Gastroenterology

Published: November 02, 2016

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Journal: Journal of pediatric gastroenterology and nutrition

Published: June 03, 2016

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

Journal: The Journal of allergy and clinical immunology

Published: March 06, 2014

Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group.

Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group.

Journal: Inflammatory bowel diseases

Published: November 13, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026