A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

Carol J. Gallione, Gabriela M. Repetto, Eric Legius, +7

The Lancet

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPathology +4

Mapping of a gene for long QT syndrome to chromosome 4q25-27.

Jean‐Jacques Schott, Flavien Charpentier, S Peltier, +7

PubMed

Symptoms Have Modest Accuracy in Detecting Endoscopic and Histologic Remission in Adults With Eosinophilic Esophagitis

Ekaterina Safroneeva, Alex Straumann, Michael Coslovsky, +59

Gastroenterology

EsophagusHistologic RemissionMedicineGastroenterologyDiagnosis +8

Combined budesonide and antibiotic therapy for active Crohn's disease: A randomized controlled trial

A. Hillary Steinhart, Brian G. Feagan, Cindy J. Wong, +9

Gastroenterology

InflammationGastroenterologyClinical GastroenterologyUlcerative ColitisMedicine +3

A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis

Pierre Chagnon, Jacques L. Michaud, Grant A. Mitchell, +6

The American Journal of Human Genetics

HepatologyGeneticsPathogenesisMissense MutationPathology +2

Pharmacokinetics of orally administered omeprazole in children

Tommy Andersson, Eric Hassall, Per Lundborg, +9

The American Journal of Gastroenterology

Eosinophilic Esophagitis in Children: Symptoms, Histology and pH Probe Results

A. M. G. A. Sant Anna, S. Rolland, J Fournet, +2

Journal of Pediatric Gastroenterology and Nutrition

Mechanisms of lipid malabsorption in Cystic Fibrosis: the impact of essential fatty acids deficiency

Noël Peretti, Valérie Marcil, Éric Drouin, +1

Nutrition & Metabolism

Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency

Philippe Bégin, Natalie Patey, Pascal Mueller, +6

Journal of Clinical Immunology

InflammationAutoimmune DiseaseMucosal ImmunologyImmunologyGastroenterology +6

Chylomicron retention disease: A long term study of two cohorts

Noël Peretti, Claude Roy, Agnès Sassolas, +11

Molecular Genetics and Metabolism

EpidemiologyChylomicron Retention Disease