Publications by authors named "Xavier Pepermans"

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The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged

Haematologica· November 2018

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Genetic differences between paediatric and adult Burkitt lymphomas.
Violaine Havelange, Xavier Pepermans, Geneviève Ameye, Ivan Théate, Evelyne Callet-Bauchu

Br J Haematol· April 2016

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Identification and frequencies of cystic fibrosis mutations in central Argentina.
Xavier Pepermans, Soledad Mellado, Sergio Chialina, Marta Wagener, Liliana Gallardo

Clin Biochem· January 2016

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Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients.
Paola Melotti, Andrea Mafficini, Patrick Lebecque, Myriam Ortombina, Teresinha Leal, Xavier Pepermans

PLoS One· October 2015

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Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
Mercedes Bloch, Anissa Leonard, Andreas A Diplas, Xavier Pepermans, Beverly S Emanuel

Am J Med Genet A· July 2014

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Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.
Coralie Hamoir, Xavier Pepermans, Hubert Piessevaux, Anne Jouret-Mourin, Birgit Weynand

Digestion· March 2014

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