Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants C Hamoir, X Pepermans, H Piessevaux, A Jouret-Mourin, B Weynand, ... Digestion 87 (4), 229-239, 2013 | 45 | 2013 |
Genetic differences between paediatric and adult Burkitt lymphomas V Havelange, X Pepermans, G Ameye, I Théate, E Callet‐Bauchu, ... British journal of haematology 173 (1), 137-144, 2016 | 35 | 2016 |
ABPA in adulthood: a CFTR-related disorder P Lebecque, X Pepermans, E Marchand, A Leonard, T Leal Thorax 66 (6), 540-541, 2011 | 23 | 2011 |
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism C Ka, J Guellec, X Pepermans, C Kannengiesser, C Ged, W Wuyts, ... haematologica 103 (11), 1796, 2018 | 19 | 2018 |
Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients P Melotti, A Mafficini, P Lebecque, M Ortombina, T Leal, E Pintani, ... PLoS One 9 (12), e114274, 2014 | 11 | 2014 |
Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis A Mafficini, M Ortombina, I Sermet-Gaudelius, P Lebecque, T Leal, ... Journal of Cystic Fibrosis 10 (4), 228-233, 2011 | 10 | 2011 |
Identification and frequencies of cystic fibrosis mutations in central Argentina X Pepermans, S Mellado, S Chialina, M Wagener, L Gallardo, H Lande, ... Clinical Biochemistry 49 (1-2), 154-160, 2016 | 7 | 2016 |
Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23. 2–24.1 M Bloch, A Leonard, AA Diplas, X Pepermans, BS Emanuel, MS Rocca, ... American Journal of Medical Genetics Part A 164 (7), 1789-1794, 2014 | 5 | 2014 |
New molecular screening assay for increased detection rate of CFTR mutations in European populations X Pepermans, M Philippe, T Leal Eur Respir Dis, 62-65, 2010 | 4 | 2010 |
SPECTRUM OF CFTR MUTATIONS IN CYSTIC FIBROSIS AND IN CYSTIC FIBROSIS RELATED DISORDERS X Pepermans Université de Liège, 2017 | | 2017 |
Genetic alterations in MYC-rearranged aggressive B-cell lymphomas V Havelange, X Pepermans, G Ameye, I Théate, E Callet-Bauchu, C Barin, ... Abstract book, 83-83, 2016 | | 2016 |
Pediatric Burkitt lymphomas (BL) differ from adult BL by less frequent ID3 mutations V Havelange, X Pepermans, G Ameye, I Theate, E Callet-Bauchu, ... British Journal of Haematology 171, 62, 2015 | | 2015 |
The diagnosis of genetic predisposition in familial pancreatic cancer S Boumendjel, X Pepermans, H Antoine-Poirel Pancreatology 3 (13), S63, 2013 | | 2013 |
WS21. 4 Clinical and morphological characteristics of sporadic genetically determined pancreatitis compared with idiopathic pancreatitis: Higher risk of pancreatic cancer in … X Pepermans, C Hamoir, H Piessevaux, A Jouret-Mourin, B Weynand, ... Journal of Cystic Fibrosis, S43, 2013 | | 2013 |
17 Modulation of cystic fibrosis disease severity by macrophage migration inhibitory factor polymorphisms T Leal, A Mafficini, P Lebecque, M Ortombina, E Pintani, X Pepermans, ... Journal of Cystic Fibrosis, S52, 2013 | | 2013 |
CYP2D6: NEW GENOTYPING METHODS JF Classen, X Pepermans, JL Vaerman, R Linden, P Wallem-acq, ... ACTA CLINICA BELGICA 67 (1), 64-64, 2012 | | 2012 |
IMPACT OF POLYMORPHIC-794 CATT REPEATS OF MACROPHAGE MIGRATION INHIBITORY FACTOR PROMOTER ON SEVERITY OF CF A Mafficini, L Teresinha, P Lebecque, M Ortombina, C Sorio, E Pintani, ... PEDIATRIC PULMONOLOGY 47 (S35), 281-281, 2012 | | 2012 |
11 Original description of a large 6b-16 exon duplication in CFTR gene in a Brazilian CF patient XP Pepermans, FA Ribeiro, C Bertuzzo, T Leal Journal of Cystic Fibrosis, S57, 2012 | | 2012 |
25 Launch of Luminex xTAG 71 mutations v2 for CFTR screening in Europe X Pepermans, A Bosmans, M Philippe, T Leal Journal of Cystic Fibrosis, S7, 2011 | | 2011 |
Haplotype analysis to determine founder effect in 150 Belgian hemophilia A patients N Lannoy, N Soree, X Pepermans, C Hermans HAEMOPHILIA 16, 94-94, 2010 | | 2010 |