Xavier Pepermans
Xavier Pepermans
Biologiste Université catholique de Louvain - Cliniques universitaires Saint-Luc
Verified email at uclouvain.be
TitleCited byYear
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
212013
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
152016
ABPA in adulthood: a CFTR-related disorder
P Lebecque, X Pepermans, E Marchand, A Leonard, T Leal
Thorax 66 (6), 540-541, 2011
132011
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
72011
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
62014
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
42014
New molecular screening assay for increased detection rate of CFTR mutations in European populations
X Pepermans, M Philippe, T Leal
Eur Respir Dis 6, 62-65, 2010
42010
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
32016
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), 1796-1805, 2018
22018
SPECTRUM OF CFTR MUTATIONS IN CYSTIC FIBROSIS AND IN CYSTIC FIBROSIS RELATED DISORDERS
X Pepermans
2018
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
DISSECTION OF GENOMIC ALTERATIONS IN A SERIES OF 34MYC-REARRANGED LYMPHOMAS BY SNP ARRAY AND SEQUENCINGTP53, P14ARF, ID3, ANDCCND3GENES: 289
H Poirel, V Havelange, I Theate, X Pepermans, G Ameye, ...
Hematological Oncology 33, 2015
2015
Pediatric Burkitt lymphomas (BL) differ from adult BL by less frequent ID3 mutations
V Havelange, X Pepermans, G Ameye, I Théate, E Callet-Bauchu, ...
British Journal of Haematology 171, 62, 2015
2015
10 The role of complex alleles in patients with cystic fibrosis and L997F
N Cirilli, V Terlizzi, P Nardiello, R Gagliardini, A Tosco, A Sepe, ...
Journal of Cystic Fibrosis 12, S50, 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 12, 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 12, S52, 2013
2013
Contents Vol. 87, 2013
BH Min, J Khan, I Nordback, J Sand, C Hamoir, X Pepermans, ...
Digestion 87 (4), I-IV, 2013
2013
The diagnosis of genetic predisposition in familial pancreatic cancer
S Boumendjel, X Pepermans, H Antoine-Poirel
Pancreatology 3 (13), S63, 2013
2013
IMPACT OF POLYMORPHIC-794 CATT REPEATS OF MACROPHAGE MIGRATION INHIBITORY FACTOR PROMOTER ON SEVERITY OF CF: 167
A Mafficini, L Teresinha, P Lebecque, M Ortombina, C Sorio, E Pintani, ...
Pediatric Pulmonology 47, 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 11, S57, 2012
2012
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