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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G. Ka C, et al. Among authors: pepermans x. Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12. Haematologica. 2018. PMID: 30002125 Free PMC article.
Genetic differences between paediatric and adult Burkitt lymphomas.
Havelange V, Pepermans X, Ameye G, Théate I, Callet-Bauchu E, Barin C, Penther D, Lippert E, Michaux L, Mugneret F, Dastugue N, Raphaël M, Vikkula M, Poirel HA. Havelange V, et al. Among authors: pepermans x. Br J Haematol. 2016 Apr;173(1):137-44. doi: 10.1111/bjh.13925. Epub 2016 Feb 16. Br J Haematol. 2016. PMID: 26887776 Free article. Clinical Trial.
ABPA in adulthood: a CFTR-related disorder.
Lebecque P, Pepermans X, Marchand E, Leonard A, Leal T. Lebecque P, et al. Among authors: pepermans x. Thorax. 2011 Jun;66(6):540-1. doi: 10.1136/thx.2010.145862. Epub 2010 Sep 13. Thorax. 2011. PMID: 20837875 No abstract available.
Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients.
Melotti P, Mafficini A, Lebecque P, Ortombina M, Leal T, Pintani E, Pepermans X, Sorio C, Assael BM. Melotti P, et al. Among authors: pepermans x. PLoS One. 2014 Dec 12;9(12):e114274. doi: 10.1371/journal.pone.0114274. eCollection 2014. PLoS One. 2014. PMID: 25503271 Free PMC article.
Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis.
Mafficini A, Ortombina M, Sermet-Gaudelius I, Lebecque P, Leal T, Iansa P, Reychler G, Dahan K, Pepermans X, Lenoir G, Leonard A, Sorio C, Assael B, Melotti P. Mafficini A, et al. Among authors: pepermans x. J Cyst Fibros. 2011 Jul;10(4):228-33. doi: 10.1016/j.jcf.2010.10.007. Epub 2011 Mar 24. J Cyst Fibros. 2011. PMID: 21435954 Free article.