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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
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.
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Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
Bloch M, Leonard A, Diplas AA, Pepermans X, Emanuel BS, Santa Rocca M, Revencu N, Sznajer Y.
Bloch M, et al. Among authors: pepermans x.
Am J Med Genet A. 2014 Jul;164A(7):1789-94. doi: 10.1002/ajmg.a.36516. Epub 2014 Apr 3.
Am J Med Genet A. 2014.
PMID: 24700699
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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.
Hamoir C, Pepermans X, Piessevaux H, Jouret-Mourin A, Weynand B, Habyalimana JB, Leal T, Geubel A, Gigot JF, Deprez PH.
Hamoir C, et al. Among authors: pepermans x.
Digestion. 2013;87(4):229-39. doi: 10.1159/000348439. Epub 2013 Jun 4.
Digestion. 2013.
PMID: 23751316
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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.
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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.
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Identification and frequencies of cystic fibrosis mutations in central Argentina.
Pepermans X, Mellado S, Chialina S, Wagener M, Gallardo L, Lande H, Bordino W, Baran D, Bours V, Leal T.
Pepermans X, et al.
Clin Biochem. 2016 Jan;49(1-2):154-60. doi: 10.1016/j.clinbiochem.2015.10.007. Epub 2015 Oct 21.
Clin Biochem. 2016.
PMID: 26500004
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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.
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