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Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I. Le Gac G, et al. Among authors: Callebaut I. Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10. Hum Mutat. 2013. PMID: 23784628
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N, Bitam S, Martin N, Servel N, Costes B, Mekki C, Chevalier B, Pranke I, Simonin J, Girodon E, Hoffmann B, Mornon JP, Callebaut I, Sermet-Gaudelus I, Fanen P, Edelman A, Hinzpeter A. Baatallah N, et al. Among authors: Callebaut I. Hum Mutat. 2018 Apr;39(4):506-514. doi: 10.1002/humu.23389. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29271547
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: Callebaut I. Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12. Haematologica. 2018. PMID: 30002125 Free PMC article.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G. Callebaut I, et al. Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8. Hum Mol Genet. 2014. PMID: 24714983
Characterization of novel RHD alleles: relationship between phenotype, genotype, and trimeric architecture.
Silvy M, Chapel-Fernandes S, Callebaut I, Beley S, Durousseau C, Simon S, Lauroua P, Dubosc-Marchenay N, Babault C, Mouchet C, Ferrera V, Chiaroni J, Bailly P. Silvy M, et al. Among authors: Callebaut I. Transfusion. 2012 Sep;52(9):2020-9. doi: 10.1111/j.1537-2995.2011.03544.x. Epub 2012 Feb 10. Transfusion. 2012. PMID: 22320258
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J. Acquaviva C, et al. Among authors: Callebaut I. Hum Mutat. 2005 Feb;25(2):167-76. doi: 10.1002/humu.20128. Hum Mutat. 2005. PMID: 15643616
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P. Jullien L, et al. Among authors: Callebaut I. Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23. Hum Mutat. 2016. PMID: 26847928
Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
Le Tertre M, Ka C, Guellec J, Gourlaouen I, Férec C, Callebaut I, Le Gac G. Le Tertre M, et al. Among authors: Callebaut I. Transfus Clin Biol. 2017 Nov;24(4):462-467. doi: 10.1016/j.tracli.2017.07.002. Epub 2017 Aug 18. Transfus Clin Biol. 2017. PMID: 28826751
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