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Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
Cuyx S, Ramalho SS, Callebaut I, Cuppens H, Kmit A, Arnauts K, Ferrante M, Verfaillie C, Ensinck M, Carlon MS, Boon M, Proesmans M, Dupont L, De Boeck K, Farinha CM, Vermeulen F, Ramalho AS. Cuyx S, et al. Among authors: de boeck k. J Cyst Fibros. 2022 Jul;21(4):644-651. doi: 10.1016/j.jcf.2022.05.013. Epub 2022 Jun 9. J Cyst Fibros. 2022. PMID: 35690578
Is there evidence for correct diagnosis in cystic fibrosis registries?
Thomas M, Lemonnier L, Gulmans V, Naehrlich L, Vermeulen F, Cuppens H, Castellani C, Norek A, De Boeck K. Thomas M, et al. Among authors: de boeck k. J Cyst Fibros. 2014 May;13(3):275-80. doi: 10.1016/j.jcf.2013.10.010. Epub 2013 Nov 22. J Cyst Fibros. 2014. PMID: 24274930 Free article.
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Bosch B, Bilton D, Sosnay P, Raraigh KS, Mak DYF, Ishiguro H, Gulmans V, Thomas M, Cuppens H, Amaral M, De Boeck K. Bosch B, et al. Among authors: de boeck k. J Cyst Fibros. 2017 Jul;16(4):488-491. doi: 10.1016/j.jcf.2017.01.016. Epub 2017 Feb 21. J Cyst Fibros. 2017. PMID: 28233695 Free article.
The diagnosis of cystic fibrosis.
De Boeck K, Vermeulen F, Dupont L. De Boeck K, et al. Presse Med. 2017 Jun;46(6 Pt 2):e97-e108. doi: 10.1016/j.lpm.2017.04.010. Epub 2017 May 31. Presse Med. 2017. PMID: 28576637 Review.
273 results