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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Lunati-Rozie A, Janin A, Faubert E, Nony S, Renoux C, Carcao MD, Fanen P, Funalot B, Mansour-Hendili L, Joly P. Lunati-Rozie A, et al. Among authors: fanen p. Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16. Br J Haematol. 2023. PMID: 36928866 No abstract available.
Biochemical methods to assess CFTR expression and membrane localization.
Farinha CM, Penque D, Roxo-Rosa M, Lukacs G, Dormer R, McPherson M, Pereira M, Bot AG, Jorna H, Willemsen R, Dejonge H, Heda GD, Marino CR, Fanen P, Hinzpeter A, Lipecka J, Fritsch J, Gentzsch M, Edelman A, Amaral MD. Farinha CM, et al. Among authors: fanen p. J Cyst Fibros. 2004 Aug;3 Suppl 2:73-7. doi: 10.1016/j.jcf.2004.05.017. J Cyst Fibros. 2004. PMID: 15463932 Free article.
Antibodies for CFTR studies.
Mendes F, Farinha CM, Roxo-Rosa M, Fanen P, Edelman A, Dormer R, McPherson M, Davidson H, Puchelle E, De Jonge H, Heda GD, Gentzsch M, Lukacs G, Penque D, Amaral MD. Mendes F, et al. Among authors: fanen p. J Cyst Fibros. 2004 Aug;3 Suppl 2:69-72. doi: 10.1016/j.jcf.2004.05.016. J Cyst Fibros. 2004. PMID: 15463931 Free article. Review.
Screening for cystic fibrosis in dried blood spots of newborns.
Audrézet MP, Costes B, Ghanem N, Fanen P, Verlingue C, Morin JF, Mercier B, Goossens M, Férec C. Audrézet MP, et al. Among authors: fanen p. Mol Cell Probes. 1993 Dec;7(6):497-502. doi: 10.1006/mcpr.1993.1073. Mol Cell Probes. 1993. PMID: 8145780
102 results