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A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C. Guéguen P, et al. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.
Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.
Saliou P, Le Gac G, Mercier AY, Chanu B, Guéguen P, Mérour MC, Gourlaouen I, Autret S, Le Maréchal C, Rouault K, Nousbaum JB, Férec C, Scotet V. Saliou P, et al. Among authors: gueguen p. PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013. PLoS One. 2013. PMID: 24339903 Free PMC article.
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.
Luque Paz D, Chauveau A, Boyer F, Buors C, Samaison L, Cottin L, Seegers V, Férec C, Le Maréchal C, Gueguen P, Lippert E, Ianotto JC, Ugo V. Luque Paz D, et al. Among authors: gueguen p. Genes Chromosomes Cancer. 2017 May;56(5):354-362. doi: 10.1002/gcc.22437. Epub 2017 Feb 1. Genes Chromosomes Cancer. 2017. PMID: 27997717
Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice.
Uguen A, Guéguen P, Legoupil D, Bouvier S, Costa S, Duigou S, Lemasson G, Ledé F, Sassolas B, Talagas M, Férec C, Le Maréchal C, De Braekeleer M, Marcorelles P. Uguen A, et al. Among authors: gueguen p. Hum Pathol. 2015 Nov;46(11):1582-91. doi: 10.1016/j.humpath.2015.06.023. Epub 2015 Jul 15. Hum Pathol. 2015. PMID: 26297254
79 results