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A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
Ben-Farhat K, Ben-Mustapha I, Ben-Ali M, Rouault K, Hamami S, Mekki N, Ben-Chehida A, Larguèche B, Fitouri Z, Abdelmoula S, Khemiri M, Guediche MN, Boukthir S, Barsaoui S, Chemli J, Barbouche MR. Ben-Farhat K, et al. Among authors: rouault k. J Clin Immunol. 2016 Aug;36(6):547-54. doi: 10.1007/s10875-016-0299-9. Epub 2016 May 25. J Clin Immunol. 2016. PMID: 27220316
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: rouault k. PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013. PLoS One. 2013. PMID: 24339903 Free PMC article.
Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ.
Solé-Morata N, Villaescusa P, García-Fernández C, Font-Porterias N, Illescas MJ, Valverde L, Tassi F, Ghirotto S, Férec C, Rouault K, Jiménez-Moreno S, Martínez-Jarreta B, Pinheiro MF, Zarrabeitia MT, Carracedo Á, de Pancorbo MM, Calafell F. Solé-Morata N, et al. Among authors: rouault k. Sci Rep. 2017 Aug 4;7(1):7341. doi: 10.1038/s41598-017-07710-x. Sci Rep. 2017. PMID: 28779148 Free PMC article.
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. Among authors: rouault k. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.
New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia.
Valverde L, Illescas MJ, Villaescusa P, Gotor AM, García A, Cardoso S, Algorta J, Catarino S, Rouault K, Férec C, Hardiman O, Zarrabeitia M, Jiménez S, Pinheiro MF, Jarreta BM, Olofsson J, Morling N, de Pancorbo MM. Valverde L, et al. Among authors: rouault k. Eur J Hum Genet. 2016 Mar;24(3):437-41. doi: 10.1038/ejhg.2015.114. Epub 2015 Jun 17. Eur J Hum Genet. 2016. PMID: 26081640 Free PMC article.
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