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Items: 11

1.

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.

Sci Rep. 2017 Aug 4;7(1):7341. doi: 10.1038/s41598-017-07710-x.

2.

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, Bejaoui M, Essaddam L, Ben-Becher S, Boughamoura L, Hassayoun S, Ben-Ali M, Barbouche MR.

Mol Immunol. 2017 Oct;90:57-63. doi: 10.1016/j.molimm.2017.06.248. Epub 2017 Jul 10.

PMID:
28704707
3.

A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel.

Prieto-Fernández E, Díaz-de Usera A, Baeta M, Núñez C, Chbel F, Nadifi S, Rouault K, Férec C, Hardiman O, Pinheiro F, de Pancorbo MM.

Forensic Sci Int Genet. 2017 Mar;27:167-171. doi: 10.1016/j.fsigen.2016.11.011. Epub 2016 Nov 30.

PMID:
27931869
4.

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.

J Clin Immunol. 2016 Aug;36(6):547-54. doi: 10.1007/s10875-016-0299-9. Epub 2016 May 25.

PMID:
27220316
5.

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.

Eur J Hum Genet. 2016 Mar;24(3):437-41. doi: 10.1038/ejhg.2015.114. Epub 2015 Jun 17.

6.

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.

PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013.

7.

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.

PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013.

8.

Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population.

Rouault K, Scotet V, Autret S, Gaucher F, Dubrana F, Tanguy D, El Rassi CY, Fenoll B, Férec C.

Osteoarthritis Cartilage. 2010 Sep;18(9):1144-9. doi: 10.1016/j.joca.2010.05.018. Epub 2010 Jul 13.

9.

Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population.

Rouault K, Scotet V, Autret S, Gaucher F, Dubrana F, Tanguy D, Yaacoub El Rassi C, Fenoll B, Férec C.

Osteoarthritis Cartilage. 2009 Aug;17(8):1099-105. doi: 10.1016/j.joca.2008.12.012. Epub 2009 Mar 24.

10.

Analysis of the first genome of a hyperthermophilic marine virus-like particle, PAV1, isolated from Pyrococcus abyssi.

Geslin C, Gaillard M, Flament D, Rouault K, Le Romancer M, Prieur D, Erauso G.

J Bacteriol. 2007 Jun;189(12):4510-9. Epub 2007 Apr 20.

11.

Genetic elements of Thermococcales.

Prieur D, Erauso G, Geslin C, Lucas S, Gaillard M, Bidault A, Mattenet AC, Rouault K, Flament D, Forterre P, Le Romancer M.

Biochem Soc Trans. 2004 Apr;32(Pt 2):184-7. Review.

PMID:
15046568

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