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Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I. van Gijn ME, et al. Among authors: philibert l. Eur J Hum Genet. 2008 Nov;16(11):1404-6. doi: 10.1038/ejhg.2008.135. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648395
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG. Parry DA, et al. Among authors: philibert l. Am J Hum Genet. 2011 Sep 9;89(3):451-8. doi: 10.1016/j.ajhg.2011.08.002. Epub 2011 Sep 1. Am J Hum Genet. 2011. PMID: 21885028 Free PMC article.
Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.
Puechberty J, Rittore C, Philibert L, Lefort G, Burlet G, Bénos P, Reyftmann L, Sarda P, Touitou I. Puechberty J, et al. Among authors: philibert l. Clin Genet. 2009 Mar;75(3):298-300. doi: 10.1111/j.1399-0004.2008.01098.x. Epub 2008 Nov 20. Clin Genet. 2009. PMID: 19054016 No abstract available.
[Interest of UGT1A1 genotyping within digestive cancers treatment by irinotecan].
Boyer JC, Etienne-Grimaldi MC, Thomas F, Quaranta S, Picard N, Loriot MA, Poncet D, Gagnieu MC, Ged C, Broly F, Le Morvan V, Bouquié R, Gaub MP, Philibert L, Ghiringhelli F, Le Guellec C. Boyer JC, et al. Among authors: philibert l. Bull Cancer. 2014 Jun;101(6):533-53. doi: 10.1684/bdc.2014.1933. Bull Cancer. 2014. PMID: 24977443 Review. French.
53 results