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Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert JP. Andrieux J, et al. Among authors: roumier c. J Med Genet. 2007 Aug;44(8):537-40. doi: 10.1136/jmg.2006.048736. Epub 2007 Apr 27. J Med Genet. 2007. PMID: 17468296 Free PMC article.
Waved aCGH: to smooth or not to smooth.
Leprêtre F, Villenet C, Quief S, Nibourel O, Jacquemin C, Troussard X, Jardin F, Gibson F, Kerckaert JP, Roumier C, Figeac M. Leprêtre F, et al. Among authors: roumier c. Nucleic Acids Res. 2010 Apr;38(7):e94. doi: 10.1093/nar/gkp1215. Epub 2010 Jan 13. Nucleic Acids Res. 2010. PMID: 20071741 Free PMC article.
Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia.
Poulain S, Roumier C, Venet-Caillault A, Figeac M, Herbaux C, Marot G, Doye E, Bertrand E, Geffroy S, Lepretre F, Nibourel O, Decambron A, Boyle EM, Renneville A, Tricot S, Daudignon A, Quesnel B, Duthilleul P, Preudhomme C, Leleu X. Poulain S, et al. Among authors: roumier c. Clin Cancer Res. 2016 Mar 15;22(6):1480-8. doi: 10.1158/1078-0432.CCR-15-0646. Epub 2015 Oct 21. Clin Cancer Res. 2016. PMID: 26490317
73 results