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CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, Nicolescu R, Cohen L, Zagury JF, Amouyal M, Weill J, Muller J, Sand O, Delobel B, Froguel P, Bonnefond A. Montagne L, et al. Among authors: froguel p. Mol Metab. 2018 Jul;13:1-9. doi: 10.1016/j.molmet.2018.05.005. Epub 2018 May 16. Mol Metab. 2018. PMID: 29784605 Free PMC article.
Variation in FTO contributes to childhood obesity and severe adult obesity.
Dina C, Meyre D, Gallina S, Durand E, Körner A, Jacobson P, Carlsson LM, Kiess W, Vatin V, Lecoeur C, Delplanque J, Vaillant E, Pattou F, Ruiz J, Weill J, Levy-Marchal C, Horber F, Potoczna N, Hercberg S, Le Stunff C, Bougnères P, Kovacs P, Marre M, Balkau B, Cauchi S, Chèvre JC, Froguel P. Dina C, et al. Among authors: froguel p. Nat Genet. 2007 Jun;39(6):724-6. doi: 10.1038/ng2048. Epub 2007 May 13. Nat Genet. 2007. PMID: 17496892
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.
de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. de Smith AJ, et al. Among authors: froguel p. Hum Mol Genet. 2007 Dec 1;16(23):2783-94. doi: 10.1093/hmg/ddm208. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17666407
804 results