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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: le bouc y. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Epigenetics in Silver-Russell syndrome.
Rossignol S, Netchine I, Le Bouc Y, Gicquel C. Rossignol S, et al. Among authors: le bouc y. Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):403-14. doi: 10.1016/j.beem.2008.01.012. Best Pract Res Clin Endocrinol Metab. 2008. PMID: 18538282 Review.
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. Azzi S, et al. Among authors: le bouc y, le jule m. Hum Mol Genet. 2009 Dec 15;18(24):4724-33. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14. Hum Mol Genet. 2009. PMID: 19755383
Epigenetic anomalies in childhood growth disorders.
Netchine I, Rossignol S, Azzi S, Le Bouc Y. Netchine I, et al. Among authors: le bouc y. Nestle Nutr Inst Workshop Ser. 2013;71:65-73. doi: 10.1159/000342568. Epub 2013 Jan 22. Nestle Nutr Inst Workshop Ser. 2013. PMID: 23502140
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S. Keren B, et al. Among authors: le bouc y. Eur J Med Genet. 2013 Oct;56(10):546-50. doi: 10.1016/j.ejmg.2013.06.005. Epub 2013 Jul 24. Eur J Med Genet. 2013. PMID: 23892181
220 results