Le Bouc Y - Search Results

1

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS).

Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M. Bliek J, et al. Among authors: le bouc y. J Pediatr. 2004 Dec;145(6):796-9. doi: 10.1016/j.jpeds.2004.08.007. J Pediatr. 2004. PMID: 15580204

2

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.

3

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.

Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y. Gicquel C, et al. Among authors: le bouc y. Am J Hum Genet. 2003 May;72(5):1338-41. doi: 10.1086/374824. Am J Hum Genet. 2003. PMID: 12772698 Free PMC article. No abstract available.

4

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. Gaston V, et al. Among authors: le bouc y. Eur J Hum Genet. 2001 Jun;9(6):409-18. doi: 10.1038/sj.ejhg.5200649. Eur J Hum Genet. 2001. PMID: 11436121

5

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C. Gaston V, et al. Among authors: le bouc y. Horm Res. 2000;54(1):1-5. doi: 10.1159/000063429. Horm Res. 2000. PMID: 11182628

6

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C. Rossignol S, et al. Among authors: le bouc y. J Med Genet. 2006 Dec;43(12):902-7. doi: 10.1136/jmg.2006.042135. Epub 2006 Jul 6. J Med Genet. 2006. PMID: 16825435 Free PMC article.

7

Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes.

Demars J, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: le bouc y. Curr Med Chem. 2011;18(12):1740-50. doi: 10.2174/092986711795496764. Curr Med Chem. 2011. PMID: 21466477

8

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.

Brioude F, Lacoste A, Netchine I, Vazquez MP, Auber F, Audry G, Gauthier-Villars M, Brugieres L, Gicquel C, Le Bouc Y, Rossignol S. Brioude F, et al. Among authors: le bouc y. Horm Res Paediatr. 2013;80(6):457-65. doi: 10.1159/000355544. Epub 2013 Dec 4. Horm Res Paediatr. 2013. PMID: 24335096

9

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

10

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I. Azzi S, et al. Among authors: le bouc y, le jule m. Hum Mutat. 2011 Feb;32(2):249-58. doi: 10.1002/humu.21403. Hum Mutat. 2011. PMID: 21280150

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