Rossignol S - Search Results

1

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: rossignol s. 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.

2

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y. Netchine I, et al. Among authors: rossignol s. Endocr Dev. 2012;23:60-70. doi: 10.1159/000341750. Epub 2012 Nov 23. Endocr Dev. 2012. PMID: 23182821

3

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: rossignol s. Horm Res Paediatr. 2013;80(6):457-65. doi: 10.1159/000355544. Epub 2013 Dec 4. Horm Res Paediatr. 2013. PMID: 24335096

4

Epigenetics in Silver-Russell syndrome.

Rossignol S, Netchine I, Le Bouc Y, Gicquel C. Rossignol S, et al. 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.

5

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: rossignol s. 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

6

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.

Azzi S, Rossignol S, Le Bouc Y, Netchine I. Azzi S, et al. Among authors: rossignol s. Epigenetics. 2010 Jul 1;5(5):373-7. doi: 10.4161/epi.5.5.11851. Epub 2010 Jul 1. Epigenetics. 2010. PMID: 20495355

7

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: rossignol s. Hum Mutat. 2011 Feb;32(2):249-58. doi: 10.1002/humu.21403. Hum Mutat. 2011. PMID: 21280150

8

Epigenetic anomalies in childhood growth disorders.

Netchine I, Rossignol S, Azzi S, Le Bouc Y. Netchine I, et al. Among authors: rossignol s. 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

9

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: rossignol s. 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

10

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.

Demars J, Shmela ME, Khan AW, Lee KS, Azzi S, Dehais P, Netchine I, Rossignol S, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: rossignol s. J Med Genet. 2014 Aug;51(8):502-11. doi: 10.1136/jmedgenet-2014-102368. Epub 2014 Jul 4. J Med Genet. 2014. PMID: 24996904

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