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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A. Vuillaume ML, et al. Among authors: rossignol s. Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Hum Mutat. 2018. PMID: 29637653
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.
Perlman syndrome: report, prenatal findings and review.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Alessandri JL, et al. Among authors: rossignol s. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. Am J Med Genet A. 2008. PMID: 18780370 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: 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
Epigenetics, genomic imprinting and assisted reproductive technology.
Le Bouc Y, Rossignol S, Azzi S, Steunou V, Netchine I, Gicquel C. Le Bouc Y, et al. Among authors: rossignol s. Ann Endocrinol (Paris). 2010 May;71(3):237-8. doi: 10.1016/j.ando.2010.02.004. Epub 2010 Apr 2. Ann Endocrinol (Paris). 2010. PMID: 20362968
[Epigenetics, genomic imprinting and developmental disorders].
Le Bouc Y, Rossignol S, Azzi S, Brioude F, Cabrol S, Gicquel C, Netchine I. Le Bouc Y, et al. Among authors: rossignol s. Bull Acad Natl Med. 2010 Feb;194(2):287-97; discussion 297-300. Bull Acad Natl Med. 2010. PMID: 21166119 French.
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: rossignol s. Hum Mutat. 2011 Oct;32(10):1171-82. doi: 10.1002/humu.21558. Epub 2011 Sep 8. Hum Mutat. 2011. PMID: 21780245 Free article.
240 results