Rossignol S - Search Results

1

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

Kaltenbach S, Capri Y, Rossignol S, Denjoy I, Soudée S, Aboura A, Baumann C, Verloes A. Kaltenbach S, et al. Among authors: rossignol s. Clin Genet. 2013 Jul;84(1):78-81. doi: 10.1111/cge.12038. Epub 2012 Nov 14. Clin Genet. 2013. PMID: 23061425

2

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Baujat G, et al. Among authors: rossignol s. Am J Hum Genet. 2004 Apr;74(4):715-20. doi: 10.1086/383093. Epub 2004 Mar 1. Am J Hum Genet. 2004. PMID: 14997421 Free PMC article.

3

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. 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.

4

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

5

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I. Abadie C, et al. Among authors: rossignol s. Eur J Med Genet. 2010 Nov-Dec;53(6):400-3. doi: 10.1016/j.ejmg.2010.08.006. Epub 2010 Sep 6. Eur J Med Genet. 2010. PMID: 20826236

6

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

7

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

8

Malformations, genetic abnormalities, and Wilms tumor.

Dumoucel S, Gauthier-Villars M, Stoppa-Lyonnet D, Parisot P, Brisse H, Philippe-Chomette P, Sarnacki S, Boccon-Gibod L, Rossignol S, Baumann C, Aerts I, Bourdeaut F, Doz F, Orbach D, Pacquement H, Michon J, Schleiermacher G. Dumoucel S, et al. Among authors: rossignol s. Pediatr Blood Cancer. 2014 Jan;61(1):140-4. doi: 10.1002/pbc.24709. Epub 2013 Aug 23. Pediatr Blood Cancer. 2014. PMID: 23970395

9

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M, Thibaud N, Faussat AM, Tauber M, Le Bouc Y, Netchine I. Brioude F, et al. Among authors: rossignol s. J Med Genet. 2013 Dec;50(12):823-30. doi: 10.1136/jmedgenet-2013-101691. Epub 2013 Sep 24. J Med Genet. 2013. PMID: 24065356

10

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

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