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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D. Gras D, et al. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C. Nava C, et al. Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1. Eur J Hum Genet. 2014. PMID: 23632794 Free PMC article.
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. 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
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M. Mignot C, et al. Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173. Orphanet J Rare Dis. 2013. PMID: 24164873 Free PMC article.
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, Netchine I. Abi Habib W, et al. Hum Mol Genet. 2014 Nov 1;23(21):5763-73. doi: 10.1093/hmg/ddu290. Epub 2014 Jun 10. Hum Mol Genet. 2014. PMID: 24916376
95 results