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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Latypova X, et al. Among authors: orellana c. Am J Hum Genet. 2021 May 6;108(5):929-941. doi: 10.1016/j.ajhg.2021.03.017. Epub 2021 Apr 2. Am J Hum Genet. 2021. PMID: 33811806 Free PMC article.
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
Lossi AM, Millán JM, Villard L, Orellana C, Cardoso C, Prieto F, Fontés M, Martínez F. Lossi AM, et al. Among authors: orellana c. Am J Hum Genet. 1999 Aug;65(2):558-62. doi: 10.1086/302499. Am J Hum Genet. 1999. PMID: 10417298 Free PMC article. No abstract available.
Recombinant X chromosome in a prenatal diagnosis.
Orellana C, Badía L, Martínez F, Oltra JS, Monfort S, Roselló M, Cervera JV, García Z, Prieto F. Orellana C, et al. Cytogenet Genome Res. 2006;112(3-4):337-40. doi: 10.1159/000089890. Cytogenet Genome Res. 2006. PMID: 16484792
265 results