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Author Title Type [ Year(Desc)]
Filters: Keyword is Retina  [Clear All Filters]
2014
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
2015
Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.
2016
Corton M, Avila-Fernández A, Campello L, et al. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:35370. doi:10.1038/srep35370.