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Page 1
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Toulis V, Cortés-González V, Castro-Miró M, Sallum JF, Català-Mora J, Villanueva-Mendoza C, Ciccioli M, Gonzàlez-Duarte R, Valero R, Marfany G. Toulis V, et al. Among authors: castro miro m. Genes (Basel). 2020 Mar 31;11(4):378. doi: 10.3390/genes11040378. Genes (Basel). 2020. PMID: 32244552 Free PMC article.
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. Littink KW, et al. Among authors: de castro miro m. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3. Invest Ophthalmol Vis Sci. 2010. PMID: 20130272
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP. Collin RW, et al. Among authors: de castro miro m. Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185. Invest Ophthalmol Vis Sci. 2011. PMID: 21217109
11 results