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Acta Ophthalmologica|November 20, 2014
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 familiesPatricia Fernandez-San Jose, Fiona Blanco-Kelly, Marta Corton, et al.
Orvosi Hetilap|January 29, 2023
[Congenital aniridia - Hungarian data of a spectrum disease]Annamária Náray, Mária Csidey, Klaudia Kéki-Kovács, et al.
Plos One|February 25, 2016
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 CasesFiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, et al.
Scientific Reports|April 28, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRBLidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, et al.
Plos One|June 19, 2018
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish familiesRaquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, et al.
Orvosi Hetilap|July 9, 2023
[Staging of aniridia-associated keratopathy]Annamária Náray, Fabian Norbert Fries, Mária Csidey, et al.
American Journal of Ophthalmology|May 27, 2019
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, et al.
Orphanet Journal of Rare Diseases|August 15, 2020
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesisAndrey V Marakhonov, Anna A Voskresenskaya, Maria Jose Ballesta, et al.
Frontiers in Genetics|November 3, 2018
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and MicrophthalmiaMaría Tarilonte, Matías Morín, Patricia Ramos, et al.
Investigative Ophthalmology & Visual Science|February 4, 2022
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular DystrophiesMarta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, et al.
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