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Journal Articles (5)

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Investigative Ophthalmology & Visual Science (5)

Article Type

Retina (3)
Biochemistry and Molecular Biology (1)
Clinical and Epidemiologic Research (1)

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Genetics (5)
Retina (3)
Biochemistry and Molecular Biology (1)
Clinical and Epidemiologic Research (1)
Eye Anatomy and Disorders (1)

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mutation (5)
family (4)
genes (4)
spanish (4)
haplotypes (3)
exons (2)
screening (2)
choroideremia (1)
exanthema (1)
eye (1)

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Retina May 2010

Comparison of High-Resolution Melting Analysis with Denaturing High-Performance Liquid Chromatography for Mutation Scanning in the ABCA4 Gene

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Jana Aguirre-Lamban; Rosa Riveiro-Alvarez; Maria Garcia-Hoyos; Diego Cantalapiedra; Almudena Avila-Fernandez; Cristina Villaverde-Montero; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
TAGS: mutation, liquid chromatography, exons, genes, high-resolution melt curve analysis
Invest. Ophthalmol. Vis. Sci.. 2010; 51(5):2615-2619. doi: 10.1167/iovs.09-4518

Retina September 2009

Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

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Rosa Riveiro-Alvarez; Maria-Jose Trujillo-Tiebas; Ascension Gimenez-Pardo; Maria Garcia-Hoyos; Miguel-Angel Lopez-Martinez; Jana Aguirre-Lamban; Blanca Garcia-Sandoval; Silvia Vazquez-Fernandez del Pozo; Diego Cantalapiedra; Almudena Avila-Fernandez; Montserrat Baiget; Carmen Ramos; Carmen Ayuso
TAGS: mutation, exanthema, family, genes, haplotypes, eye, genetics, x-linked retinoschisis, spanish
Invest. Ophthalmol. Vis. Sci.. 2009; 50(9):4342-4350. doi: 10.1167/iovs.09-3418

Biochemistry and Molecular Biology April 2008

New Type of Mutations in Three Spanish Families with Choroideremia

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Maria Garcia-Hoyos; Isabel Lorda-Sanchez; Pilar Gómez-Garre; Cristina Villaverde; Diego Cantalapiedra; Ana Bustamante; Dan Diego-Alvarez; Elena Vallespin; Jesus Gallego-Merlo; Maria Jose Trujillo; Carmen Ramos; Carmen Ayuso
TAGS: mutation, choroideremia, family, genes, haplotypes, proteins, spanish
Invest. Ophthalmol. Vis. Sci.. 2008; 49(4):1315-1321. doi: 10.1167/iovs.07-1169

Retina December 2007

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

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Elena Vallespin; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Robert Wilke; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Miguel Angel Lopez-Martinez; Ascension Gimenez; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
TAGS: mutation, family, screening, leber's amaurosis, genotype determination, spanish, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5653-5661. doi: 10.1167/iovs.07-0007

Clinical and Epidemiologic Research September 2006

Mutational Screening of the RP2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa

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Maria García-Hoyos; Blanca Garcia-Sandoval; Diego Cantalapiedra; Rosa Riveiro; Isabel Lorda-Sánchez; Maria Jose Trujillo-Tiebas; Marta Rodriguez de Alba; Jose Maria Millan; Monserrat Baiget; Carmen Ramos; Carmen Ayuso
TAGS: mutation, exons, family, genes, haplotypes, retinitis pigmentosa, x-linked inheritance, screening, spanish
Invest. Ophthalmol. Vis. Sci.. 2006; 47(9):3777-3782. doi: 10.1167/iovs.06-0323

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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