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Molecular Vision|April 15, 2009
ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysisSusana Maia-Lopes, Jana Aguirre-Lamban, Miguel Castelo-Branco, et al.
Human Genome Variation|April 16, 2016
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiencyCristina Cervera-Acedo, Maria Lopez, Jana Aguirre-Lamban, et al.
Investigative Ophthalmology & Visual Science|February 28, 2007
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patientsDiana Valverde, Rosa Riveiro-Alvarez, Jana Aguirre-Lamban, et al.
Molecular Vision|March 13, 2008
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosaRosa Riveiro-Alvarez, Elena Vallespin, Robert Wilke, et al.
Investigative Ophthalmology & Visual Science|December 5, 2009
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 geneJana Aguirre-Lamban, Rosa Riveiro-Alvarez, Maria Garcia-Hoyos, et al.
Molecular Vision|December 15, 2007
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosaElena Vallespin, Miguel-Angel Lopez-Martinez, Diego Cantalapiedra, et al.
Investigative Ophthalmology & Visual Science|June 3, 2008
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosaAlmudena Avila-Fernandez, Rosa Riveiro-Alvarez, Elena Vallespin, et al.
Investigative Ophthalmology & Visual Science|February 19, 2011
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factorsJana Aguirre-Lamban, Juan José González-Aguilera, Rosa Riveiro-Alvarez, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarrayElena Vallespin, Diego Cantalapiedra, Rosa Riveiro-Alvarez, et al.
Investigative Ophthalmology & Visual Science|March 28, 2009
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisisRosa Riveiro-Alvarez, Maria-Jose Trujillo-Tiebas, Ascension Gimenez-Pardo, et al.
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