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Page 1
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Riveiro-Alvarez R, et al. Among authors: cantalapiedra d. Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4. Ophthalmology. 2013. PMID: 23755871 Free PMC article.
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: cantalapiedra d. Br J Ophthalmol. 2009 Oct;93(10):1359-64. doi: 10.1136/bjo.2008.148155. Epub 2008 Oct 31. Br J Ophthalmol. 2009. PMID: 18977788 Free PMC article. Review.
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Br J Ophthalmol. 2009 May;93(5):614-21. doi: 10.1136/bjo.2008.145193. Epub 2008 Nov 21. Br J Ophthalmol. 2009. PMID: 19028736 Free PMC article.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Jun;123(5):544. Hum Genet. 2008. PMID: 20960624 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Jun;123(5):546. Hum Genet. 2008. PMID: 20960628 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, Ayuso C. Aguirre-Lambán J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Jun;123(5):547. Hum Genet. 2008. PMID: 20960632 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Jun;123(5):547. Hum Genet. 2008. PMID: 20960633 No abstract available.
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Vallespin E, et al. Among authors: cantalapiedra d. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61. doi: 10.1167/iovs.07-0007. Invest Ophthalmol Vis Sci. 2007. PMID: 18055816
73 results