Avila-Fernandez A - Search Results

1

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C. Benaglio P, et al. Mol Vis. 2014 Jun 18;20:843-51. eCollection 2014. Mol Vis. 2014. PMID: 24959063 Free PMC article.

2

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.

Avila-Fernandez A, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Avila-Fernandez A, et al. Hum Genet. 2007 Jun;121(5):650-1. Hum Genet. 2007. PMID: 17879450 No abstract available.

3

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. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61. doi: 10.1167/iovs.07-0007. Invest Ophthalmol Vis Sci. 2007. PMID: 18055816

4

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Mol Vis. 2007 Nov 27;13:2160-2. Mol Vis. 2007. PMID: 18079693

5

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Riveiro-Alvarez R, et al. Mol Vis. 2008 Feb 4;14:262-7. Mol Vis. 2008. PMID: 18334942 Free PMC article.

6

Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Hum Genet. 2007 Sep;122(2):212. Hum Genet. 2007. PMID: 18386368 No abstract available.

7

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Avila-Fernandez A, et al. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2709-13. doi: 10.1167/iovs.07-0865. Invest Ophthalmol Vis Sci. 2008. PMID: 18515597

8

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. 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.

9

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. 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.

10

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50. doi: 10.1167/iovs.09-3418. Epub 2009 Mar 25. Invest Ophthalmol Vis Sci. 2009. PMID: 19324861

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