Lopez-Martinez MA - Search Results

1

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

2

Gene symbol: CRB1.

Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Martinez MA, Gallego-Merlo J, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Hum Genet. 2007 Apr;121(2):287-8. Hum Genet. 2007. PMID: 17598198 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

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Aguirre J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C. Aguirre J, et al. Hum Genet. 2007 Dec;122(5):548. Hum Genet. 2007. PMID: 18380025 No abstract available.

5

Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Lamban JA, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Villaverde C, Avila-Fernandez A, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C. Lamban JA, et al. Hum Genet. 2007 Sep;122(2):211. Hum Genet. 2007. PMID: 18386363 No abstract available.

6

Gene symbol: CHM. Disease: Choroideraemia.

Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, Ayuso C. Villaverde C, et al. Hum Genet. 2008 Oct;124(3):302. Hum Genet. 2008. PMID: 18846629 No abstract available.

7

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.

8

Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular.

Martinez-Garcia M, Trujillo-Tiebas MJ, Villaverde C, López-Martínez MA, Ayuso C. Martinez-Garcia M, et al. Hum Genet. 2009 Apr;125(3):349. Hum Genet. 2009. PMID: 19320034 No abstract available.

9

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

10

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

García M, Escamez MJ, Cuadrado-Corrales N, Sánchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tiebas MJ, Ayuso C, Del Río M. García M, et al. Hum Genet. 2010 Jan;127(1):116-7. Hum Genet. 2010. PMID: 20108428 No abstract available.

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