19 results for author:"Trujillo-Tiebas M.J." in Literature citations
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| [Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies]. Juan-Mateu J., Gallano P., Trujillo-Tiebas M.J. Med Clin (Barc) 139:307-312(2012) · Mapped (69) |
| Late onset retinitis pigmentosa. Avila-Fernandez A., Corton M., Lopez-Molina M.I., Martin-Garrido E., Cantalapiedra D., Fernandez-Sanchez R., Blanco-Kelly F., Riveiro-Alvarez R., Tatu S.D., Trujillo-Tiebas M.J. et al. Ophthalmology 118:2523-2524(2011) · Mapped (5) |
| Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Garcia-Hoyos M., Auz-Alexandre C.L., Almoguera B., Cantalapiedra D., Riveiro-Alvarez R., Lopez-Martinez M.A., Gimenez A., Blanco-Kelly F., Avila-Fernandez A., Trujillo-Tiebas M.J. et al. Mol. Vis. 17:1103-1109(2011) · Mapped (1) |
| A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. Cuadrado-Corrales N., Sanchez-Jimeno C., Garcia M., Escamez M.J., Illera N., Hernandez-Martin A., Trujillo-Tiebas M.J., Ayuso C., Del Rio M. BMC Med. Genet. 11:139-139(2010) · Mapped (2) |
| Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. Martinez-Garcia M., Riveiro-Alvarez R., Villaverde-Montero C., Cantalapiedra D., Garcia-Sandoval B., Ayuso C., Trujillo-Tiebas M.J. Clin. Experiment. Ophthalmol. 38:489-495(2010) · Mapped (1) |
| The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Escamez M.J., Garcia M., Cuadrado-Corrales N., Llames S.G., Charlesworth A., De Luca N., Illera N., Sanchez-Jimeno C., Holguin A., Duarte B. et al. Br. J. Dermatol. 163:155-161(2010) · Mapped (2) |
| Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis. Vallespin E., Avila-Fernandez A., Velez-Monsalve C., Almoguera B., Martinez-Garcia M., Gomez-Dominguez B., Gonzalez-Roubaud C., Cantalapiedra D., Trujillo-Tiebas M.J., Ayuso C. Hum. Genet. 127:119-119(2010) · UniProtKB (1) |
| Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. Garcia M., Escamez M.J., Cuadrado-Corrales N., Sanchez-Jimeno C., Illera N., Lopez-Martinez M.A., Trujillo-Tiebas M.J., Ayuso C., Del Rio M. Hum. Genet. 127:116-117(2010) · UniProtKB (1) |
| Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. Aguirre-Lamban J., Riveiro-Alvarez R., Garcia-Hoyos M., Cantalapiedra D., Avila-Fernandez A., Villaverde-Montero C., Trujillo-Tiebas M.J., Ramos C., Ayuso C. Invest. Ophthalmol. Vis. Sci. 51:2615-2619(2010) · Mapped (8) |
| Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Riveiro-Alvarez R., Trujillo-Tiebas M.J., Gimenez-Pardo A., Garcia-Hoyos M., Lopez-Martinez M.A., Aguirre-Lamban J., Garcia-Sandoval B., Vazquez-Fernandez del Pozo S., Cantalapiedra D., Avila-Fernandez A. et al. Invest. Ophthalmol. Vis. Sci. 50:4342-4350(2009) · Mapped (2) |
| 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 M.J., Ramos C., Ayuso C. Br. J. Ophthalmol. 93:614-621(2009) · UniProtKB (1) · Mapped (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 M.A., Trujillo-Tiebas M.J., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Ramos C., Ayuso C. Br. J. Ophthalmol. 93:1359-1364(2009) · UniProtKB (1) · Mapped (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 M.J., Ayuso C. Invest. Ophthalmol. Vis. Sci. 49:2709-2713(2008) · Mapped (4) |
| 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 M.J., Ayuso C. Mol. Vis. 14:262-267(2008) · Mapped (8) |
| 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 M.A., Cantalapiedra D., Riveiro-Alvarez R., Aguirre-Lamban J., Avila-Fernandez A., Villaverde C., Trujillo-Tiebas M.J., Ayuso C. Mol. Vis. 13:2160-2162(2007) · Mapped (4) |
| Gene symbol: CRB1. Vallespin E., Millan J.M., Riveiro-Alvarez R., Aguirre-Lamban J., Cantalapiedra D., Gallego J., Trujillo-Tiebas M.J., Ayuso C. Hum. Genet. 120:914-914(2007) · UniProtKB (1) |
| Gene symbol: CRB1. Disease: early onset retinitis pigmentosa. Vallespin E., Riveiro-Alvarez R., Aguirre-Lamban J., Cantalapiedra D., Tapias I., Garcia-Sandoval B., Trujillo-Tiebas M.J., Ayuso C. Hum. Genet. 119:681-681(2006) · UniProtKB (1) |
| Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. Garcia-Hoyos M., Garcia-Sandoval B., Cantalapiedra D., Riveiro R., Lorda-Sanchez I., Trujillo-Tiebas M.J., Rodriguez de Alba M., Millan J.M., Baiget M., Ramos C. et al. Invest. Ophthalmol. Vis. Sci. 47:3777-3782(2006) · Mapped (2) |
| Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Riveiro-Alvarez R., Trujillo-Tiebas M.J., Gimenez-Pardo A., Garcia-Hoyos M., Cantalapiedra D., Lorda-Sanchez I., Rodriguez de Alba M., Ramos C., Ayuso C. Mol. Vis. 11:705-712(2005) · UniProtKB (1) |