21 results for author:"Beneyto M." in Literature citations
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| SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. Fernandez-Cancio M., Audi L., Andaluz P., Toran N., Piro C., Albisu M., Gussinye M., Yeste D., Clemente M., Martinez-Mora J. et al. Int. J. Androl. 34:e526-35(2011) · Mapped (1) |
| Lamina- and cell-specific alterations in cortical somatostatin receptor 2 mRNA expression in schizophrenia. Beneyto M., Morris H.M., Rovensky K.C., Lewis D.A. Neuropharmacology 62:1598-1605(2012) · Mapped (2) |
| Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia. Beneyto M., Abbott A., Hashimoto T., Lewis D.A. Cereb. Cortex 21:999-1011(2011) · Mapped (23) |
| Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. Audi L., Fernandez-Cancio M., Carrascosa A., Andaluz P., Toran N., Piro C., Vilaro E., Vicens-Calvet E., Gussinye M., Albisu M.A. et al. J. Clin. Endocrinol. Metab. 95:1876-1888(2010) · Mapped (11) |
| Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Jaijo T., Aller E., Garcia-Garcia G., Aparisi M.J., Bernal S., Avila-Fernandez A., Barragan I., Baiget M., Ayuso C., Antinolo G. et al. Invest. Ophthalmol. Vis. Sci. 51:1311-1317(2010) · Mapped (25) |
| Severe and moderate hemophilia A: identification of 38 new genetic alterations. Casana P., Cabrera N., Cid A.R., Haya S., Beneyto M., Espinos C., Cortina V., Dasi M.A., Aznar J.A. Haematologica 93:1091-1094(2008) · Mapped (12) |
| Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. Aller E., Jaijo T., Beneyto M., Najera C., Morera C., Perez-Garrigues H., Ayuso C., Millan J. Ophthalmic Genet. 28:151-155(2007) · Mapped (3) |
| MYO7A mutation screening in Usher syndrome type I patients from diverse origins. Jaijo T., Aller E., Beneyto M., Najera C., Graziano C., Turchetti D., Seri M., Ayuso C., Baiget M., Moreno F. et al. J. Med. Genet. 44:e71-e71(2007) · Mapped (4) |
| Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. Aller E., Jaijo T., Beneyto M., Najera C., Oltra S., Ayuso C., Baiget M., Carballo M., Antinolo G., Valverde D. et al. J. Med. Genet. 43:E55-E55(2006) · UniProtKB (1) |
| Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Jaijo T., Aller E., Oltra S., Beneyto M., Najera C., Ayuso C., Baiget M., Carballo M., Antinolo G., Valverde D. et al. Hum. Mutat. 27:290-291(2006) · Mapped (4) |
| Metabotropic glutamate receptor protein expression in the prefrontal cortex and striatum in schizophrenia. Gupta D.S., McCullumsmith R.E., Beneyto M., Haroutunian V., Davis K.L., Meador-Woodruff J.H. Synapse 57:123-131(2005) · Mapped (2) |
| Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Aller E., Jaijo T., Oltra S., Alio J., Galan F., Najera C., Beneyto M., Millan J.M. Clin. Genet. 66:525-529(2004) · UniProtKB (1) |
| Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Aller E., Najera C., Millan J.M., Oltra J.S., Perez-Garrigues H., Vilela C., Navea A., Beneyto M. Eur. J. Hum. Genet. 12:407-410(2004) · UniProtKB (1) |
| Growth and specification of the eye are controlled independently by Eyegone and Eyeless in Drosophila melanogaster. Dominguez M., Ferres-Marco D., Gutierrez-Avino F.J., Speicher S.A., Beneyto M. Nat. Genet. 36:31-39(2004) · Mapped (50) |
| Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Martinez-Gimeno M., Gamundi M.J., Hernan I., Maseras M., Milla E., Ayuso C., Garcia-Sandoval B., Beneyto M., Vilela C., Baiget M. et al. Invest. Ophthalmol. Vis. Sci. 44:2171-2177(2003) · UniProtKB (2) · Mapped (14) |
| Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Najera C., Beneyto M., Blanca J., Aller E., Fontcuberta A., Millan J.M., Ayuso C. Hum. Mutat. 20:76-77(2002) · UniProtKB (2) |
| Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Miano M.G., Testa F., Strazzullo M., Trujillo M., De Bernardo C., Grammatico B., Simonelli F., Mangino M., Torrente I., Ruberto G. et al. Eur. J. Hum. Genet. 7:687-694(1999) · UniProtKB (1) |
| Identification of three novel mutations in the MYO7A gene. Cuevas J.M., Espinos C., Millan J.M., Sanchez F., Trujillo M.J., Ayuso C., Beneyto M., Najera C. Hum. Mutat. 14:181-181(1999) · UniProtKB (1) |
| Putative association of a mutant ROM1 allele with retinitis pigmentosa. Martinez-Mir A., Vilela C., Bayes M., Valverde D., Dain L., Beneyto M., Marco M., Baiget M., Grinberg D., Balcells S. et al. Hum. Genet. 99:827-830(1997) · Mapped (1) |
| Genetics of retinoblastoma: a study. Mateu E., Sanchez F., Najera C., Beneyto M., Castell V., Hernandez M., Serra I., Prieto F. Cancer Genet. Cytogenet. 95:40-50(1997) · UniProtKB (1) |
| Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. Gruning G., Millan J.M., Meins M., Beneyto M., Caballero M., Apfelstedt-Sylla E., Bosch R., Zrenner E., Prieto F., Gal A. Hum. Mutat. 3:321-323(1994) · UniProtKB (1) |