19 results for author:"Aller E." in Literature citations
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| Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. Jaijo T., Oshima A., Aller E., Carney C., Usami S., Millan J.M., Kimberling W.J. Mol. Vis. 18:1719-1726(2012) · Mapped (10) |
| Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Garcia-Garcia G., Aparisi M.J., Jaijo T., Rodrigo R., Leon A.M., Avila-Fernandez A., Blanco-Kelly F., Bernal S., Navarro R., Diaz-Llopis M. et al. Orphanet J Rare Dis 6:65-65(2011) · Mapped (1) |
| Novel mutations in the USH1C gene in Usher syndrome patients. Aparisi M.J., Garcia-Garcia G., Jaijo T., Rodrigo R., Graziano C., Seri M., Simsek T., Simsek E., Bernal S., Baiget M. et al. Mol. Vis. 16:2948-2954(2010) · Mapped (3) |
| Associations between dopamine D4 receptor gene variation with both infidelity and sexual promiscuity. Garcia J.R., MacKillop J., Aller E.L., Merriwether A.M., Wilson D.S., Lum J.K. PLoS ONE 5:e14162-e14162(2010) · Mapped (56) |
| Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. Aller E., Jaijo T., Garcia-Garcia G., Aparisi M.J., Blesa D., Diaz-Llopis M., Ayuso C., Millan J.M. Invest. Ophthalmol. Vis. Sci. 51:5480-5485(2010) · Mapped (10) |
| Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Aller E., Jaijo T., van Wijk E., Ebermann I., Kersten F., Garcia-Garcia G., Voesenek K., Aparisi M.J., Hoefsloot L., Cremers C. et al. Mol. Vis. 16:495-500(2010) · Mapped (2) |
| The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Aller E., Larrieu L., Jaijo T., Baux D., Espinos C., Gonzalez-Candelas F., Najera C., Palau F., Claustres M., Roux A.F. et al. Eur. J. Hum. Genet. 18:788-793(2010) · Mapped (1) |
| 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) |
| Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Alias L., Bernal S., Fuentes-Prior P., Barcelo M.J., Also E., Martinez-Hernandez R., Rodriguez-Alvarez F.J., Martin Y., Aller E., Grau E. et al. Hum. Genet. 125:29-39(2009) · Mapped (10) |
| Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Oshima A., Jaijo T., Aller E., Millan J.M., Carney C., Usami S., Moller C., Kimberling W.J. |
| 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) |
| A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Ebermann I., Scholl H.P.N., Charbel Issa P., Becirovic E., Lamprecht J., Jurklies B., Millan J.M., Aller E., Mitter D., Bolz H. |
| 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) |
| The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. van Wijk E., van der Zwaag B., Peters T., Zimmermann U., Te Brinke H., Kersten F.F.J., Maerker T., Aller E., Hoefsloot L.H., Cremers C.W.R.J. et al. Hum. Mol. Genet. 15:751-765(2006) · UniProtKB (3) · Mapped (26) |
| 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) |
| 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) |