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Listar por Patrocinador "Fundación ONCE"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por Patrocinador "Fundación ONCE"

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    Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib 
    Espinós-Armero, Carmen Ángeles; Millán, Jose M.; Sánchez, F.; Beneyto, M.; Nájera, C. (Springer-Verlag, 1998-06)
    [EN] In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor ...
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    Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain 
    Espinós-Armero, Carmen Ángeles; Nájera, Carmen; Millán, José María; Ayuso, Carmen; Baiget, Montserrat; Pérez-Garrigues, Herminio; Rodrigo, Onofre; Vilela, Concepción; Beneyto, Magdalena (BMJ, 1998-05)
    [EN] Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically ...
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    Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome 
    Fuster García, Carla (Universitat Politècnica de València, 2020-02-17)
    [ES] El síndrome de Usher (USH) es un trastorno raro autosómico recesivo definido principalmente por sordera neurosensorial (SNHL), y una distrofia retiniana conocida como retinosis pigmentaria (RP). La patología muestra ...