BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons. METHODS: To improve DNA diagnostics for patients with Usher syndrome, we developed a genotyping microarray based on the arrayed primer extension (APEX) method. Allele-specific oligonucleotides corresponding to all 298 Usher syndrome-associated sequence variants known to ...
Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and...
Abstract Background Usher syndrome (USH) combines sensorineural deafness with blindness. It is inher...
Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineur...
Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineur...
International audienceBACKGROUND:Usher syndrome is an autosomal recessive disease that associates se...
Contains fulltext : 108716.pdf (publisher's version ) (Open Access)Usher syndrome ...
<div><p>Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by...
International audienceBACKGROUND: Usher syndrome (USH) combines sensorineural deafness with blindnes...
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal rec...
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by visual ...
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by visual ...
Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and...
Abstract Background Usher syndrome (USH) combines sensorineural deafness with blindness. It is inher...
Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineur...
Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing los...
Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineur...
International audienceBACKGROUND:Usher syndrome is an autosomal recessive disease that associates se...
Contains fulltext : 108716.pdf (publisher's version ) (Open Access)Usher syndrome ...
<div><p>Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by...
International audienceBACKGROUND: Usher syndrome (USH) combines sensorineural deafness with blindnes...
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal rec...
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by visual ...
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by visual ...
Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and...
Abstract Background Usher syndrome (USH) combines sensorineural deafness with blindness. It is inher...
Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineur...