Results 31 to 40 of about 435 (138)
Scientific Reports, 2017 Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes – to date
Arif O. Khan +9 more
doaj +1 more source
Acta Ophthalmologica, EarlyView.Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa +5 more
wiley +1 more source
Current approaches for Usher syndrome disease models and developing therapies
Frontiers in Cell and Developmental BiologyUsher syndrome is a severely debilitating autosomal recessive disorder characterised by congenital or progressive hearing loss, gradual vision loss and in some subtypes, vestibular dysfunction.
Fiona K. Leith +17 more
doaj +1 more source
British Journal of Clinical Psychology, EarlyView.Abstract Objectives To synthesize current evidence and provide clinically actionable recommendations for integrating menstrual cycle‐related processes—particularly hormone sensitivity, Premenstrual Dysphoric Disorder (PMDD) and Premenstrual Exacerbation (PME)—into psychological assessment, formulation and treatment.
Ellen R. Lambert +2 more
wiley +1 more source
Orphanet Journal of Rare DiseasesBackground Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families.
L. Johansen +6 more
doaj +1 more source
Using Drosophila to study mechanisms of hereditary hearing loss
Disease Models & Mechanisms, 2018 Johnston's organ – the hearing organ of Drosophila – has a very different structure and morphology to that of the hearing organs of vertebrates. Nevertheless, it is becoming clear that vertebrate and invertebrate auditory organs share many physiological,
Tongchao Li +2 more
doaj +1 more source
British Journal of Learning Disabilities, EarlyView.ABSTRACT Background Educational access is key in empowering persons living with intellectual disabilities. Nevertheless, internationally, Persons with Intellectual Disabilities continue to experience marginalization and discrimination in accessing higher education.
Denise De Souza +8 more
wiley +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, EarlyView.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
USHER SYNDROME – CASE REPORT OF TWO SIBLINGS
Pakistan Armed Forces Medical Journal, 2009 INTRODUCTION Usher syndrome is an autosomal recessive disorder characterized by congenital sensory neural deafness and progressive visual loss secondary to retinitis pigmentosa.
Muhammad Afazal Naz +3 more
doaj +2 more sources
Mutational screening of the
Orphanet Journal of Rare Diseases, 2011 Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP).
Diaz-Llopis Manuel +13 more
doaj +1 more source