Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. - Wikidata - wikimedia - TriplyDB

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

http://www.wikidata.org/entity/Q35091543

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Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.Genetics of Hearing Loss: Syndromic Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.Partial USH2A deletions contribute to Usher syndrome in Denmark.Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.Usher syndrome in Denmark: mutation spectrum and some clinical observations Usher proteins in inner ear structure and function An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Correction of Monogenic and Common Retinal Disorders with Gene Therapy.Clinical utility gene card for: Usher syndrome.Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature.Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Prevalence and characteristics of self-reported physical and mental disorders among adults with hearing loss in Denmark: a national survey.Non-coding RNAs as drug targets.The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.Gene and cell-based therapies for inherited retinal disorders: An update.

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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

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2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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P2860

Early diagnosis of Usher syndrome in children

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

Does eating particular diets alter the risk of age-related macular degeneration in users of the Age-Related Eye Disease Study supplements?

Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

Massively parallel sequencing: the next big thing in genetic medicine

Next-generation sequencing: from basic research to diagnostics

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa

RPE65: role in the visual cycle, human retinal disease, and gene therapy.

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