Works matching Usher
Results: 5000
Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II.
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- Biomédica: Revista del Instituto Nacional de Salud, 2011, v. 31, n. 1, p. 82, doi. 10.7705/biomedica.v31i1.338
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- Article
A Rare Case of Psychosis in Ushers's Syndrome in Absence of Hallucinations.
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- Selcuk University Medical Journal, 2021, v. 37, n. 3, p. 276, doi. 10.30733/std.2021.01514
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- Article
Respuesta inmune frente a antígenos de retina en pacientes con retinitis pigmentosa y síndrome de Usher.
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- Universitas Médica, 2009, v. 50, n. 1, p. 20
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- Article
Audiological findings in Usher syndrome types IIa and II (non-IIa).
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- International Journal of Audiology, 2004, v. 43, n. 3, p. 136, doi. 10.1080/14992020400050019
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- Article
THE BENEFITS OF EARLY COCHLEAR IMPLANTATION FOR SPEECH DEVELOPMENT IN CHILDREN WITH USHER SYNDROME: LITERATURE REVIEW.
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- Journal of Hearing Science, 2024, v. 14, n. 1, p. 21, doi. 10.17430/jhs/187260
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- Article
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868
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- Article
Usher syndrome with psychotic symptoms: Two cases in the same family.
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- Psychiatry & Clinical Neurosciences, 2006, v. 60, n. 5, p. 626, doi. 10.1111/j.1440-1819.2006.01568.x
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- Article
The changing face of Usher syndrome: Clinical implications.
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- International Journal of Audiology, 2007, v. 46, n. 2, p. 82, doi. 10.1080/14992020600975279
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- Article
Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome.
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- Research Involvement & Engagement, 2018, v. 4, n. 1, p. N.PAG, doi. 10.1186/s40900-018-0124-0
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- Article
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
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- BMC Ophthalmology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12886-022-02353-7
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- Article
A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09603-5
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- Article
Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients.
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- Audiology & Neurotology, 2005, v. 10, n. 2, p. 79, doi. 10.1159/000083363
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- Article
Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.
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- Biomedicines, 2023, v. 11, n. 10, p. 2657, doi. 10.3390/biomedicines11102657
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- Article
Comparison of Topical Dorzolamide and Ketorolac Treatment for Cystoid Macular Edema in Retinitis Pigmentosa and Usher's Syndrome.
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- Ophthalmologica, 2015, v. 233, n. 1, p. 43, doi. 10.1159/000368052
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- Article
USHER SYNDROME AND ITS GENETIC CHARACTERIZATION.
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- Pakistan Journal of Science, 2022, v. 74, p. 392
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- Article
USHER SYNDROME AND ITS GENETIC CHARACTERIZATION.
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- Pakistan Journal of Science, 2022, v. 74, n. 5, p. 392
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- Article
Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review.
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- Disability & Rehabilitation, 2020, v. 42, n. 19, p. 2809, doi. 10.1080/09638288.2019.1571637
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- Article
A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03348-x
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- Article
Usher syndrome associated with Fuchs’ heterochromic uveitis.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2010, v. 248, n. 10, p. 1481, doi. 10.1007/s00417-010-1429-3
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- Article
Genetic Screening of the Usher Syndrome in Cuba.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501
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- Article
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
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- Genes, 2022, v. 13, n. 8, p. 1423, doi. 10.3390/genes13081423
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- Article
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.
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- Genes, 2019, v. 10, n. 10, p. 732, doi. 10.3390/genes10100732
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- Article
Usher syndrome, an unseen/hidden disability: a phenomenological study of adults across the lifespan living in England.
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- Disability & Society, 2022, v. 37, n. 10, p. 1636, doi. 10.1080/09687599.2021.1889981
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- Article
A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome.
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- Frontiers in Cellular Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fncel.2020.00183
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- Article
Type 2 Usher Syndrome – A Cause for Sensorineural Hearing Loss.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2024, v. 76, n. 6, p. 5228, doi. 10.1007/s12070-024-04953-9
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- Article
Hearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2023, v. 75, n. 4, p. 4093, doi. 10.1007/s12070-023-03970-4
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- Article
Cochlear Implantation in Children with Usher's Syndrome: A South Asian Experience.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2020, v. 72, n. 1, p. 140, doi. 10.1007/s12070-019-01759-y
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- Article
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
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- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420952194
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- Article
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
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- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420952194
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- Article
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.
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- Ophthalmic Genetics, 2007, v. 28, n. 3, p. 151, doi. 10.1080/13816810701537374
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- Article
Novel Mutations in MYO7A and USH2A in Usher Syndrome.
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- Ophthalmic Genetics, 2005, v. 26, n. 1, p. 25, doi. 10.1080/13816810590918118
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- Article
Usher Syndrome.
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- Audiology Research, 2022, v. 12, n. 1, p. 42, doi. 10.3390/audiolres12010005
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- Article
Postural Instability in Subjects With Usher Syndrome.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00830
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- Article
A Network Analysis Approach to Detect and Differentiate Usher Syndrome Types Using miRNA Expression Profiles: A Pilot Study.
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- BioMedInformatics, 2024, v. 4, n. 4, p. 2271, doi. 10.3390/biomedinformatics4040122
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- Article
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 531, doi. 10.1002/mgg3.312
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Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 393, doi. 10.1002/mgg3.92
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- Article
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.
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- Ophthalmology & Therapy, 2020, v. 9, n. 3, p. 677, doi. 10.1007/s40123-020-00276-4
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- Article
Living with Usher Syndrome: Patient and Physician Perspectives.
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- Ophthalmology & Therapy, 2020, v. 9, n. 3, p. 1, doi. 10.1007/s40123-020-00258-6
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- Article
Empowering People Experiencing Usher Syndrome as Participants in Research.
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- British Journal of Social Work, 2017, v. 47, n. 8, p. 2328, doi. 10.1093/bjsw/bcw147
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- Article
Outcomes of Late Implantation in Usher Syndrome Patients.
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- International Archives of Otorhinolaryngology, 2017, v. 21, n. 2, p. 140, doi. 10.1055/s-0036-1583306
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- Article
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.
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- Clinical Genetics, 2017, v. 92, n. 1, p. 26, doi. 10.1111/cge.12895
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- Article
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation.
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- Clinical Genetics, 2005, v. 68, n. 3, p. 204, doi. 10.1111/j.1399-0004.2005.00481.x
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- Article
Mutation screening ofUSH3gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
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- Clinical Genetics, 2004, v. 66, n. 6, p. 525, doi. 10.1111/j.1399-0004.2004.00352.x
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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
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- 2020
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- journal article
Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
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- 2020
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- journal article
A Natural Occurring Mouse Model with <bold>Adgrv1</bold> Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains.
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- Cellular Physiology & Biochemistry (Karger AG), 2018, v. 47, n. 5, p. 1883, doi. 10.1159/000491068
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Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.
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- Journal of Intellectual Disability Research, 1999, v. 43, n. 5, p. 428, doi. 10.1046/j.1365-2788.1999.043005428.x
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- Article
A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7603, doi. 10.3390/ijms24087603
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New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.
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- 2022
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- Literature Review
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13294, doi. 10.3390/ijms222413294
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- Article