Works matching DE "USHER'S syndrome"
Results: 401
The Relationship between Usher's Syndrome and Psychosis with Capgras Syndrome.
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- Psychiatry: Interpersonal & Biological Processes, 2001, v. 64, n. 3, p. 248, doi. 10.1521/psyc.64.3.248.18467
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Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.
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- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 39, doi. 10.1007/s10633-021-09818-y
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Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.
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- Documenta Ophthalmologica, 2020, v. 141, n. 3, p. 205, doi. 10.1007/s10633-020-09765-0
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Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
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- Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8
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Unanticipated prognosis for a patient with type 2 Usher syndrome.
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- Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 161, doi. 10.1007/s10633-019-09677-8
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Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 10, p. 3375, doi. 10.1007/s00417-024-06545-3
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Multidisciplinary approach to inherited causes of dual sensory impairment.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 3, p. 701, doi. 10.1007/s00417-023-06153-7
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Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.
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- Communications Biology, 2025, p. 1, doi. 10.1038/s42003-025-07557-3
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Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
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- Journal of Cell Biology, 2017, v. 216, n. 6, p. 1849, doi. 10.1083/jcb.201612030
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Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
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- Journal of Cell Biology, 2016, v. 212, n. 2, p. 231, doi. 10.1083/jcb.201509017
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Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
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- Journal of Cell Biology, 2012, v. 199, n. 2, p. 381, doi. 10.1083/jcb.201202012
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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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Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa.
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- Ophthalmic Genetics, 2008, v. 29, n. 1, p. 29, doi. 10.1080/13816810701663535
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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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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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Prevalence of 2314delG mutation in Spanish patients with Ushersyndrome type II (USH2).
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- Ophthalmic Genetics, 2000, v. 21, n. 2, p. 123, doi. 10.1076/1381-6810(200006)21:2;1-8;FT123
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Normal range of hearing associated with myocilin Thr377Met.
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- Ophthalmic Genetics, 1999, v. 20, n. 3, p. 205, doi. 10.1076/opge.20.3.205.2279
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Success of targeted sequencing in the search for genetic causes of Usher syndrome type 2.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 138
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Novel antisense therapy for USH2A patients.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 112
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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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Usher Syndrome: Treatment of hearing loss and tinnitus.
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- Journal of Hearing Science, 2017, v. 7, n. 2, p. 135
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Usher Syndrome and Color Vision.
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- Current Eye Research, 2018, v. 43, n. 10, p. 1295, doi. 10.1080/02713683.2018.1501804
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The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36431-1
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The Use of Visual Feedback During Signing: Evidence From Signers With Impaired Vision.
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- Journal of Deaf Studies & Deaf Education, 2009, v. 14, n. 1, p. 99, doi. 10.1093/deafed/enn020
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Syndromic Retinitis Pigmentosa: A 15-Patient Study.
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- Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
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Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.
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- Genes, 2023, v. 14, n. 3, p. 652, doi. 10.3390/genes14030652
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Towards a Cure for HARS Disease.
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- Genes, 2023, v. 14, n. 2, p. 254, doi. 10.3390/genes14020254
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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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Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD.
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- Genes, 2021, v. 12, n. 2, p. 151, doi. 10.3390/genes12020151
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Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
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- Genes, 2020, v. 11, n. 12, p. 1474, doi. 10.3390/genes11121474
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Hearing Impairment Overview in Africa: the Case of Cameroon.
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- Genes, 2020, v. 11, n. 2, p. 233, doi. 10.3390/genes11020233
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Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes.
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- Genes, 2019, v. 10, n. 12, p. 1047, doi. 10.3390/genes10121047
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GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon.
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- Genes, 2019, v. 10, n. 11, p. 844, doi. 10.3390/genes10110844
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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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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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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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Fine-scale genetic structure and rare variant frequencies.
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- PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0313133
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Ocular morbidity in hearing impaired schoolchildren.
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- Child: Care, Health & Development, 2011, v. 37, n. 3, p. 394, doi. 10.1111/j.1365-2214.2010.01137.x
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A clinical evaluation of ophthalmic assessment in children with sensori-neural deafness.
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- Child: Care, Health & Development, 2003, v. 29, n. 5, p. 377, doi. 10.1046/j.1365-2214.2003.00355.x
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Usher syndrome: increasing awareness in Scotland.
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- Child: Care, Health & Development, 1995, v. 21, n. 2, p. 111, doi. 10.1111/j.1365-2214.1995.tb00413.x
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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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A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies.
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- Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01255
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Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies.
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- Expert Review of Ophthalmology, 2015, v. 10, n. 3, p. 241, doi. 10.1586/17469899.2015.1033403
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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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PHARC syndrome: an overview.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03418-0
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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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Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome.
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- Journal of Laryngology & Otology, 2015, v. 129, n. 9, p. 919, doi. 10.1017/S0022215115001760
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Auditory and vestibular hair cell stereocilia: relationship between functionality and inner ear disease.
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- Journal of Laryngology & Otology, 2011, v. 125, n. 10, p. 991, doi. 10.1017/S0022215111001459
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Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 9993, doi. 10.3390/ijms25189993
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Pathogenic Variants in USH1G /SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17608, doi. 10.3390/ijms242417608
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