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Journal Article
Acta Oto-Laryngologica, ISSN 0001-6489, 06/2019, Volume 139, Issue 6, pp. 479 - 486
Background: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction.... 
USH1 | Klinefelter syndrome | MYO7A | USH2A | Usher syndrome | USH2 | OTORHINOLARYNGOLOGY | ISOFORM
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 08/2007, Volume 28, Issue 8, pp. 781 - 789
The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2). Two protein isoforms have been identified: a short isoform of... 
usherin | PROTEIN | CRYSTAL-STRUCTURE | STABILITY | RECESSIVE RETINITIS-PIGMENTOSA | IDENTIFICATION | USH2A | USH2A GENE | MODELS | SEQUENCE | GENETICS & HEREDITY | MUTATIONS | BINDING | usher syndrome
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 11/2018, Volume 39, Issue 6, pp. 706 - 713
Background: Usher syndrome (USH) is heterogeneous in nature and requires genetic test for diagnosis and management. Mutations in USH associated genes are... 
gene therapy | MYO7A | Russian cohort | USH2A | Usher syndrome | HETEROGENEITY | USH2A GENE | MOLECULAR DIAGNOSIS | GENETICS & HEREDITY | OPHTHALMOLOGY | IDENTIFICATION | MUTATION SPECTRUM | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 15681 - 8
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis... 
GENE | CYSTOID MACULAR EDEMA | MOLECULAR DIAGNOSIS | 2299DELG | MULTIDISCIPLINARY SCIENCES | MUTATIONS | PREVALENCE | IDENTIFICATION | SYNDROME TYPE IIA | RETINITIS-PIGMENTOSA | USH2A | Deafness | USH2A protein | Missense mutation | Clonal deletion | Visual impairment | Sensory integration | Mutation | Gene deletion | Patients | DNA sequencing | Hearing loss
Journal Article
Gene, ISSN 0378-1119, 06/2015, Volume 563, Issue 2, pp. 215 - 218
Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP).... 
Whole exome sequencing | USH2A | Usher syndrome | SPANISH PATIENTS | USH2A MUTATIONS | PROTEIN | GENE | GENETICS & HEREDITY | IDENTIFICATION | RETINITIS-PIGMENTOSA | Hearing Loss - genetics | Usher Syndromes - genetics | Humans | Retinitis Pigmentosa - genetics | Heterozygote | Male | Mutation | Genome-Wide Association Study - methods | Child | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1730 - 1738
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 08/2015, Volume 32, Issue 4, pp. 468 - 471
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
A systematic literature search of the PubMed database (1 March 2016) using keywords 'Usher syndrome' AND 'mutation' AND 'Czech Republic' (or Belarus, Bulgaria,... 
Mutation | Inspection | USH2A protein | Patients | Deoxyribonucleic acid--DNA
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 2016, Volume 5, Issue 10, pp. e381 - e381
Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing... 
genetic therapy | USH2A | splice redirection | Usher syndrome | antisense oligonucleotides
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2019, Volume 36, Issue 2, pp. 147 - 150
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 5628 - 11
Retinitis pigmentosa (RP) is a common phenotype in multiple inherited retinal dystrophies (IRD). Disease gene identification can assist the clinical diagnosis... 
LONG ISOFORM | HEARING IMPAIRMENT | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | SYNDROME TYPE-II | DEAFNESS | PREVALENCE | USH2A protein | Phenotypes | Missense mutation | Retinitis pigmentosa | Retina | Retinitis | Diagnosis | Mutation | Patients
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 99 - 104
Journal Article