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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
Hearing Research, ISSN 0378-5955, 09/2019, Volume 381, pp. 107769 - 107769
Hearing loss (HL), one of the most common congenital disorder, affects about one child in 1000. Among the genetic forms of HL, ∼30% of the cases are associated... 
Syndromic hearing loss | Targeted re-sequencing | Molecular diagnosis | Usher syndrome | Index Medicus
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 04/2019, Volume 60, Issue 5, pp. 1547 - 1555
PURPOSE. To evaluate the disease progression in patients with clinical and genetic diagnoses of choroideremia during a long-term follow-up and to investigate... 
GENE | choroideremia | USHER-SYNDROME | genotype-phenotype correlation | visual acuity | STARGARDT DISEASE | OPHTHALMOLOGY | visual field | longitudinal study | PROGRESSION | FEATURES
Journal Article
Molecular biology of the cell, ISSN 1059-1524, 01/2019, Volume 30, Issue 1, pp. 108 - 118
Transporting epithelial cells optimize their morphology for solute uptake by building an apical specialization: a dense array of microvilli that serves to... 
HARMONIN | LOCALIZATION | COMPLEX | SENSORY HAIR-CELLS | STEREOCILIA | TIP-LINK | WALTZER | MYOSIN VIIA | USHER-SYNDROME PROTEINS | CADHERIN-23 | CELL BIOLOGY | Index Medicus
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
Purpose: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify... 
MUTATION ANALYSIS | IDENTIFY | USHER-SYNDROME | FAMILIES | OPHTHALMOLOGY | DOLICHOL | PREVALENCE | KINASE MAK | IDENTIFICATION | CILIARY LENGTH | DEGENERATION | Genetic research | Retinitis pigmentosa
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
Journal of Neuroscience, ISSN 0270-6474, 10/2008, Volume 28, Issue 44, pp. 11269 - 11276
Journal Article
BIOPHYSICAL JOURNAL, ISSN 0006-3495, 12/2018, Volume 115, Issue 12, pp. 2368 - 2385
The cadherin superfamily of proteins is defined by the presence of extracellular cadherin (EC) "repeats" that engage in protein-protein interactions to mediate... 
HAIR-CELLS | MOLECULAR-DYNAMICS | BIOLOGICAL MACROMOLECULES | PROTEIN | BIOPHYSICS | STRUCTURAL BASIS | USHER-SYNDROME | RESOLUTION STRUCTURE | SEQUENCE ALIGNMENT | X-RAY-SCATTERING | CELL-ADHESION
Journal Article
by He, XG and Peng, Q and Li, SP and Zhu, PY and Wu, CQ and Rao, CB and Lin, JQ and Lu, XM
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, ISSN 0165-5876, 08/2017, Volume 99, pp. 40 - 43
Objectives: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. Methods: The targeted... 
HEARING-LOSS | LOCALIZATION | Usher syndrome | OTORHINOLARYNGOLOGY | PEDIATRICS | DEAFNESS | MYO7A | MYOSIN VIIA GENE | Hearing loss | Novel mutation
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 07/2018, Volume 136, Issue 7, pp. 761 - 769
IMPORTANCE Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. OBJECTIVE To report olfactory function and the... 
NUCLEOTIDE-GATED CHANNEL | MOLECULAR DIAGNOSIS | USHER-SYNDROME | ODOR DISCRIMINATION | OPHTHALMOLOGY | MUTATIONS | IDENTIFICATION | ACID-RICH PROTEINS | BETA-SUBUNIT | LARGE COHORT | PAKISTANI FAMILIES | Online First | Original Investigation | Research
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 7/2010, Volume 190, Issue 1, pp. 9 - 20
Journal Article