相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing
Tatsuya Katsuno et al.
JCI INSIGHT (2019)
Emerging roles of TRIO and F-actin-binding protein in human diseases
Sungjin Park et al.
CELL COMMUNICATION AND SIGNALING (2018)
Genetic causes of moderate to severe hearing loss point to modifiers
S. Naz et al.
CLINICAL GENETICS (2017)
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment
Mieke Wesdorp et al.
HEARING RESEARCH (2017)
Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings
Zachary Farhood et al.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY (2017)
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
Agnieszka Pollak et al.
BMC MEDICAL GENETICS (2017)
Auditory Speech Perception Development in Relation to Patient's Age with Cochlear Implant
Grace Kelly Seixas Ciscare et al.
INTERNATIONAL ARCHIVES OF OTORHINOLARYNGOLOGY (2017)
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease
Eva J. J. Verver et al.
EAR AND HEARING (2016)
Qualities of Single Electrode Stimulation as a Function of Rate and Place of Stimulation with a Cochlear Implant
David M. Landsberger et al.
EAR AND HEARING (2016)
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Denise Yan et al.
HUMAN GENETICS (2016)
Assessment of Cochlear Trauma During Cochlear Implantation Using Electrocochleography and Cone Beam Computed Tomography
Adrian Dalbert et al.
OTOLOGY & NEUROTOLOGY (2016)
A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology
Maiko Miyagawa et al.
OTOLOGY & NEUROTOLOGY (2016)
The elusive mechanotransduction machinery of hair cells
Bo Zhao et al.
CURRENT OPINION IN NEUROBIOLOGY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
X. Gu et al.
CLINICAL GENETICS (2015)
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation
Alexander E. Volk et al.
AUDIOLOGY AND NEURO-OTOLOGY (2013)
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
Zied Riahi et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2013)
Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS
Maiko Miyagawa et al.
PLOS ONE (2013)
Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis
Robert W. Eppsteiner et al.
HEARING RESEARCH (2012)
Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
Oscar Diaz-Horta et al.
PLOS ONE (2012)
Genetic Characteristics in Children with Cochlear Implants and the Corresponding Auditory Performance
Chen-Chi Wu et al.
LARYNGOSCOPE (2011)
Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing
Shin-ichiro Kitajiri et al.
CELL (2010)
Spoken Language Development in Children Following Cochlear Implantation
John K. Niparko et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2010)
Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) Mutations in a Population of Adult Cochlear Implant Candidates
Jordan B. Hochman et al.
OTOLOGY & NEUROTOLOGY (2010)
Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children
Chen-Chi Wu et al.
ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2008)
The dimensions and composition of stereociliary rootlets in mammalian cochlear hair cells: Comparison between high- and low-frequency cells and evidence for a connection to the lateral membrane
David N. Furness et al.
JOURNAL OF NEUROSCIENCE (2008)
Prospective mutation screening of three common deafness genes in a large Taiwanese cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities
Chen-Chi Wu et al.
AUDIOLOGY AND NEURO-OTOLOGY (2008)
Autosomal recessive postlingual hearing loss (DFNB8):: compound heterozygosity for two novel TMPRSS3 mutations in German siblings
Miriam Elbracht et al.
JOURNAL OF MEDICAL GENETICS (2007)
Current concepts: Newborn hearing screening - A silent revolution
CC Morton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Connexin-associated deafness and speech perception outcome of cochlear implantation
R TaitelbaumSwead et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2006)
AceView: a comprehensive cDNA-supported gene and transcripts annotation
Danielle Thierry-Mieg et al.
GENOME BIOLOGY (2006)
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss
H Shahin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
S Riazuddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Effects of central nervous system residua on cochlear implant results in children deafened by meningitis
HW Francis et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2004)
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
M Guipponi et al.
HUMAN MOLECULAR GENETICS (2002)
Epidemiological studies on hearing impairment with preference to genetic factors in Sichuan, China
XZ Liu et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2001)
分享论文
