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Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

Journal of human genetics, 2011-01, Vol.56 (1), p.64-70

2011

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Outcomes of cochlear implantation in 75 patients with auditory neuropathy

Frontiers in neuroscience, 2023-11, Vol.17, p.1281884-1281884

2023

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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Journal of translational medicine, 2009-09, Vol.7 (1), p.79-79, Article 79

2009

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Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China

PloS one, 2015-08, Vol.10 (8), p.e0135088-e0135088

2015

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Treatment of venous pulsatile tinnitus by compression reconstruction of sigmoid sinus

Acta oto-laryngologica, 2021-03, Vol.141 (3), p.242-249

2021

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Summary and consensus in 7th International Conference on acoustic neuroma:An update for the management of sporadic acoustic neuromas

World Journal of Otorhinolaryngology-Head and Neck Surgery, 2016-12, Vol.2 (4), p.234-239

2016

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Surgical management and the prognosis of iatrogenic facial nerve injury in middle ear surgery: a 20-year experience

Head & face medicine, 2023-07, Vol.19 (1), p.31-31, Article 31

2023

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Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches

Journal of human genetics, 2014-11, Vol.59 (11), p.599-607

2014

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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

Cell research, 2014-11, Vol.24 (11), p.1370-1373

2014

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Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China

Journal of translational medicine, 2013-12, Vol.11 (1), p.312-312, Article 312

2013

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Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family

American journal of human genetics, 2004-01, Vol.74 (1), p.139-152

2004

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KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects

PloS one, 2014-11, Vol.9 (11), p.e108134-e108134

2014

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Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

American journal of human genetics, 2010, Vol.86 (1), p.65-71

2010

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GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Journal of translational medicine, 2009-04, Vol.7 (26), p.26-26, Article 26

2009

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Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Journal of translational medicine, 2011-09, Vol.9 (1), p.167-167, Article 167

2011

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Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment

PloS one, 2012-02, Vol.7 (2), p.e30720-e30720

2012

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Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64

American journal of human genetics, 2011-07, Vol.89 (1), p.56-66

2011

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Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3)

PloS one, 2013-09, Vol.8 (9), p.e73245-e73245

2013

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SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

Genetics in medicine, 2008-08, Vol.10 (8), p.586-592

2008

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Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment

PloS one, 2013-07, Vol.8 (7), p.e70134-e70134

2013

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Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2

Journal of translational medicine, 2010-12, Vol.8 (1), p.127-127, Article 127

2010

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The prevalence of the 235delC GJB2 mutation in a Chinese deaf population

Genetics in medicine, 2007-05, Vol.9 (5), p.283-289

2007

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SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

Journal of translational medicine, 2012-05, Vol.10 (1), p.82-82, Article 82

2012

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Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes

International journal of pediatric otorhinolaryngology, 2013-03, Vol.77 (3), p.379-383

2013

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Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of translational medicine, 2008-11, Vol.6 (1), p.74-74, Article 74

2008

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Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

Outcomes of cochlear implantation in 75 patients with auditory neuropathy

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China

Treatment of venous pulsatile tinnitus by compression reconstruction of sigmoid sinus

Summary and consensus in 7th International Conference on acoustic neuroma:An update for the management of sporadic acoustic neuromas

Surgical management and the prognosis of iatrogenic facial nerve injury in middle ear surgery: a 20-year experience

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China

Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment

Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64

Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3)

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2

The prevalence of the 235delC GJB2 mutation in a Chinese deaf population

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

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