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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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Antioxidant enzymes, presbycusis, and ethnic variability

Otolaryngology-head and neck surgery, 2010-08, Vol.143 (2), p.263-268

2010

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Audioprofiles and antioxidant enzyme genotypes in presbycusis

The Laryngoscope, 2012-11, Vol.122 (11), p.2539-2542

2012

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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

Journal of human genetics, 2009-12, Vol.54 (12), p.732-738

2009

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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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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Molecular cytogenetics, 2018-08, Vol.11 (1), p.43-6, Article 43

2018

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Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

The Laryngoscope, 2011-04, Vol.121 (4), p.811-814

2011

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Audiologic and genetic features of the A3243G mtDNA mutation

Genetic testing and molecular biomarkers, 2013-05, Vol.17 (5), p.383

2013

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Proxy activation of protein ErbB2 by heterologous ligands implies a heterotetrameric mode of receptor tyrosine kinase interaction

Biochemical journal, 1998-04, Vol.331 ( Pt 1) (1), p.113-119

1998

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the genetic deafness in chinese population

Journal of otology (Beijing), 2006-06, Vol.1 (1), p.1-10

2006

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Absence of GJB2 gene mutations, the GJB6 deletion ( GJB6 -D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

International journal of pediatric otorhinolaryngology, 2011-05, Vol.75 (5), p.611-617

2011

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Genotype-Phenotype Correlation of MELAS over 3 Generations

Otolaryngology-head and neck surgery, 2010-08, Vol.143 (2), p.P235-P235

2010

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Reduced ability of transforming growth factor-alpha to induce EGF receptor heterodimerization and downregulation suggests a mechanism of oncogenic synergy with ErbB2

Oncogene, 1997-10, Vol.15 (18), p.2219-2223

1997

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The duration of phorbol-inducible ErbB2 tyrosine dephosphorylation parallels that of receptor endocytosis rather than threonine-686 phosphorylation : Implications for the physiological role of protein kinase C in growth factor receptor signalling

Carcinogenesis (New York), 1998-11, Vol.19 (11), p.2013-2019

1998

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Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

Otolaryngology-head and neck surgery, 2012-11, Vol.147 (5), p.932-936

2012

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Analysis of miR-376 RNA cluster members in the mouse inner ear

International journal of experimental pathology, 2012-12, Vol.93 (6), p.450-457

2012

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Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct

Otolaryngology-head and neck surgery, 2009-10, Vol.141 (4), p.502-508

2009

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Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

Otolaryngology-head and neck surgery, 2011-08, Vol.145 (2_suppl), p.P93-P93

2011

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Analysis of mi R ‐376 RNA cluster members in the mouse inner ear

International journal of experimental pathology, 2012-12, Vol.93 (6), p.450-457

2012

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Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation

Mutation research, 2016-08, Vol.790, p.1-7

2016

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Mutations in the WFS1 gene and low frequency hearing loss

Otolaryngology-head and neck surgery, 2009-09, Vol.141 (3), p.P86-P86

2009

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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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Mitochondrial DNA Mutation Screening in South Florida

The Laryngoscope, 2010-10, Vol.120 (S3), p.S92-S92

2010

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Human Cancer Cells Exhibit Protein Kinase C-dependent c-erbB-2 Transmodulation That Correlates with Phosphatase Sensitivity and Kinase Activity

The Journal of biological chemistry, 1996-09, Vol.271 (36), p.21786-21792

1996

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Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Molecular cytogenetics, 2013-09, Vol.6 (1), p.38-38

2013

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

Antioxidant enzymes, presbycusis, and ethnic variability

Audioprofiles and antioxidant enzyme genotypes in presbycusis

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

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

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

Audiologic and genetic features of the A3243G mtDNA mutation

Proxy activation of protein ErbB2 by heterologous ligands implies a heterotetrameric mode of receptor tyrosine kinase interaction

the genetic deafness in chinese population

Absence of GJB2 gene mutations, the GJB6 deletion ( GJB6 -D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

Genotype-Phenotype Correlation of MELAS over 3 Generations

Reduced ability of transforming growth factor-alpha to induce EGF receptor heterodimerization and downregulation suggests a mechanism of oncogenic synergy with ErbB2

The duration of phorbol-inducible ErbB2 tyrosine dephosphorylation parallels that of receptor endocytosis rather than threonine-686 phosphorylation : Implications for the physiological role of protein kinase C in growth factor receptor signalling

Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

Analysis of miR-376 RNA cluster members in the mouse inner ear

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct

Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

Analysis of mi R ‐376 RNA cluster members in the mouse inner ear

Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation

Mutations in the WFS1 gene and low frequency hearing loss

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

Mitochondrial DNA Mutation Screening in South Florida

Human Cancer Cells Exhibit Protein Kinase C-dependent c-erbB-2 Transmodulation That Correlates with Phosphatase Sensitivity and Kinase Activity

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

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