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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

Clinical genetics, 2009-03, Vol.75 (3), p.237-243

2009

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USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Clinical genetics, 2009-01, Vol.75 (1), p.86-91

2009

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Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Clinical genetics, 2017-02, Vol.91 (2), p.328-332

2017

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Genetic causes of moderate to severe hearing loss point to modifiers

Clinical genetics, 2017-04, Vol.91 (4), p.589-598

2017

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Unresolved questions regarding human hereditary deafness

Oral diseases, 2017-07, Vol.23 (5), p.551-558

2017

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Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

Nature cell biology, 2005-02, Vol.7 (2), p.148-156

2005

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Genetic insights into the morphogenesis of inner ear hair cells

Nature reviews. Genetics, 2004-07, Vol.5 (7), p.489-498

2004

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Myosin XVa Localizes to the Tips of Inner Ear Sensory Cell Stereocilia and Is Essential for Staircase Formation of the Hair Bundle

Proceedings of the National Academy of Sciences - PNAS, 2003-11, Vol.100 (24), p.13958-13963

2003

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HUMAN NONSYNDROMIC SENSORINEURAL DEAFNESS

Annual review of genomics and human genetics, 2003-01, Vol.4 (1), p.341-402

2003

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PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

Human molecular genetics, 2003-12, Vol.12 (24), p.3215-3223

2003

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DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

Clinical genetics, 2009-09, Vol.76 (3), p.270-275

2009

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Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

American journal of human genetics, 2001-07, Vol.69 (1), p.25-34

2001

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Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene

Human molecular genetics, 2004-09, Vol.13 (18), p.2143-2153

2004

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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

Human molecular genetics, 2003-08, Vol.12 (16), p.2049-2061

2003

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Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

Developmental biology, 2005-04, Vol.280 (2), p.295-306

2005

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Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

Cell, 2001-01, Vol.104 (1), p.165-172

2001

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Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

The New England journal of medicine, 1998-11, Vol.339 (21), p.1500-1505

1998

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Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

Nature genetics, 2002-03, Vol.30 (3), p.277-284

2002

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Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

American journal of human genetics, 2006-01, Vol.78 (1), p.137-143

2006

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Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

Nature genetics, 2002-03, Vol.30 (3), p.257-258

2002

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Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

American journal of human genetics, 2003-05, Vol.72 (5), p.1315-1322

2003

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CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

American journal of human genetics, 2002-08, Vol.71 (2), p.262-275

2002

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Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

Journal of medical genetics, 2004-08, Vol.41 (8), p.591-595

2004

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A mutation in PDS causes non-syndromic recessive deafness

Nature genetics, 1998-03, Vol.18 (3), p.215-217

1998

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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Genetic causes of moderate to severe hearing loss point to modifiers

Unresolved questions regarding human hereditary deafness

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

Genetic insights into the morphogenesis of inner ear hair cells

Myosin XVa Localizes to the Tips of Inner Ear Sensory Cell Stereocilia and Is Essential for Staircase Formation of the Hair Bundle

HUMAN NONSYNDROMIC SENSORINEURAL DEAFNESS

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

A mutation in PDS causes non-syndromic recessive deafness

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