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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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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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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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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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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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Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Science (American Association for the Advancement of Science), 1998-05, Vol.280 (5368), p.1447-1451

1998

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Correction of Deafness in shaker-2 Mice by an Unconventional Myosin in a BAC Transgene

Science (American Association for the Advancement of Science), 1998-05, Vol.280 (5368), p.1444-1447

1998

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Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan

Clinical genetics, 2007-12, Vol.72 (6), p.546-550

2007

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A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1

Clinical genetics, 2007-02, Vol.71 (2), p.148-152

2007

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OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

American journal of human genetics, 2000-09, Vol.67 (3), p.591-600

2000

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Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

Human molecular genetics, 2002-11, Vol.11 (23), p.2877-2885

2002

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DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3

Clinical genetics, 2012-05, Vol.81 (5), p.498-500

2012

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Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

American journal of human genetics, 2002-09, Vol.71 (3), p.632-636

2002

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Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

Science (American Association for the Advancement of Science), 1998-03, Vol.279 (5358), p.1950-1954

1998

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Dominant modifier DFNM1 suppresses recessive deafness DFNB26

Nature genetics, 2000-12, Vol.26 (4), p.431-434

2000

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The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

Human molecular genetics, 2000-07, Vol.9 (12), p.1729-1738

2000

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Distinctive audiometric profile associated with DFNB21 alleles of TECTA

Journal of medical genetics, 2003-05, Vol.40 (5), p.360-363

2003

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A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1

Clinical genetics, 2008-04, Vol.73 (4), p.367-372

2008

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Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2

Genomics (San Diego, Calif.), 1999-11, Vol.61 (3), p.243-258

1999

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A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1

Human genetics, 2005-01, Vol.116 (1-2), p.17-22

2005

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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

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

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

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

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

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Correction of Deafness in shaker-2 Mice by an Unconventional Myosin in a BAC Transgene

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3

Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1

Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1

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