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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

Journal of medical genetics, 2003-04, Vol.40 (4), p.242-248

2003

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Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan

Clinical genetics, 2014-05, Vol.85 (5), p.487-491

2014

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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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Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

Clinical genetics, 2010-09, Vol.78 (3), p.247-256

2010

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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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The molecular genetics of Usher syndrome

Clinical genetics, 2003-06, Vol.63 (6), p.431-444

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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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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CoMFA-Based Prediction of Agonist Affinities at Recombinant Wild Type versus Serine to Alanine Point Mutated D2 Dopamine Receptors

Journal of medicinal chemistry, 2000-08, Vol.43 (16), p.3005-3019

2000

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The International Safety Framework for nuclear power source applications in outer space—Useful and substantial guidance

Acta astronautica, 2015-06, Vol.111, p.89-101

2015

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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Human genetics, 2001-11, Vol.109 (5), p.535-541

2001

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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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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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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 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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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

Journal of medical genetics, 2001-06, Vol.38 (6), p.396-400

2001

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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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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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A mutation in PDS causes non-syndromic recessive deafness

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

1998

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Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

Human genetics, 2002-06, Vol.110 (6), p.527-531

2002

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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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CoMFA-Based Prediction of Agonist Affinities at Recombinant D1 vs D2 Dopamine Receptors

Journal of medicinal chemistry, 1998-10, Vol.41 (22), p.4385-4399

1998

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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

Human genetics, 1998-05, Vol.102 (5), p.499-506

1998

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

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

The molecular genetics of Usher syndrome

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

CoMFA-Based Prediction of Agonist Affinities at Recombinant Wild Type versus Serine to Alanine Point Mutated D2 Dopamine Receptors

The International Safety Framework for nuclear power source applications in outer space—Useful and substantial guidance

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

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

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

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

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

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

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

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

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

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

A mutation in PDS causes non-syndromic recessive deafness

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

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

CoMFA-Based Prediction of Agonist Affinities at Recombinant D1 vs D2 Dopamine Receptors

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

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