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Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference

Clinical otolaryngology, 2016-10, Vol.41 (5), p.487-497

2016

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Ear and hearing problems in relation to karyotype in children with Turner syndrome

Hearing research, 2011-05, Vol.275 (1), p.81-88

2011

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Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family

Hearing research, 2011-12, Vol.282 (1), p.167-177

2011

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Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Hearing research, 2011-12, Vol.282 (1), p.243-251

2011

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Usefulness of additional measurements of the median nerve with ultrasonography

Neurological sciences, 2010-12, Vol.31 (6), p.721-725

2010

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High Prevalence of Symptoms of Menière's Disease in three Families With a Mutation in the COCH Gene

Human molecular genetics, 1999-08, Vol.8 (8), p.1425-1429

1999

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness

Journal of medical genetics, 2004-03, Vol.41 (3), p.147-154

2004

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Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis

Hearing research, 2013-05, Vol.299, p.88-98

2013

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Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

Hearing research, 2012-09, Vol.291 (1-2), p.15-23

2012

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A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

Journal of medical genetics, 2003-12, Vol.40 (12), p.879-884

2003

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Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome

Audiology & neurotology, 2014-01, Vol.19 (2), p.106-114

2014

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A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44

Clinical genetics, 2011-05, Vol.79 (5), p.495-497

2011

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Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome

Otology & neurotology, 2001-09, Vol.22 (5), p.637-643

2001

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Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1–2q23.3

Hearing research, 2013-06, Vol.300, p.10-17

2013

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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Hearing research, 2016-09, Vol.339, p.60-68

2016

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Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA : Some Evidence for Protection of the Inner Ear

Audiology & neurotology, 2009, Vol.14 (3), p.153-162

2009

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Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA

Audiology & neurotology, 2009-03, Vol.14 (3), p.153-162

2009

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Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

Audiology & neurotology, 2005-03, Vol.10 (2), p.79-89

2005

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A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region

European archives of oto-rhino-laryngology, 2000, Vol.257 (2), p.62-67

2000

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Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations

Otology & neurotology, 2005-05, Vol.26 (3), p.405-414

2005

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The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

International journal of pediatric otorhinolaryngology, 2001-07, Vol.59 (3), p.163-172

2001

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Non-Syndromal Autosomal Dominant Hearing Impairment: Ongoing Phenotypical Characterization of Genotypes

British Journal of Audiology, 1999-10, Vol.33 (5), p.335-348

1999

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Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9

The Laryngoscope, 1999-09, Vol.109 (9), p.1525-1530

1999

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Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred’s syndrome

International journal of pediatric otorhinolaryngology, 1998-10, Vol.45 (2), p.113-123

1998

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Vestibular Function in Cochlear Implant Patients

Acta oto-laryngologica, 1993, Vol.113 (3), p.263-265

1993

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Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference

Ear and hearing problems in relation to karyotype in children with Turner syndrome

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Usefulness of additional measurements of the median nerve with ultrasonography

High Prevalence of Symptoms of Menière's Disease in three Families With a Mutation in the COCH Gene

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis

Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44

Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome

Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1–2q23.3

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA : Some Evidence for Protection of the Inner Ear

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA

Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region

Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

Non-Syndromal Autosomal Dominant Hearing Impairment: Ongoing Phenotypical Characterization of Genotypes

Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9

Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred’s syndrome

Vestibular Function in Cochlear Implant Patients

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