Lista de obras -

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment

artículo científico publicado en 2004

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

artículo científico publicado en 2016

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

artículo científico publicado en 2006

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

artículo científico publicado en 2004

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

artículo científico publicado en 2009

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

artículo científico publicado en 2008

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

artículo científico publicado en 2005

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family ⬇️

artículo científico publicado el 1 de abril de 2011

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

artículo científico publicado en 2006

Cochleovestibular and ocular features in a Dutch DFNA11 family

artículo científico publicado en 2006

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

artículo científico publicado en 2006

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

artículo científico publicado en 2004

Familial aggregation of pure tone hearing thresholds in an aging European population

artículo científico publicado en 2013

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

artículo científico publicado en 2011

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

artículo científico publicado en 2005

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

artículo científico publicado en 2010

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

artículo científico publicado en 2004

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

scientific article published on 01 August 2006

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations

artículo científico publicado en 2004

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

artículo científico publicado en 2008

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

artículo científico publicado en 2009

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

artículo científico publicado en 2008

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

artículo científico publicado en 2002

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

artículo científico publicado en 2011

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study

artículo científico publicado en 2008

Phenotype description of a novel DFNA9/COCH mutation, I109T.

artículo científico publicado en 2007

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

artículo científico publicado en 2005

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2 ⬇️

artículo científico publicado el 1 de marzo de 2011

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

artículo científico publicado en 2003

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️

artículo científico publicado el 26 de junio de 2010

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

artículo científico publicado en 2007

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

artículo científico publicado en 2007

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

artículo científico publicado en 2004

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

artículo científico publicado en 2004

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

artículo científico publicado en 2007

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

artículo científico publicado en 2005

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

artículo científico publicado en 2009

Lista de obras de

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment

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

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family ⬇️

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

Cochleovestibular and ocular features in a Dutch DFNA11 family

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Familial aggregation of pure tone hearing thresholds in an aging European population

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2 ⬇️

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in &lt;i&gt;TMC1&lt;/i&gt; ⬇️

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️