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List of works by Patrick L M Huygen

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

scientific article published in March 2004

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

scientific article published on 15 June 2016

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

scientific article

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

scientific article

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.

scientific article published in May 2009

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

scientific article published in March 2008

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

scientific article published in September 2005

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family

scientific article published in April 2011

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

scientific article published on 06 December 2006

Cochleovestibular and ocular features in a Dutch DFNA11 family

scientific article published in April 2006

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

scientific article published on 15 February 2006

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

scientific article published in April 2004

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

scientific article published on July 2013

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

scientific article published on 23 July 2011

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

scientific article

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

scientific article

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

scientific article published on 2 June 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

scientific article published in July 2004

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

scientific article published on 25 June 2008

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

scientific article published in April 2009

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

scientific article published on April 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in May 2007

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

scientific article

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

scientific article published in March 2011

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

scientific article published in April 2003

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

scientific article

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

scientific article published in October 2007

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

scientific article published on 6 October 2007

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

scientific article published in August 2004

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

scientific article published in September 2004

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

scientific article published on 19 March 2007

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

scientific article

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

scientific article published on 15 April 2009

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