• Publications
  • Influence
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
A multicenter study was set up to elucidate the environmental and medical risk factors contributing to age-related hearing impairment (ARHI). Nine subsamples, collected by nine audiological centersExpand
  • 212
  • 18
  • PDF
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available asExpand
  • 195
  • 12
  • PDF
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. TheExpand
  • 123
  • 9
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature
Abstract We performed a retrospective study of all children with Pierre Robin sequence (PRS), admitted to our hospital from 1981–1998 in order to evaluate diagnosis, treatment and prognosis. PatientsExpand
  • 138
  • 8
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene, causing the adult-onset, progressive sensorineural hearing loss andExpand
  • 96
  • 7
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic progressive sensorineural hearing loss associated with vestibular dysfunction.Expand
  • 145
  • 6
TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss
Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated.Expand
  • 74
  • 6
Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families byExpand
  • 48
  • 5
  • PDF
A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurredExpand
  • 45
  • 5
Usher Syndrome Type III Can Mimic other Types of Usher Syndrome
Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individualExpand
  • 34
  • 5
...
1
2
3
4
5
...