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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1,Expand
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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
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor β superfamily of signalling proteins (TGFβ-FMs), such as BMP4 (ref. 1). ByExpand
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Bone-Anchored Hearing Aids in Unilateral Inner Ear Deafness: An Evaluation of Audiometric and Patient Outcome Measurements
Objective: To evaluate the benefit of a bone-anchored hearing aid contralateral routing of sound hearing aid (BAHA CROS hearing aid) in 29 patients with unilateral inner ear deafness. Study Design:Expand
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Bone-anchored Hearing Aids in Unilateral Inner Ear Deafness
In nine patients with unilateral deafness and normal hearing in the contralateral ear, measurements of sound localization and speech perception were obtained before intervention, with a conventionalExpand
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Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch) with autosomal dominant, non-syndromicExpand
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Mutations in different components of FGF signaling in LADD syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in theExpand
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Pilot study on the effectiveness of the conventional CROS, the transcranial CROS and the BAHA transcranial CROS in adults with unilateral inner ear deafness
The objective of the present pilot study is to evaluate the effectiveness of three conventional contralateral routing of sound (CROS) hearing aids in adults with unilateral inner ear deafness. TheExpand
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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
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Bone-Anchored Hearing Aid in Unilateral Inner Ear Deafness: A Study of 20 Patients
Objective: To evaluate the benefit of a bone-anchored hearing aid (BAHA) contralateral routing of sound (CROS) in 20 patients with unilateral inner ear deafness. Subjects: 21 patients were recruited;Expand
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