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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
TLDR
This ability to analyze most - if not all - deafness genes, as opposed to one or a few genes currently, will greatly improve DNA diagnostics, provide epidemiological data on gene-based mutation frequencies, and reveal novel genotype-phenotype correlations. Expand
2015 ESC Guidelines for the diagnosis and management of pericardial diseases
TLDR
This document describes the development and use of various types of antibody to treat acute myocardial infarction and the role that these antibodies play in the development of encephalopathy. Expand
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
TLDR
It is shown that protocadherins are essential for maintenance of normal retinal and cochlear function and are found in the linkage interval defined by the USH1F locus. Expand
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
TLDR
The high frequency of carriers of mutations in GJB2 predicts a prevalence of 1 deaf person among 1765 people, which may account for the majority of cases of nonsyndromic recessive deafness in the Ashkenazi Jewish population. Expand
GJB2 mutations and degree of hearing loss: a multicenter study.
TLDR
The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes. Expand
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
TLDR
Although EYA proteins interact with members of the SIX and DACH protein families in a conserved network that regulates early embryonic development, this finding shows that EYA4 is also important post-developmentally for continued function of the mature organ of Corti. Expand
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
TLDR
The results suggest that a healthy lifestyle can protect against age-related hearing impairment and smoking significantly increased high-frequency hearing loss, and the effect was dose-dependent. Expand
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
TLDR
The finding of a large number of affected subjects with only one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 deafness, which has become the standard of care for the diagnosis of patients with non-syndromic hearing impairment of unknown cause. Expand
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
TLDR
This work has performed further studies of these knockout mice including magnetic resonance imaging of the brain, neuropathological analysis and behavioral testing, and found the ventricular system was shown to be abnormal with dilatation of the lateral ventricles and the 4th ventricle, and an altered shape of the Sylvius aqueduct. Expand
A dominant-negative GFI1B mutation in the gray platelet syndrome.
TLDR
The studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development. Expand
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