Show
Sort by
-
Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
-
A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates
-
Familial aggregation of pure tone hearing thresholds in an aging European population
-
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
-
Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
-
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
-
- Journal Article
- A1
- open access
Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum
-
Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's
-
Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
-
- Journal Article
- A1
- open access
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
-
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
-
Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2
-
Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami
-
Evaluation of host genetic and viral factors as surrogate markers for HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian HTLV-1-infected patients
-
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations
-
Candidate Gene Association Study for Noise-induced Hearing Loss in Two Independent Noise-exposed Populations
-
GRM7 variants confer susceptibility to age-related hearing impairment
-
Influence of exogenic factors on age-related hearing impairment
-
Audiometric shape and presbycusis
-
Genetic Studies on Noise-Induced Hearing Loss: A Review
-
Characterization of the murine Dfna5 promoter and regulatory regions
-
Analysis of Gene Polymorphisms Associated with K+ Ion Circulation in the Inner Ear of Patients Susceptible and Resistant to Noise-induced Hearing Loss
-
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
-
Applications in Audiological Medicine
-
Human hereditary hearing impairment: mouse models can help to solve the puzzle
-
Strong Linkage Disequilibrium for the Frequent GJB2 35delG Mutation in the Greek Population
-
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
-
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients
-
- Journal Article
- A1
- open access
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
-
- Journal Article
- A1
- open access
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
-
Age-related Hearing Impairment: ensemble playing of environmental and genetic factors
-
The complexity of age-related hearing impairment: Contributing environmental and genetic factors
-
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations
-
A novel DFNA5 mutation does not cause hearing loss in an Iranian family
-
Prevalence of tinnitus and audiometric shape
-
New, easy and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation
-
Familial aggregation of tinnitus: a European multicentre study
-
The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss
-
Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
-
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome
-
KCNQ4: A gene for age-related hearing impairment?
-
The contribution of genes involved in potassium-recyclingin the inner ear to noise-induced hearing loss
-
Molecular characterisation of non-absorptive and absorptive enterocytes in human small intestine
-
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
-
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells
-
GJB2 (Connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
-
The influence of genetic variation in oxidative stress genes on human noise susceptibility
-
DFNA5
-
DFNA5: hearing impairment exon instead of hearing impairment gene?
-
A novel Z-score-based method to analyze candidate genes for Age-Related Hearing Impairment
-
A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation
-
Autosomal dominant non-syndromic hearing impairment: An overview
-
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
-
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
-
Nonsyndromic hearing loss
-
A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment
-
Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects
-
Clinical features of DFNA5
-
Is DFNA5 a susceptibility gene for age-related hearing impairment?
-
Further delineation of the DFNA5 phenotype: Results of speech recognition tests
-
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
-
Genes in the ear: what have we learned over the last years?
-
- Journal Article
- A1
- open access
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
DFNA 2, 5, 8, 12
-
Identification of a new connexin gene GJA11 (Cx59) using degenerate PCR primers
-
Erfelijk gehoorverlies: een overzicht van de huidige stand van zaken
-
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA(Ser(UCN)) gene
-
Autosomal recessive nonsyndromic hearing loss
-
Autosomal dominant nonsyndromic hearing impairment
-
Homozygosity mapping applied to hereditary hearing impairment - localizing recessive deafness genes.
-
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
-
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
-
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15
-
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24
-
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea
-
Gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6
-
LOCALIZATION OF A GENE FOR NON-SYNDROMIC HEARING-LOSS (DFNA5) TO CHROMOSOME 7P15
-
IN-VITRO STIMULATION OF PERIPHERAL-BLOOD MONONUCLEAR-CELLS (PBMC) FROM HIV- AND HIV+ CHANCROID PATIENTS BY HAEMOPHILUS-DUCREYI ANTIGENS
-
CALMODULIN-BINDING PROTEINS IN GRANULE AND PLASMA-MEMBRANES FROM BOVINE CHROMAFFIN CELLS
-
ENZYME-LINKED IMMUNOSORBENT-ASSAY FOR CHROMOGRANIN-A