• Publications
  • Influence
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.
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.
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
TLDR
This study is the first large systematic analysis indicating that the GJB2 genotype has a major impact on the degree of hearing impairment, and identifying mild genotypes.
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
TLDR
It is suggested that the NPS phenotype is broader than previously described and that NTG and hearing impairment are part of NPS, and no clear genotype–phenotype association was apparent for extrarenal manifestations.
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature
TLDR
Ophthalmological and fluorescent in situ hybridisation of chromosome 22 investigations should be performed in all patients, as soon as the diagnosis of PRS is established, because 33% of patients with Pierre Robin sequence plus had Stickler and velocardiofacial syndromes.
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
TLDR
It is hypothesized that the causative variant may change the expression levels of a GRHL2 isoform, and the majority of the associated SNPs reside in intron 1 of this locus.
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
TLDR
The high-level expression and stability of cochlin in the inner ear, even in the absence and severe atrophy of the fibrocytes that normally express COCH, are shown through these studies and further elucidate the pathobiologic events occurring in DFNA9 leading to hearing loss and vestibular dysfunction.
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
TLDR
The data validate previously observed genotype–phenotype correlations in DFNA8/12 and introduce new correlations, specifically, mutations in the N‐terminal region of α‐tectorin lead to mid‐frequency NSHL, a phenotype previously associated only with mutation in the ZP domain.
TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss
TLDR
A unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype is identified and its change is predicted to be damaging.
...
1
2
3
4
5
...