Disease: Deafness- autosomal dominant nonsyndromic sensorineural 3
- <em>DFNA5</em> (<em>GSDME</em>) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
- <em>Gjb3</em> Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran
- <em>NLRP3</em> mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
- A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment
- A family with nonsyndromic hearing impairment caused by intermarry
- A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
- A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus
- A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
- A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3
- A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
- A Missense Mutation in <em>POU4F3</em> Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family
- A novel <em>KCNQ4</em> gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A
- A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A
- A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred
- A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
- A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation
- A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
- Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family
- Advances in hereditary hearing loss caused by TMC1 mutations
- An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
- An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the <em>DIAPH1</em> Gene
- An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene
- Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
- Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
- Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene
- Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
- Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis
- Cochlear outer hair cells in a dominant-negative connexin26 mutant mouse preserve non-linear capacitance in spite of impaired distortion product otoacoustic emission
- Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation
- Confirmation of GRHL2 as the gene for the DFNA28 locus
- Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9
- Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9
- ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss
- Evaluation of deaf children in a large series in Turkey
- Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss
- Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family
- Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear
- Four Novel Variants in <em>POU4F3</em> Cause Autosomal Dominant Nonsyndromic Hearing Loss
- Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss
- Gene localization in a Chinese family with autosomal dominant non-syndromic deafness
- Genetics of congenital deafness
- Genotype and Phenotype Analyses of a Novel <em>WFS1</em> Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
- High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
- HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice
- Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
- Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing
- Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)
- Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan
- Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population
- Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice
- Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila
- Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
- Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9
- Missense Variant of Endoplasmic Reticulum Region of <em>WFS1</em> Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
- Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
- Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss
- Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
- Mutation in the Hair Cell Specific Gene <em>POU4F3</em> Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans
- Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans
- Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
- Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
- Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
- Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)
- Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
- Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
- Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway
- Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
- NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
- Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes
- Nonsyndromic Hearing Loss and Deafness, DFNA3
- Nonsyndromic Hearing Loss and Deafness, DFNA3 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree
- Phosphatidylinositol 4-kinase beta mutations cause nonsyndromic sensorineural deafness and inner ear malformation
- Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation
- Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
- Prevalence and clinical features of hearing loss caused by EYA4 variants
- Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans
- Sensorineural hearing loss and mild cardiac phenotype caused by an <em>EYA4</em> mutation
- Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation
- Single gene variants causing deafness in Asian Indians
- Study of a mutation in connexin 26 gene associated with congenital sensorineural deafness
- Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss
- The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B