• A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
• A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate
• A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia
• A genetic aetiological survey of severe childhood deafness in the United Arab Emirates
• A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family
• A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome
• A PCR-RFLP test for simultaneous detection of two single-nucleotide insertions in the Connexin-26 gene promoter
• A rat homolog of the mouse deafness mutant jerker (je)
• Advances in hereditary hearing loss caused by TMC1 mutations
• Alport syndrome. Molecular genetic aspects
• Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report
• Assessing the clinical utility of volumetric HRCT in pediatric enlarged vestibular aqueduct related hearing loss
• Audiometric findings in children with unilateral enlarged vestibular aqueduct
• Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients
• 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 recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant
• Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades
• Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity
• Circling mouse: possible animal model for deafness
• Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
• Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1
• Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss
• Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness
• Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations
• Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
• Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation
• Evaluation of deaf children in a large series in Turkey
• Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary
• Genetic and family studies in Friedreich's ataxia
• Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis
• Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
• Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
• High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
• High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss
• Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations
• Inner ear histopathology in "nervous Pointer dogs" with severe hearing loss
• Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers
• Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
• Lafora disease in miniature Wirehaired Dachshunds
• Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity
• Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study
• Longitudinal hearing loss in Wolfram syndrome
• Male mice with deleted Wolframin (Wfs1) gene have reduced fertility
• Molecular characterization of autosomal recessive non syndromic hearing loss in selected families from District Mardan, Pakistan
• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
• Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients
• Normal central retinal function and structure preserved in retinitis pigmentosa
• Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
• Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
• Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane
• Prevalence of Jervell-Lange Nielsen syndrome in children with congenital bilateral sensorineural hearing loss
• Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome
• Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance
• Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss
• Significance of unilateral enlarged vestibular aqueduct
• Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
• Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation
• The <em>GJB2</em> (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
• The Genetics of Usher Syndrome in the Israeli and Palestinian Populations
• The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct
• The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
• Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness
• Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
• Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
• Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
• Variations in the cochlear implant experience in children with enlarged vestibular aqueduct
• Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct
• Vestibular dysfunction in DFNB1 deafness
• X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure