Research By Disease – CheckOrphan

Disease: Nonsyndromic hereditary sensorineural hearing loss

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
A New Pathogenic Variant in the TRIOBP Associated with Profound Deafness Is Remediable with Cochlear Implantation
A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family
A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing
A review of diagnosis and treatment of syndromic hearing loss
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene
Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss
Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss
Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies
Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient
Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains
Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation
Genetic diagnosis of childhood sensorineural hearing loss
Genetic etiology of hearing loss in Iran
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome
Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran
Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families
Hearing loss due to mutations in the genes responsible for Usher syndrome
Hearing loss due to mutations or lack of the gene coding protein stereocillin
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania
Hereditary hearing loss
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss
Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing
Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS
Identifications of the novel mutants on MYO7A in a family with non-syndromic hereditary deafness
Identifications of the novel mutants on MYO7A in a family with non-syndromic hereditary deafness
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
Mitochondrial tRNA(Ser(UCN)) mutations associated non-syndromic sensorineural hearing loss in Chinese families
Modeling gap junction beta 2 gene-related deafness with human iPSC
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene
Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene
Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice
Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations
Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations
Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene
Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss
Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4
Single gene variants causing deafness in Asian Indians
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice
The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
Valproic Acid Inhibits Progressive Hereditary Hearing Loss in a KCNQ4 Variant Model through HDAC1 Suppression
Volumetric Analysis of Hearing-Related Structures of Brain in Children with GJB2-Related Congenital Deafness
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study