Pages that link to "Q28185082"
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The following pages link to Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations (Q28185082):
Displaying 50 items.
- Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4) (Q24670174) (← links)
- Genetic factors that might lead to different responses in individuals exposed to perchlorate (Q24810715) (← links)
- Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis (Q26774741) (← links)
- Genetics of hearing and deafness (Q26865293) (← links)
- SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct (Q27010177) (← links)
- Genetic causes of congenital hypothyroidism due to dyshormonogenesis (Q27690798) (← links)
- SLC26A3 mutations in congenital chloride diarrhea (Q28215471) (← links)
- Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center (Q28479205) (← links)
- Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China (Q28710550) (← links)
- Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome (Q30368439) (← links)
- Integration of human and mouse genetics reveals pendrin function in hearing and deafness (Q30451829) (← links)
- Transcriptional regulation of the pendrin gene (Q30451832) (← links)
- Etiology and audiological outcomes at 3 years for 364 children in Australia (Q30455691) (← links)
- Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct (Q30469390) (← links)
- Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China (Q30486353) (← links)
- In silico analysis of 2085 clones from a normalized rat vestibular periphery 3' cDNA library (Q30501231) (← links)
- At the speed of sound: gene discovery in the auditory system (Q30502974) (← links)
- The solute carrier 26 family of proteins in epithelial ion transport (Q31152083) (← links)
- Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening (Q33312492) (← links)
- Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice (Q33644508) (← links)
- Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes (Q34137666) (← links)
- Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. (Q34190912) (← links)
- Genotype-phenotype correlations for SLC26A4-related deafness. (Q34661803) (← links)
- Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome (Q34738756) (← links)
- Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts (Q34960772) (← links)
- Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility (Q35017881) (← links)
- Etiology of syndromic and nonsyndromic sensorineural hearing loss (Q35027888) (← links)
- Genetic screening for deafness. (Q35155570) (← links)
- Genetic screening for hearing loss. (Q35181560) (← links)
- Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models (Q35243789) (← links)
- Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness (Q35442102) (← links)
- Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct (Q35477577) (← links)
- Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition (Q35485037) (← links)
- Human Nonsyndromic Sensorineural Deafness (Q35550640) (← links)
- SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct (Q35581240) (← links)
- Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China (Q35739700) (← links)
- The genetic bases for non-syndromic hearing loss among Chinese (Q35879586) (← links)
- The pendrin anion exchanger gene is transcriptionally regulated by uroguanylin: a novel enterorenal link (Q35964499) (← links)
- SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct (Q36123225) (← links)
- Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay (Q36924755) (← links)
- Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA (Q36976334) (← links)
- SLC26A4 mutations in patients with moderate to severe hearing loss (Q37022173) (← links)
- Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis (Q37072900) (← links)
- Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? (Q37144696) (← links)
- Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis. (Q37172997) (← links)
- Myosin II regulates extension, growth and patterning in the mammalian cochlear duct. (Q37200935) (← links)
- A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome (Q37243206) (← links)
- Diverse transport modes by the solute carrier 26 family of anion transporters (Q37327853) (← links)
- Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome (Q37393466) (← links)
- Cortical distal nephron Cl(-) transport in volume homeostasis and blood pressure regulation (Q37476558) (← links)