Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

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' Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran' 의 주제별 논문영향력
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주제
  • Hearing loss · Autosomal recessive non-syndromic hearing loss · Gap junction protein beta 2
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
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' Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran' 의 참고문헌

  • Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss
  • Unresolved questions regarding human hereditary deafness
    Rehman AU [2017]
  • Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum
    Zhang Y [2010]
  • The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study
  • The prevalence of gap junction protein beta 2 (GJB2) mutations in non syndromic sensorineural hearing loss in Çukurova region
  • The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece
    Lucotte G [2005]
  • Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method
    Dehkordi FA [2013]
  • Spectrum and frequency of the GJB2 gene pathogenic variants in a large cohort of patients with hearing impairment living in a subarctic region of Russia (the Sakha Republic)
  • Protective effects of beta glucan in brain tissues of post-menopausal rats: a histochemical and ultra-structural study
    Selli J [2016]
  • Prevalent connexin 26 gene (GJB2) mutations in Japanese
    Abe S [2000]
  • Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
    Denoyelle F [1997]
  • Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity
    Angeli SI [2008]
  • Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
    Hamelmann C [2001]
  • Optimizing exact genetic linkage computations
    Fishelson M [2004]
  • Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    Kelley PM [1998]
  • Mutation analysis of the GJB2 (connexin 26) gene in Egypt
    Snoeckx RL [2005]
  • Low frequency of deafness-associated GJB2variants in Kenya and Sudan and novel GJB2 variants
  • Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study
    Palmer CG [2014]
  • High frequency hearing loss correlated with mutations in the GJB2 gene
    Wilcox SA [2000]
  • High carrier frequency of the GJB2 mutation (35delG) in the north of Iran
  • Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
    Shahin H [2002]
  • GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations:report of two novel variants
    Koohiyan M [2018]
  • Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
    Mani RS [2009]
  • Frequency and the mutation spectrum of GJB2-related disorders of hearing in children from Dagestan as compared with the central European part of Russia
    Bozhkova VP [2010]
  • Detection of connexion 26 GENE (GJB2) mutations in cases of congenital non syndromic deafness
    Banjara H [2016]
  • Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
  • Autosomal recessive nonsyndromic deafness genes: a review
    Duman D [2012]
  • Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China
    Xu BC [2014]
  • Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population
    Simsek M [2001]
  • A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss