GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families.
暂无分享,去创建一个
[1] L. Lan,et al. Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit. , 2013, International journal of pediatric otorhinolaryngology.
[2] Yi-ming Zhu,et al. Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China , 2013, Acta oto-laryngologica.
[3] S. Abdelhak,et al. Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. , 2013, Gene.
[4] A. Bittles,et al. Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil. , 2013, International journal of pediatric otorhinolaryngology.
[5] C. Möller,et al. GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort , 2012, Acta oto-laryngologica.
[6] Hong Li,et al. [A literature review of epidemiological studies on mutation hot spots of Chinese population with non-syndromic hearing loss]. , 2012, Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery.
[7] L. Kádasi,et al. Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. , 2012, International journal of pediatric otorhinolaryngology.
[8] F. Liang,et al. Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China. , 2012, International journal of pediatric otorhinolaryngology.
[9] Siqing Fu,et al. GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China. , 2011, International journal of pediatric otorhinolaryngology.
[10] Guo-jian Wang,et al. Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 , 2010, Journal of Translational Medicine.
[11] S. Nishio,et al. A large cohort study of GJB2 mutations in Japanese hearing loss patients , 2010, Clinical genetics.
[12] Siqing Fu,et al. Prevalence and Etiology of Hearing Loss in Primary and Middle School Students in the Hubei Province of China , 2010, Audiology and Neurotology.
[13] Y. You,et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China , 2009, Journal of Translational Medicine.
[14] B. Wu,et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment , 2009, Journal of Translational Medicine.
[15] Akihiro Miyazaki,et al. Journal of Translational Medicine Comparative Study on the Immunogenicity between an Hla-a24-restricted Cytotoxic T-cell Epitope Derived from Survivin and That from Its Splice Variant Survivin-2b in Oral Cancer Patients , 2009 .
[16] M. Tekin,et al. A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. , 2008, American journal of human genetics.
[17] M. Tekin,et al. Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification , 2007, American journal of medical genetics. Part A.
[18] B. Han,et al. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population , 2007, Genetics in Medicine.
[19] M. Tekin,et al. The c.IVS1+1G>A mutation intheGJB2 gene is prevalent and large deletions involving theGJB6 gene are not present in the Turkish population , 2006, Journal of Genetics.
[20] I. Schrijver. Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. , 2004, The Journal of molecular diagnostics : JMD.
[21] W. Nance,et al. Relevance of connexin deafness (DFNB1) to human evolution. , 2004, American journal of human genetics.
[22] X. Estivill,et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. , 2003, American journal of human genetics.
[23] F. Telischi,et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population , 2002, Human Genetics.
[24] A. Kenneson,et al. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review , 2002, Genetics in Medicine.
[25] N. Matsushiro,et al. Successful Cochlear Implantation in Prelingual Profound Deafness Resulting From the Common 233delC Mutation of the GJB2 Gene in the Japanese , 2002, The Laryngoscope.
[26] A. Pandya,et al. Relation between choice of partner and high frequency of connexin-26 deafness , 2000, The Lancet.
[27] H. Ostrer,et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. , 1998, The New England journal of medicine.
[28] B Müller-Myhsok,et al. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. , 1998, The New England journal of medicine.
[29] D. Kelsell,et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness , 1997, nature.
[30] Y. Xu,et al. Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China. , 1994, American journal of medical genetics.
[31] M. Feldman,et al. Cultural transmission of a sign language when deafness is caused by recessive alleles at two independent loci. , 1994, Theoretical population biology.
[32] Bencie Woll,et al. Deafness and hearing impairment. , 2010, European review for medical and pharmacological sciences.
[33] C. Panagi,et al. High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. , 2006, Genetic testing.
[34] X. Estivill,et al. High carrier frequency of the 35delG deafness mutation in European populations , 2000, European Journal of Human Genetics.
[35] K. Avraham,et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population , 1999, Human Genetics.
[36] A. Markham,et al. Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. , 1996, Human molecular genetics.
[37] H. Chaabani,et al. Genetic heterogeneity study of non-syndromic autosomal recessive sensorineural deafness within the Tunisian population. , 1995, Annales de Genetique.
[38] Jerome D. Schein,et al. THE DEAF POPULATION OF THE UNITED STATES , 1974 .