Connexin 26 studies in patients with sensorineural hearing loss.
暂无分享,去创建一个
H. Rehm | D. Cotanche | B. Korf | B. Wu | M. Kenna | H L Rehm | B R Korf | M A Kenna | B L Wu | D A Cotanche | Heidi L. Rehm | Bai-lin Wu
[1] W. Kimberling,et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese , 2000, Journal of medical genetics.
[2] Y. Matsubara,et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. , 2000, American journal of medical genetics.
[3] R. Williamson,et al. High frequency hearing loss correlated with mutations in the GJB2 gene , 2000, Human Genetics.
[4] D. Kelsell,et al. Connexin mutations in deafness , 1998, Nature.
[5] R. Dermietzel,et al. Gap junctions in health and disease , 1998, Virchows Archiv.
[6] N. E. MORTON,et al. Genetic Epidemiology of Hearing Impairment , 1991, Annals of the New York Academy of Sciences.
[7] V. Sheffield,et al. Connexin mutations and hearing loss , 1998, Nature.
[8] X. Estivill,et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene , 1999, Human Genetics.
[9] K. Billings,et al. Causes of pediatric sensorineural hearing loss: yesterday and today. , 1999, Archives of otolaryngology--head & neck surgery.
[10] X. Estivill,et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness , 1998, The Lancet.
[11] R. Bruzzone,et al. Connexin 26 gene linked to a dominant deafness , 1998, Nature.
[12] D. Kelsell,et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness , 1997, nature.
[13] Petros Syrris,et al. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) , 2000, Journal of medical genetics.
[14] C. Petit,et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. , 1997, Human molecular genetics.
[15] W. Reardon,et al. Hereditary Hearing Loss and its Syndromes , 1995 .
[16] G. B. Schaefer,et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) , 1999, Pediatrics.
[17] C. Petit,et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling , 1999, The Lancet.
[18] 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.
[19] G. Taylor,et al. Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings. , 1999, International journal of pediatric otorhinolaryngology.
[20] C. Cremers,et al. Nonsyndromal Profound Genetic Deafness in Childhood , 1991, Annals of the New York Academy of Sciences.
[21] K. Steel. Progress in Progressive Hearing Loss , 1998, Science.
[22] Richard J. H. Smith,et al. Temporal Bone Histopathology in Connexin 26–Related Hearing Loss , 2000, The Laryngoscope.