dc.creator | Piatto V.B. | |
dc.creator | Nascimento E.C.T. | |
dc.creator | Alexandrino F. | |
dc.creator | Oliveira C.A. | |
dc.creator | Lopes A.C.P. | |
dc.creator | Sartorato E.L. | |
dc.creator | Maniglia J.V. | |
dc.date | 2005 | |
dc.date | 2015-06-26T14:06:27Z | |
dc.date | 2015-11-26T15:00:57Z | |
dc.date | 2015-06-26T14:06:27Z | |
dc.date | 2015-11-26T15:00:57Z | |
dc.date.accessioned | 2018-03-28T22:12:06Z | |
dc.date.available | 2018-03-28T22:12:06Z | |
dc.identifier | | |
dc.identifier | Revista Brasileira De Otorrinolaringologia. , v. 71, n. 2, p. 216 - 223, 2005. | |
dc.identifier | 347299 | |
dc.identifier | | |
dc.identifier | http://www.scopus.com/inward/record.url?eid=2-s2.0-20344382047&partnerID=40&md5=3f548aa97d314955eb383e4dca76ff73 | |
dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/93126 | |
dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/93126 | |
dc.identifier | 2-s2.0-20344382047 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1256226 | |
dc.description | One in every 1.000 newborn suffers from congenital hearing impairment. More than 60% of the congenital cases are caused by genetic factors. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors. Molecular genetics of deafness has experienced remarkable progress in the last decade. Genes responsible for hereditary hearing impairment are being mapped and cloned progressively. This review focuses on nonsyndromic hearing loss, since the gene involved in this type of hearing loss have only recently begun to be identified. | |
dc.description | 71 | |
dc.description | 2 | |
dc.description | 216 | |
dc.description | 223 | |
dc.description | Bitner-Glindzicz, M., Hereditary deafness and phenotyping in humans (2002) Br Med Bull, 63, pp. 73-94 | |
dc.description | Van Laer, L., Cryns, K., Smith, R.J., Van Camp, G., Nonsyndromic hearing loss (2003) Ear Hear, 24, pp. 275-288 | |
dc.description | Cryns, K., Van Camp, G., Deafness genes and their diagnostic applications (2004) Audiol Neurootol, 9, pp. 2-22 | |
dc.description | Davis, R.L., Gradients of neurotrophins, ion channels, and tuning in the cochlea (2003) Neuroscientist, 9, pp. 311-316 | |
dc.description | Libby, R.T., Steel, K.P., The roles of unconventional myosins in hearing and deafness (2000) Essays Biochem, 35, pp. 159-174 | |
dc.description | Tamagawa, Y., Ishikawa, K., Ishida, T., Kitamura, K., Makino, S., Tsuru, T., Ichimura, K., Phenotype of DFNA11: A nonsyndromic hearing loss caused by a myosin VIIA mutation (2002) Laryngoscope, 112, pp. 292-297 | |
dc.description | Ahmed, Z.M., Riazuddin, S., Wilcox, E.R., The molecular genetics of Usher syndrome (2003) Clin Genet, 63, pp. 431-444 | |
dc.description | Belyantseva, I.A., Boger, E.T., Friedman, T.B., Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle (2003) Proc Natl Acad Sci USA, 25, pp. 13958-13963 | |
dc.description | Ahmed, Z.M., Morell, R.J., Riazuddin, S., Gropman, A., Shaukat, S., Ahmad, M.M., Mutations of MYO6 are associated with recessive deafness, DFNB37 (2003) Am J Hum Genet, 72, pp. 1315-1322 | |
dc.description | Walsh, T., Walsh, V., Vreugde, S., Dertzano, R., Shahin, H., Haika, From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30 (2002) Proc Natl Acad Sci USA, 99, pp. 7518-7523 | |
dc.description | Johnson, K.R., Gagnon, L.H., Webb, L.S., Peters, L.L., Hawes, N.L., Chang, B., Zheng, Q.Y., Mouse models of UHS1C and DFBN18: Phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene (2003) Hum Mol Genet, 12, pp. 3075-3086 | |
dc.description | Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 (2003) Nat Genet, 34, pp. 421-428 | |
dc.description | Bork, J.M., Morell, R.J., Khan, S., Riazuddin, S., Wilcox, E.R., Friedman, T.B., Griffith, A.J., Clinical presentation of DFNB12 and Usher syndrome type ID (2002) Adv Otorhinolaryngol, 61, pp. 145-152 | |
dc.description | Leon, P.E., Lalwani, A.K., Auditory phenotype of DFNA1 (2002) Adv Otorhinolaryngol, 61, pp. 34-40 | |
dc.description | De Leenheer, E.M., Ensink, R.J., Kunst, H.P., Marres, H.A., Talebizadeh, Z., Declau, F., DFNA2/KCNQ4 and its manifestations (2002) Adv Otorhinolaryngol, 61, pp. 41-46 | |
dc.description | Denoyelle, F., Petit, C., DFNB9 (2002) Adv Otorhinolaryngol, 61, pp. 142-144 | |
dc.description | Wiess, S., Gottfried, I., Mayrose, I., Khare, S.L., Xiang, M., Dawson, S.J., Avraham, K.B., The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity (2003) Mol Cell Biol, 23, pp. 7957-7964 | |
dc.description | Wang, H.L., Chang, W.T., Li, A.H., Yeh, T.H., Wu, C.Y., Chen, M.S., Huang, P.C., Functional analysis of connexin-26 mutants associated with hereditary recessive deafness (2003) J Neurochem, 84, pp. 735-742 | |
dc.description | Mhatre, A.N., Weld, E., Lalwani, A.K., Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment (2003) Clin Genet, 63, pp. 154-159 | |
dc.description | Del Castillo, I., Villamar, M., Moreno-Pelayo, M.A., Del Castillo, F.J., Alvare Telleria, D., Menendez, I., Moreno, F., A deletion involving the connexin 30 gene in nonsyndromic hearing impairment (2002) N Engl J Med, 346, pp. 243-249 | |
dc.description | Wilcox, E.R., Everett, L.A., Li, X.C., Lalwani, A.K., Green, E.D., The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4 (2000) Adv Otorhinolaryngol, 56, pp. 145-151 | |
dc.description | Ahmed, Z.M., Riazuddin, S., Friedman, T.B., Riazuddin, S., Wilcox, E.R., Griffith, A.J., Clinical manifestations of DFNB29 deafness (2002) Adv Otorhinolaryngol, 61, pp. 156-160 | |
dc.description | Usami, S., Takahashi, K., Yuge, I., Ohtsuka, A., Namba, A., Abe, S., Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Ménière's disease (2003) Eur J Hum Genet, 11, pp. 744-748 | |
dc.description | De Leenheer, E.M., Huygen, P.L., Wayne, S., Verstreken, M., Declau, F., Van Camp, G., DFNA10/EYA4 - The clinical picture (2002) Adv Otorhinolaryngol, 61, pp. 73-78 | |
dc.description | Cremers, C.W., Snik, A.F., Huygen, P.L., Joosten, F.B., Cremers, F.P., X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFNB3) (2002) Adv Otorhinolaryngol, 61, pp. 161-167 | |
dc.description | De Leenheer, E.M., McGuirt, W.T., Kunst, H.P., Huygen, P.L., Smith, R.J., Cremers, C.W., The phenotype of DFNA13/COL11A2 (2002) Adv Otorhinolaryngol, 61, pp. 85-91 | |
dc.description | Denoyelle, F., Mustapha, M., Petit, C., DFNB21 (2002) Adv Otorhinolaryngol, 61, pp. 153-155 | |
dc.description | Borg, E., Samuelsson, E., Dahal, N., Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss (2000) Acta Otolaryngol, 120, pp. 51-57 | |
dc.description | Del Castillo, F.J., Rodriguez-Ballesteros, M., Martin, Y., Arellano, B., Gallo-Teran, J., Morales-Angulo, C., Heteroplasmy for the 1555A→G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss (2003) J Med Genet, 40, pp. 632-636 | |
dc.description | Van Den Bogaert, K., Govaerts, P.J., Schatteman, I., Brown, M.R., Caethoven, G., Offeciers, F.E., A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36 (2001) Am J Hum Genet, 68, pp. 495-500 | |
dc.language | pt | |
dc.publisher | | |
dc.relation | Revista Brasileira de Otorrinolaringologia | |
dc.rights | aberto | |
dc.source | Scopus | |
dc.title | Molecular Genetics Of Non-syndromic Deafness [genética Molecular Da Deficiência Auditiva Não-sindrômica] | |
dc.type | Artículos de revistas | |