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Análisis genético del locus DFNB1 en individuos ecuatorianos con hipoacusia no sindrómica recesiva
(PUCE, 2014)
Se ha estimado que el 60% de casos con hipoacusia se dan por factores genéticos; dentro de los factores genéticos, la hipoacusia no sindrómica recesiva es la forma más común de hipoacusia hereditaria. Debido a esto, se ...
Strategies for genetic study of hearing loss in the Brazilian northeastern region
(E-Century Publishing CorporationMadison, 2014-02)
The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region. A cross-sectional study, based on the key informant ...
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
(Wiley-blackwellMaldenEUA, 2010)
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
(NATURE PUBLISHING GROUP, 2008)
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred ...
Screening for the GJB2 c.-3170 G > A (IVS 1+1 G > A) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation-Dependent Probe Amplification
(Mary Ann Liebert IncNew RochelleEUA, 2009)
Searching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Technique
(Mary Ann Liebert IncNew RochelleEUA, 2011)
Molecular genetics study of deafness in Brazil: 8-year experience
(Wiley-lissHobokenEUA, 2007)
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients
(Blackwell MunksgaardCopenhagenDinamarca, 2002)
Molecular study in Brazilian cochlear implant recipients
(Wiley-lissHobokenEUA, 2007)
Etiologic and diagnostic evaluation: Algorithm for severe to profound sensorineural hearing loss in Brazil
(Informa HealthcareLondonInglaterra, 2013)