Nonsyndromic Deafness
Mostrando 1-12 de 31 artigos, teses e dissertações.
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1. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites pl
Genet. Mol. Biol.. Publicado em: 14/11/2014
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2. Cochlear function in ultra-high frequencies in parents of individuals with autosomal recessive hearing loss / Função coclear em frequências ultra-altas em pais de indivíduos com deficiência auditiva autossômica recessiva
INTRODUCTION: In nonsyndromic hearing loss of recessive autosomal heritage, caused by changes in the gene GJB2 (Gap Junction Bet-2 Protein), parents of individuals with hearing loss are heterozygous carriers of a recessive allele which causes deafness, however, are asymptomatic, but may present early and mild hearing changes. OBJECTIVE: Assessing the cochlea
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 14/12/2012
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3. Pesquisa de microrrearranjos em genes candidatos a surdez sindrômica e não-sindrômica / Screening of microimbalances in candidate genes for syndromic and nonsyndromic deafness
A complexidade da fisiologia da audição resulta da participação e interação de produtos de grande número de genes, razão pela qual a surdez hereditária exibe enorme heterogeneidade genética. Estudos moleculares nas duas últimas décadas permitiram a identificação de vários genes responsáveis por surdez; entretanto, muitos ainda restam ser iden
Publicado em: 2010
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4. A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing imp
Brazilian Journal of Medical and Biological Research. Publicado em: 2009-02
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5. Study of modulators genes associated to mutations in mitochondrial genes in individuals with non-syndromic deafness / Estudos de genes moduladores associados a mutações em genes mitocondriais em individuos com surdez não-sindromica
Hearing loss is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with aminoglycos
Publicado em: 2009
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6. Estudo molecular em individuos com surdez sensorioneural não-sindromica monoalelicos para mutações no gene GJB2 / Molecular study in subjects with sensorineural nonsyndromic deafness and monoallelics mutations in GJB2 gene
Mutations in the GJB2 gene (Cx26) are the most common cause of autosomal recessive nonsyndromic hearing loss. However, in 10 to 40% of these cases, mutations in Cx26 gene are detected in on1y one allele which causes a problem in molecular diagnostico These findings could be attributed to the existence of mutations in non-coding regions of the gene or mutatio
Publicado em: 2009
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7. Estudo da etiologia da surdez neurossensorial em recem-nascidos de alto risco / Etiological study of the sensorioneural deafness in high risk newborns
The frequency of sensorioneural hearing loss in high-risk newborns is 20-40 in 1000 births. In many cases, the cause is environmental, due to prenatal, perinatal and postnatal factors, or caused by genetic factors. The main objectives of this project were to determine the etiology of the hearing loss in children admitted into Neonatal Intensive Care Unit (NI
Publicado em: 2008
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8. A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-synd
Genetics and Molecular Biology. Publicado em: 2006
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9. Recurrence risks for isolated cases of nonsyndromic deafness
We present, in this paper, general formulae developed so as to permit the calculation of the recurrence risks for isolated cases of nonsyndromic deafness in the offspring of nonconsanguineous and consanguineous couples. We included, in all analyzed situations, the following factors: (a) a generic degree of parental consanguinity; (b) a variable proportion of
Genetics and Molecular Biology. Publicado em: 2004
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10. Estudo de mutações no gene GJB3 como causa de deficiencia auditiva neurossensorial não-sindromica
Deafness is one of the most common sensory defects in the general population and its prevalence increases with age. In developed countries about 60% of hearing loss cases are due to genetic factors. In Brazil the majority of cases of hearing loss are due to environmental factors. However, the proportion of genetic causes tends to increase as a result of impr
Publicado em: 2003
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11. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness
Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a
The American Society of Human Genetics.
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12. MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss
Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell’s waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD
The American Society of Human Genetics.