Syndromic Deafness
Mostrando 1-12 de 14 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. 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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3. 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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4. 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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5. 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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6. 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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7. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently bala
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8. Medical genetics: advances in brief: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
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9. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy
Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait. CDPD and autosomal recessive, non‐syndromic congenital hereditary endothelial corneal dystrophy (CHED2) both map at overlapping loci at 20p13, a
BMJ Group.
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10. Sensorineural deafness inherited as a tissue specific mitochondrial disorder.
We present here a large Israeli-Arab kindred with hereditary deafness. In this family 55 deaf subjects (29M, 26F), who are otherwise healthy, have been identified and traced back five generations to one common female ancestor. The deafness is progressive in nature, usually presenting in infancy and childhood. Audiometry on six deaf and seven unaffected subje
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11. In vitro 3′-end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness
Eukaryotic tRNAs are transcribed as precursors. A 5′-end leader and 3′-end trailer are endonucleolytically removed by RNase P and 3′-tRNase before 3′-end CCA addition, aminoacylation, nuclear export and translation. 3′-End -CC can be a 3′-tRNase anti-determinant with the ability to prevent mature tRNA from recycling through 3′-tRNase. Twenty-tw
Oxford University Press.
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12. Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.
Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge. However, the molecular basis of the association between hearing loss and a defect in organification of iodide remains unclear. Pendred syndrom