Aniridia
Mostrando 13-24 de 55 artigos, teses e dissertações.
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13. Achados clínicos e genéticos de cinco pacientes com anomalias relacionadas ao gene WT1
OBJETIVO: Descrever a variabilidade fenotípica das anomalias relacionadas ao WT1. MÉTODOS: Descrição das características clínicas e genéticas de cinco pacientes 46,XY com anomalias no WT1. RESULTADOS: Paciente 1: Recém-nascido com ambigüidade genital desenvolveu tumor de Wilms (TW) e insuficiência renal crônica (IRC), com óbito aos 10 meses. Dete
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2008-11
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14. Prótese de íris, na aniridia traumática, como tentativa de controlar glaucoma refratário provocado pela presença de óleo de silicone na câmara anterior: relato de caso
O objetivo deste trabalho é demonstrar a eficácia da prótese iriana na resolução do glaucoma refratário, provocado pela presença de óleo de silicone na câmara anterior. Trata-se de paciente que sofreu trauma por estilhaços de projétil de arma de fogo. A cirurgia vítreo-retiniana visou a remoção dos corpos estranhos intra-oculares e posicionamen
Arquivos Brasileiros de Oftalmologia. Publicado em: 2005-06
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15. O diagnostico de aberrações cromossomicas estruturais : aplicações da citogenetica molecular a resolução de casos indefinidos pelas tecnicas classicas
Este trabalho teve por objetivo demonstrar a aplicação das técnicas de citogenética molecular(FISH,CGHe SKY)na resoluçãode casosde anomaliasestruturaise mixoploidias que não puderam ser solucionadospelas técnicas de citogenéticaclássica, e ainda de casos com suspeita de anomalias estruturais que não haviam sido comprovadas pelas mesmas técnicas.
Publicado em: 2005
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16. FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region
O estudo citogenético convencional em uma menina com aniridia esporádica resultou em uma aparente translocação balanceada t(11;13)(p13;q33) de novo. Entretanto, o estudo citogenético pela hibridação in situ fluorescente (FISH) detectou a presença de uma deleção críptica 11p13p14, incluindo a região WAGR e envolvendo aproximadamente 7.5 Mb de DNA,
Genetics and Molecular Biology. Publicado em: 2000-09
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17. Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.
Maximum likelihood analysis for linkage between autosomal dominant aniridia and 12 biochemical and serological markers in a single large family showed a probable linkage between autosomal dominant aniridia and the enzyme acid phosphatase-1. The presence of an autosomal dominant aniridia gene linked to acid phosphatase-1 on chromosome arm 2p and the existence
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18. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.
Nineteen patients were analysed by fluorescence in situ hybridisation (FISH) with selected 11p13 markers. They were examined because they had either isolated sporadic or familial aniridia, or aniridia with one or more of the WAGR (Wilms' tumour, aniridia, genital anomalies, and mental retardation) syndrome anomalies. The FISH markers from distal 11p13 were c
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19. FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).
A 2 year old female presenting with bilateral sporadic aniridia was found to have an apparently balanced reciprocal translocation with a chromosome 11 breakpoint within band p13. Fluorescence in situ hybridisation (FISH) studies with distal 11p13 specific cosmids showed that the chromosome 11 breakpoint lay between the aniridia (PAX6) locus and a region appr
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20. A new PAX6 mutation in familial aniridia.
Aniridia (lack of iris) is caused by loss of function mutations in one copy of the PAX6 gene. Here we present a new PAX6 splice mutation in a family with autosomal dominant aniridia. The mutation is a single nucleotide change which, although occurring within an exon, affects the splice junction consensus and results in skipping of that exon.
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21. 3′ deletions cause aniridia by preventing PAX6 gene expression
Aniridia is a panocular human eye malformation caused by heterozygous null mutations within PAX6, a paired-box transcription factor, or cytogenetic deletions of chromosome 11p13 that encompass PAX6. Chromosomal rearrangements also have been described that disrupt 11p13 but spare the PAX6 transcription unit in two families with aniridia. These presumably
The National Academy of Sciences.
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22. Traumatic aniridia and aphakia with scleral buckling: a case report.
A case is reported of a young man in whom blunt injury caused a horizontal corneal tear superiorly. Aniridia, aphakia, cyclodialysis with angle recession, minimal hyphaema, vitreous haemorrhage, choroidal rupture and striae, and scleral buckling resulted. Vision improved to 6/12+.
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23. Blue light hazard and aniridia.
The fundi of three patients with aniridia were photographed with a 470 nm illuminating light source. No apparent change in contrast was observable throughout the macular region. This would suggest an absence of the macular pigment. The likelihood of aniridics being more susceptible than normal persons to blue light damage is discussed.
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24. Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia
Seventy-seven patients with aniridia, referred for cytogenetic analysis predominantly to assess Wilms tumor risk, were studied by fluorescence in situ hybridization (FISH), through use of a panel of cosmids encompassing the aniridia-associated PAX6 gene, the Wilms tumor predisposition gene WT1, and flanking markers, in distal chromosome 11p13. Thirty patient
The American Society of Human Genetics.