Knobloch Syndrome
Mostrando 1-4 de 4 artigos, teses e dissertações.
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1. "Estudo funcional do colágeno tipo XVIII" / Functional study of the type XVIII collagen
A síndrome de Knobloch (SK) é uma doença autossômica recessiva rara, caracterizada por problemas oculares e presença de encefalocele occipital, porém o quadro clínico é variável. Os pacientes apresentam principalmente miopia de grau elevado, degeneração vítreo-retiniana e descolamento de retina; o grau de comprometimento da alteração no occipit
Publicado em: 2006
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2. Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect. The responsible gene, COL18A1, has been mapped to 21q22.3, and, on the basis of the analysis of one family, we have demonstrated that a mutation affecting only one of the thre
The American Society of Human Genetics.
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3. Lack of collagen XVIII/endostatin results in eye abnormalities
Mice lacking collagen XVIII and its proteolytically derived product endostatin show delayed regression of blood vessels in the vitreous along the surface of the retina after birth and lack of or abnormal outgrowth of retinal vessels. This suggests that collagen XVIII/endostatin is critical for normal blood vessel formation in the eye. All basement membrane
Oxford University Press.
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4. Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.
In order to test whether the direct molecular diagnostic approach for fragile X mental retardation (Martin-Bell syndrome, MBS) really makes diagnosis of this disease more precise, we evaluated the results of direct diagnosis in 40 German families at risk together with the results of an earlier study with closely linked flanking markers in the same families.