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porencephaly/creatina
L'enllaç es desa al porta-retalls
6 resultats
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
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OBJECTIVE
Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations.
METHODS
We screened for COL4A1
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
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Type IV collagen α1 and α2 chains form heterotrimers that constitute an essential component of basement membranes. Mutations in COL4A1, encoding the α1 chain, cause a multisystem disease with prominent cerebrovascular manifestations, including porencephaly, bleeding-prone cerebral small vessel
[Brain damage in asphyxiated newborn infants: early diagnosis. A follow-up study].
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Cranial computerized tomographic (CT) scan and serum creatine phosphokinase-BB(CPK-BB) determination were done in 85 asphyxiated newborn infants, in some of them, long-term follow-up study including neurodevelopmental assessment and CT scan were also carried out. The types of early brain damage
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.
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We report our experience with a preterm infant with severe hemolytic jaundice who required exchange transfusion just after birth. The patient was negative for alloimmune hemolysis as a result of maternal-fetal blood type incompatibility, and tests for inherited defects in erythrocyte metabolism,
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
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Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts.
We used genome-wide linkage analysis,
Further refinement of COL4A1 and COL4A2 related cortical malformations.
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Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed to clarify the phenotypic spectrum of
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