Author: "Schoor, S.R. van der" / Publication Type: Electronic Resources - Searchworks@Jio Institute Digital Library Search Results

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Author: Vermeulen, R.J., Peeters-Scholte, C., Vugt, J.M.G. van, Barkhof, F., Rizzu, P., Schoor, S.R. van der, Knaap, M.S. van der, Vermeulen, R.J., Peeters-Scholte, C., Vugt, J.M.G. van, Barkhof, F., Rizzu, P., Schoor, S.R. van der, and Knaap, M.S. van der
Abstract: 1 februari 2011, Item does not contain fulltext, Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. Previously, COL4A1 mutation-associated antenatal hemorrhages have been suggested by early post-natal imaging. We describe 2 children with fetal intracerebral hemorrhages and a COL4A1 mutation. There was also extensive hemispheric tissue loss in both infants and loss of cerebellar tissue in one infant. This paper show prenatal evidence of fetal hemorrhage in association with a COL4A1 mutation.
Published: 2011

Author: Vermeulen, R.J., Peeters-Scholte, C., Vugt, J.M.G. van, Barkhof, F., Rizzu, P., Schoor, S.R. van der, Knaap, M.S. van der, Vermeulen, R.J., Peeters-Scholte, C., Vugt, J.M.G. van, Barkhof, F., Rizzu, P., Schoor, S.R. van der, and Knaap, M.S. van der
Abstract: 01 februari 2011, Item does not contain fulltext, Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. Previously, COL4A1 mutation-associated antenatal hemorrhages have been suggested by early post-natal imaging. We describe 2 children with fetal intracerebral hemorrhages and a COL4A1 mutation. There was also extensive hemispheric tissue loss in both infants and loss of cerebellar tissue in one infant. This paper show prenatal evidence of fetal hemorrhage in association with a COL4A1 mutation.
Published: 2011

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