Research Papers

Research Papers are ordered by date, newest to oldest.  Click the paper name or read more link to see details (excerpt) and to access the file that is available for download. 
2013 Rodahl
Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation
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2013 Yoneda
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
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2013 Livingston
Recognizable phenotypes associated with intracranial calcification
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2013 Lemmens
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
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2012 Tonduti
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
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2013 Garel
Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty
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2012 Lichtenbelt
Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage
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2012 Degerliyurt
A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?
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2012 Verbeek
COL4A2 mutation associated with familial porencephaly and small-vessel disease
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2012 deVries
Intracerebral Hemorrhage and COL4A1 and COL4A2 Mutations, from Fetal Life into Adulthood
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