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

Publish Date: 02/06/2013

Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation

2013 Yoneda

Publish Date: 12/07/2012

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

2013 Livingston

Publish Date: 11/01/2012

Recognizable phenotypes associated with intracranial calcification

2013 Lemmens

Publish Date: 10/12/2012

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

2012 Tonduti

Publish Date: 08/29/2012

COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers

2013 Garel

Publish Date: 07/18/2012

Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty

2012 Lichtenbelt

Publish Date: 05/09/2012

Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage

2012 Degerliyurt

Publish Date: 04/01/2012

A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

2012 Verbeek

Publish Date: 02/15/2012

COL4A2 mutation associated with familial porencephaly and small-vessel disease

2012 deVries

Publish Date: 02/01/2012

Intracerebral Hemorrhage and COL4A1 and COL4A2 Mutations, from Fetal Life into Adulthood

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