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. 
2015 Jeanne
Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention
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2015 Meuwissen
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
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2015 Slavotinek
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects
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2015 Takenouchi
Porencephaly in a Fetus and HANAC in Her Father: Variable Expression of COL4A1 Mutation
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2014 Zenteno
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity
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2014 Renard
Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications
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2014 Papandreou
COL4A1 mutations should not be a contraindication for epilepsy surgery
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2016 Tomotaki
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation
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2014 Kuo
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations
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2013 Corlobe
COL4A1 Mutation Revealed by an Isolated Brain Hemorrhage
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