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. 
2016 Smigiel
Novel COL4A1 Mutation in an Infant with Severe Dysmorphic Syndrome with Schizencephaly, Periventricular Calcifications, and Cataract Resembling Congenital Infection
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2016 Alavi
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy
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2016 Ha
A Mutation in COL4A2 Causes Autosomal Dominant Porencephaly With Cataracts
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2016 Gasparini
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation
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2016 Jones
ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice
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2015 Mao
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice
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2015 John
COL4A1 gene mutation – beyond a vascular syndrome
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2015 Plancher
Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma
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2015 Giorgio
Two families with novel missense mutations in COL4A1: When diagnosis can be missed
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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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