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

Publish Date: 02/16/2016

Novel COL4A1 Mutation in an Infant with Severe Dysmorphic Syndrome with Schizencephaly, Periventricular Calcifications, and Cataract Resembling Congenital Infection

2016 Alavi

Publish Date: 01/27/2016

Col4a1 mutations cause progressive retinal neovascular defects and retinopathy

2016 Ha

Publish Date: 12/28/2015

A Mutation in COL4A2 Causes Autosomal Dominant Porencephaly With Cataracts

2016 Gasparini

Publish Date: 12/19/2015

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation

2016 Jones

Publish Date: 11/24/2015

ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice

2015 Mao

Publish Date: 10/22/2015

Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice

2015 John

Publish Date: 07/03/2015

COL4A1 gene mutation – beyond a vascular syndrome

2015 Plancher

Publish Date: 06/02/2015

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

2015 Giorgio

Publish Date: 04/07/2015

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

2015 Jeanne

Publish Date: 03/09/2015

Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention

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