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

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

2015 Meuwissen

Publish Date: 02/26/2015

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

2015 Slavotinek

Publish Date: 01/06/2015

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

2015 Takenouchi

Publish Date: 01/01/2015

Porencephaly in a Fetus and HANAC in Her Father: Variable Expression of COL4A1 Mutation

2014 Zenteno

Publish Date: 09/17/2014

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

2014 Renard

Publish Date: 09/09/2014

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications

2014 Papandreou

Publish Date: 05/27/2014

COL4A1 mutations should not be a contraindication for epilepsy surgery

2016 Tomotaki

Publish Date: 05/23/2014

Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation

2014 Kuo

Publish Date: 11/07/2013

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

2013 Corlobe

Publish Date: 07/10/2013

COL4A1 Mutation Revealed by an Isolated Brain Hemorrhage

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