HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect

‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

Altered stress fibers and integrin expression in the Malpighian epithelium of Drosophila type IV collagen mutants

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

Col4a1 mutations cause progressive retinal neovascular defects and retinopathy

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

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

A Mutation in COL4A2 Causes Autosomal Dominant Porencephaly With Cataracts

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

COL4A1 gene mutation – beyond a vascular syndrome

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

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

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

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

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

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

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

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