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

Gould Syndrome Foundation

We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes.
Gould Syndrome Foundation badge
© Copyright 2024 by Gould Syndrome Foundation -
 site by Selser Media