Associated Papers
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Muhammad A et al.
Clinical Genetics, 2026
Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors.
Leitinger M et al.
Epilepsia Open, 2025
Genetics of intracerebral hemorrhage.
Kimball TN et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
New insights into mechanisms of small vessel disease stroke from genetics.
Tan R et al.
Clinical Science (london, England : 1979), 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha TT et al.
American Journal of Medical Genetics. Part A, 2016
Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.
Adams JN et al.
Cardiovascular Diabetology, 2014
24725463 (PubMed )
Supplement: 1475-2840-13-77-S1.xls › Sheet1
Current concepts and clinical applications of stroke genetics.
Falcone GJ et al.
The Lancet. Neurology, 2014
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
Gunda B et al.
Journal of Neurology, 2014
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M et al.
American Journal of Human Genetics, 2012
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