De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

[1]  R. Hennekam,et al.  Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly , 2011, Neurology.

[2]  K. Vahedi,et al.  Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. , 2011, Current opinion in neurology.

[3]  S. Lanfranconi,et al.  COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease: A Systematic Review , 2010, Stroke.

[4]  S. Alamowitch,et al.  Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome , 2009, Neurology.

[5]  P. Govaert.  Prenatal stroke. , 2009, Seminars in fetal & neonatal medicine.

[6]  B. Hudson,et al.  Mammalian collagen IV , 2008, Microscopy research and technique.

[7]  J. Orgogozo,et al.  COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke , 2007, Annals of neurology.

[8]  J. Sundberg,et al.  Role of COL4A1 in small-vessel disease and hemorrhagic stroke. , 2006, The New England journal of medicine.

[9]  Roger E. Stevenson,et al.  Human Malformations and Related Anomalies , 2006 .

[10]  W. Arts,et al.  Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly , 2005, Journal of Medical Genetics.

[11]  P. Heutink,et al.  Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly , 2005, Science.

[12]  W. Arts,et al.  Hereditary porencephaly: clinical and MRI findings in two Dutch families. , 2004, European journal of paediatric neurology.

[13]  R. McKinstry,et al.  Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection—an illustrative report , 2003, Prenatal diagnosis.

[14]  A. Verloes,et al.  Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. , 2002, American journal of medical genetics.

[15]  Anna Gajko-Galicka.  Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. , 2002, Acta biochimica Polonica.

[16]  J. Engel,et al.  The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. , 1991, Annual review of biophysics and biophysical chemistry.