De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
暂无分享,去创建一个
K. Yokochi | H. Arai | N. Matsumoto | N. Miyake | Y. Tsurusaki | Mitsuhiro Kato | H. Osaka | H. Saitsu | K. Haginoya | H. Doi | S. Yamaoka | Y. Yoneda | Yuriko Yoneda | Shigeo Yamaoka
[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.