相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly
Yuriko Yoneda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage
Yi-Chinn Weng et al.
ANNALS OF NEUROLOGY (2012)
A developmental and genetic classification for malformations of cortical development: update 2012
A. James Barkovich et al.
BRAIN (2012)
Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage
K. D. Lichtenbelt et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2012)
Intracerebral hemorrhage in a young man
Shelagh B. Coutts et al.
CANADIAN MEDICAL ASSOCIATION JOURNAL (2011)
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease
Katayoun Vahedi et al.
CURRENT OPINION IN NEUROLOGY (2011)
SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY
M. E. C. Meuwissen et al.
NEUROLOGY (2011)
COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
J. Livingston et al.
NEUROPEDIATRICS (2011)
COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans
Cassandre Labelle-Dumais et al.
PLOS GENETICS (2011)
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
Hirotomo Saitsu et al.
EPILEPSIA (2010)
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume
Tom Van Agtmael et al.
HUMAN MOLECULAR GENETICS (2010)
COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease A Systematic Review
Silvia Lanfranconi et al.
STROKE (2010)
COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage
Linda S. de Vries et al.
ANNALS OF NEUROLOGY (2009)
'Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
S. Alamowitch et al.
NEUROLOGY (2009)
Mammalian collagen IV
Jamshid Khoshnoodi et al.
MICROSCOPY RESEARCH AND TECHNIQUE (2008)
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Hirotomo Saitsu et al.
NATURE GENETICS (2008)
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
Emmanuelle Plaisier et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon et al.
ANNALS OF NEUROLOGY (2007)
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus:: An extension of the Col4α1 allelic series and the identification of the first two Col4a2 mutant Alleles
Jack Favor et al.
GENETICS (2007)
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
KA Strauss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
MS van der Knaap et al.
ANNALS OF NEUROLOGY (2006)
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
G. Breedveld et al.
JOURNAL OF MEDICAL GENETICS (2006)
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
DB Gould et al.
SCIENCE (2005)