|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
LATERAL MENINGOCELE SYNDROME
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
MYOFIBROMATOSIS, INFANTILE, 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Cerebrovascular accident
|
|
0.030 |
GeneticVariation
|
BEFREE |
p.R544C <i>NOTCH3</i> mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke.
|
30656190 |
2019 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.
|
23602593 |
2013 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
|
12589106 |
2003 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
|
11559313 |
2001 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
|
12136071 |
2002 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.
|
15350543 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.
|
12146805 |
2002 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
|
26308724 |
2015 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of the founder effect in Finnish CADASIL families.
|
15378071 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
|
10371548 |
1999 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
|
10371548 |
1999 |
|
Cerebrovascular accident
|
|
0.030 |
GeneticVariation
|
BEFREE |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
|
21852154 |
2013 |
|
CADASIL Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
|
21852154 |
2013 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
|
21852154 |
2013 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
|
11102981 |
2000 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: NOTCH3. Disease: CADASIL.
|
15300988 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
|
15818833 |
2005 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
|
12810003 |
2003 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations.
|
23847153 |
2014 |
|
CADASIL Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Homozygosity of the NOTCH3 p.R544C has a modestly deleterious effect on the CADASIL phenotype.
|
23602593 |
2013 |