Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further refinement of COL4A1 and COL4A2 related cortical malformations.
|
30315939 |
2018 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
|
24628545 |
2014 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
|
24628545 |
2014 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
CTD_human |
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
|
23225343 |
2013 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
|
23225343 |
2013 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
|
23394911 |
2013 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Childhood presentation of COL4A1 mutations.
|
22574627 |
2012 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
|
22134833 |
2011 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
|
21625620 |
2011 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Ophthalmological features associated with COL4A1 mutations.
|
20385946 |
2010 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
|
19477666 |
2010 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
|
19194877 |
2009 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
|
17379824 |
2007 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
|
17696175 |
2007 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
|
17938367 |
2007 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
|
16598045 |
2006 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
|
16107487 |
2006 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
|
15905400 |
2005 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Total pericardiectomy for uremic pericarditis.
|
607595 |
1977 |
Porencephaly, Type 1, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
CTD_human |
Total pericardiectomy for uremic pericarditis.
|
607595 |
1977 |
PORENCEPHALY, FAMILIAL
|
0.830 |
Biomarker
|
disease |
CTD_human |
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
|
23225343 |
2013 |
PORENCEPHALY, FAMILIAL
|
0.830 |
Biomarker
|
disease |
CTD_human |
Total pericardiectomy for uremic pericarditis.
|
607595 |
1977 |
PORENCEPHALY, FAMILIAL
|
0.830 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
|
0.820 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
|
23065703 |
2013 |