rs121913529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We detected activating BRAF mutations and two novel mutations in KRAS (p.G12A and p.S65_A66insDS) in CNS arteriovenous malformations for the first time.
|
30544177 |
2019 |
rs121913529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
KRAS G12D or G12V Mutation in Human Brain Arteriovenous Malformations.
|
30902772 |
2019 |
rs11545664
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We hypothesized that the ACVRL1 c.314-35A>G and ENG c.207G>A polymorphisms, previously associated with sporadic brain AVM, are associated with organ VM in HHT.
|
25847705 |
2015 |
rs201393380
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We hypothesized that the ACVRL1 c.314-35A>G and ENG c.207G>A polymorphisms, previously associated with sporadic brain AVM, are associated with organ VM in HHT.
|
25847705 |
2015 |
rs11545664
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The association between ENG 207G>A polymorphism and brain arteriovenous malformation rupture and surgery outcome was analyzed using logistic regression analysis in 256 ruptured and 157 unruptured patients.
|
24876084 |
2014 |
rs201393380
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The association between ENG 207G>A polymorphism and brain arteriovenous malformation rupture and surgery outcome was analyzed using logistic regression analysis in 256 ruptured and 157 unruptured patients.
|
24876084 |
2014 |
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report.
|
31759151 |
2020 |
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report.
|
31759151 |
2020 |
rs121913530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also demonstrate the first reported instance of a KRAS p.G12C mutation in a brain AVM.
|
31026472 |
2019 |
rs897009059
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We detected activating BRAF mutations and two novel mutations in KRAS (p.G12A and p.S65_A66insDS) in CNS arteriovenous malformations for the first time.
|
30544177 |
2019 |
rs10486391
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs1143627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs11672433
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs1800795
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs2936018
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs314308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs361525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525).
|
29932521 |
2018 |
rs443198
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association between rs443198_TT and AVM bleeding remained significant in the multivariate regression analysis.
|
27231971 |
2017 |
rs7865618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between polymorphisms rs1333040 and rs7865618 of chromosome 9p21 and sporadic brain arteriovenous malformations.
|
24820060 |
2014 |
rs1333040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between the rs1333040 polymorphism on the chromosomal 9p21 locus and sporadic brain arteriovenous malformations.
|
23606732 |
2013 |
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Val66Met polymorphism is associated with worsened surgical outcome in patients with unruptured brain arteriovenous malformation, a group that currently has no good risk predictors.
|
22773554 |
2012 |
rs759834365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Val66Met polymorphism is associated with worsened surgical outcome in patients with unruptured brain arteriovenous malformation, a group that currently has no good risk predictors.
|
22773554 |
2012 |
rs9509
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations.
|
22796276 |
2012 |
rs522616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population.
|
20822909 |
2010 |
rs121909224
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X.
|
10749983 |
2000 |