Associated Papers
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation.
Wang K et al.
Neurology, 2022
EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.
Zeng X et al.
Trends in Molecular Medicine, 2019
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL et al.
European Journal of Human Genetics : Ejhg, 2018
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
Lapinski PE et al.
European Journal of Medical Genetics, 2018
Comparison between two amplicon-based sequencing panels of different scales in the detection of somatic mutations associated with gastric cancer.
Hirotsu Y et al.
Bmc Genomics, 2016
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.
Martín-Santiago A et al.
The British Journal of Dermatology, 2015
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N et al.
Human Mutation, 2013
Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
Sánchez-Espino LF et al.
Pediatric Dermatology, 0
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