Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation-Reference-Cited by-同舟云学术

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Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation

Published:2019-10 Issue:9 Volume:41 Page:812-816
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Moteki Yosuke,Akagawa Hiroyuki,Niimi Yasunari,Okada Yoshikazu,Kawamata Takakazu

Funder

JSPS KAKENHI

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Vascular anomalies classification: recommendations from the international society for the study of vascular anomalies;Wassef;Pediatrics,2015

2. The incidence of birthmarks in the neonate;Jacobs;Pediatrics,1976

3. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations;Eerola;Am J Hum Genet,2003

4. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation;Revencu;Hum Mutat,2013

5. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling;Amyere;Circulation,2017

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1. Shaping the brain vasculature in development and disease in the single-cell era;Nature Reviews Neuroscience;2023-03-20

2. Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms;PLOS ONE;2022-03-17

3. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants;Journal of Medical Genetics;2022-03-07

4. RhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis;Drug Discovery Today;2021-08

5. De novo intracranial arteriovenous malformation development after endovascular treatment for a pial arteriovenous fistula in capillary malformation-arteriovenous malformation syndrome;Interventional Neuroradiology;2020-07-07

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