| P50 | author | Tadashi Nariai | Q88322129 |
| | Tatsuya Ishikawa | Q90024603 |
| P2093 | author name string | Hidetoshi Kasuya | |
| | Taketoshi Maehara | |
| | Koji Yamaguchi | |
| | Yoshikazu Okada | |
| | Takakazu Kawamata | |
| | Hiroyuki Akagawa | |
| | Shunsuke Nomura | |
| | Akitsugu Kawashima | |
| | Maki Mukawa | |
| P2860 | cites work | Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl | Q68828961 |
| | Superior sagittal sinus thrombosis and thyrotoxicosis. Possible association in two cases | Q72622173 |
| | Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis) | Q84745917 |
| | Association of thyroid autoantibodies with moyamoya-type cerebrovascular disease: a prospective study | Q84933149 |
| | Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for moyamoya disease | Q87123847 |
| | Moyamoya disease concurrent with Graves' disease treated by direct bypass: clinical features and treatment strategies | Q87221077 |
| | An integrated map of genetic variation from 1,092 human genomes | Q22122153 |
| | Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development | Q24317590 |
| | Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering | Q24655574 |
| | Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 |
| | Hyperthyroidism | Q27690661 |
| | A new horizon of moyamoya disease and associated health risks explored through RNF213 | Q28080728 |
| | Pooled association tests for rare variants in exon-resequencing studies | Q28743126 |
| | A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 |
| | Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data | Q33359015 |
| | Moyamoya disease and moyamoya syndrome | Q33419606 |
| | A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. | Q34147943 |
| | Predicting the functional impact of protein mutations: application to cancer genomics | Q35224321 |
| | RNF213 rare variants in an ethnically diverse population with Moyamoya disease | Q35571989 |
| | RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients | Q36162869 |
| | A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project | Q36362149 |
| | Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians. | Q36411145 |
| | Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. | Q36479375 |
| | Moyamoya disease: current concepts and future perspectives | Q37305024 |
| | Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. | Q38417491 |
| | The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature | Q39073508 |
| | RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population | Q39286785 |
| | Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease. | Q39541172 |
| | An evaluation of statistical approaches to rare variant analysis in genetic association studies | Q39941009 |
| | Potential Association of Thyrotoxicosis with Vitamin B and Folate Deficiencies, Resulting in Risk for Hyperhomocysteinemia and Subsequent Thromboembolic Events | Q44619245 |
| | Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease. | Q47827513 |
| | Coexistence of moyamoya and Graves' diseases: the clinical characteristics and treatment effects of 21 Chinese patients | Q48115605 |
| | Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease | Q48484572 |
| | Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease | Q48835012 |
| | Cerebrovascular "moyamoya" disease. Disease showing abnormal net-like vessels in base of brain | Q49052312 |
| | Genetic Analysis of RNF213 c.14576G>A Variant in Nonatherosclerotic Quasi-Moyamoya Disease. | Q50574739 |
| | Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease. | Q52150400 |
| | Graves' disease. | Q54276950 |
| P921 | main subject | Moyamoya syndrome | Q55788342 |
| P304 | page(s) | e460-e466 | |
| P577 | publication date | 2019-03-25 | |
| P1433 | published in | World Neurosurgery | Q26853866 |
| P1476 | title | Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism | |
| P478 | volume | 127 | |