Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease

1 Jan 2019

Abstract excerpt

BACKGROUND: Homozygosity of this p.R4810K founder variant of RNF213moyamoya disease (MMD) susceptibility gene is known to influence the severity of the clinical disease phenotype at disease onset. However, the association between this genotype and long-term clinical manifestations has remained unclear. OBJECTIVES: The principal goal of this study was to investigate whether and how the p.R4810K variant of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Connective tissue disorders research
Share to Glycogen Storage Diseases and Myoclonus
Share to Moyamoya disease diagnosis and treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30947170
DOI: 10.1159/000499699

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya DiseasePMID 30947170Read ↗

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.Semantic proximity Read ↗

The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease.Semantic proximity Read ↗

Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.Semantic proximity Read ↗

Validation and Extension Study Exploring the Role of RNF213 p.R4810K in 2,877 Chinese Moyamoya Disease Patients.Semantic proximity Read ↗

Meta-analysis of genotype and phenotype studies to confirm the predictive role of the RNF213 p.R4810K variant for moyamoya disease.Semantic proximity Read ↗

RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.Semantic proximity Read ↗

Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.Semantic proximity Read ↗

Arg4810Lys Mutation in<i>RNF213</i>among Eastern Indian Non-MMD Ischemic Stroke Patients: A Genotype-Phenotype CorrelationSemantic proximity Read ↗

Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.Semantic proximity Read ↗

RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events.Semantic proximity Read ↗

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease.Semantic proximity Read ↗

Clinical and Genetic Risk Factors of Long-Term Outcomes after Encephaloduroarteriosynangiosis in Moyamoya Disease in China.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.