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

Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.

Rheumatology (Oxford, England) - 1 Jan 2019

Nakaseko Haruna, Iwata Naomi, Izawa Kazushi, Shibata Hirofumi, Yasuoka Ryuhei, Kohagura Toaki, Abe Naoki, Kawabe Shinji, Nishikomori Ryuta

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Genetic Variation
Share to Hereditary Autoinflammatory Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30203097
DOI: 10.1093/rheumatology/key283

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.PMID 30203097Read ↗

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory diseaseSemantic proximity Read ↗

Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family.Semantic proximity Read ↗

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypesSemantic proximity Read ↗

A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like featuresSemantic proximity Read ↗

The infevers autoinflammatory mutation online registry: update with new genes and functions.Semantic proximity Read ↗

A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.Semantic proximity Read ↗

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations.Semantic proximity Read ↗

A genotype-first approach reveals the molecular basis of pyrin inflammasome activation.Semantic proximity Read ↗

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.Semantic proximity Read ↗

[The Cutting-edge of Medicine: Hereditary autoinflammatory diseases: diagnosis and management].Semantic proximity Read ↗

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraSemantic proximity Read ↗

Pyrin-associated autoinflammation with neutrophilic dermatosis: A case report.Semantic proximity Read ↗

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