Pages that link to "Q34625197"
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The following pages link to MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease (Q34625197):
Displaying 50 items.
- Familial Mediterranean fever: current perspectives (Q26751292) (← links)
- The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome (Q28070297) (← links)
- Colchicine, Biologic Agents and More for the Treatment of Familial Mediterranean Fever. The Old, the New, and the Rare (Q34501889) (← links)
- Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study (Q35368763) (← links)
- Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling (Q36041225) (← links)
- Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients (Q36247836) (← links)
- The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach (Q36981046) (← links)
- Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation (Q37466515) (← links)
- Treating inflammation by blocking interleukin-1 in humans (Q37636664) (← links)
- Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management (Q37716794) (← links)
- Autoinflammatory diseases (AID). (Q38211160) (← links)
- Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever (Q38335115) (← links)
- The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders. (Q38586076) (← links)
- A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner (Q38773387) (← links)
- Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens (Q38843398) (← links)
- Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed (Q38881711) (← links)
- Approach to the patients with inadequate response to colchicine in familial Mediterranean fever (Q39019638) (← links)
- Lessons from characterization and treatment of the autoinflammatory syndromes (Q39025839) (← links)
- A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). (Q39031146) (← links)
- Role of genetics in familial Mediterranean fever (Q40070578) (← links)
- Evidence of digenic inheritance in autoinflammation-associated genes (Q40075988) (← links)
- Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration (Q40107240) (← links)
- Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. (Q40111903) (← links)
- Applications of reconstituted inflammasomes in a cell-free system to drug discovery and elucidation of the pathogenesis of autoinflammatory diseases. (Q47093501) (← links)
- Identification of a second binding site on the TRIM25 B30.2 domain. (Q47273478) (← links)
- New mosaic tiles in childhood hereditary autoinflammatory disorders (Q47589873) (← links)
- Familial Mediterranean fever. (Q51709650) (← links)
- New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). (Q52620831) (← links)
- [Familial Mediterranean fever]. (Q52662143) (← links)
- A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report. (Q52680970) (← links)
- A Novel Mobile App and Population Management System to Manage Rheumatoid Arthritis Flares: Protocol for a Randomized Controlled Trial. (Q55049407) (← links)
- Periodic fever syndromes (Q61657825) (← links)
- The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity (Q64039649) (← links)
- Dominant familial Mediterranean fever (Q89377753) (← links)
- Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France (Q89483371) (← links)
- Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases (Q89819649) (← links)
- Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages (Q90201446) (← links)
- ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era (Q90357007) (← links)
- Digital Tracking of Rheumatoid Arthritis Longitudinally (DIGITAL) Using Biosensor and Patient-Reported Outcome Data: Protocol for a Real-World Study (Q90413147) (← links)
- Update on the management of colchicine resistant Familial Mediterranean Fever (FMF) (Q90727834) (← links)
- Integrating transcriptome-wide association study and mRNA expression profiling identified candidate genes and pathways associated with osteomyelitis (Q90966374) (← links)
- How to prescribe a genetic test for the diagnosis of autoinflammatory diseases? (Q91147370) (← links)
- Autoinflammatory diseases: State of the art (Q91241023) (← links)
- Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant (Q91375544) (← links)
- Evaluation of hearing in pediatric familial Mediterranean fever patients during attack period and attack-free period (Q91456620) (← links)
- Current and future advances in genetic testing in systemic autoinflammatory diseases (Q91462029) (← links)
- Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study (Q91732053) (← links)
- Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever (Q91749687) (← links)
- Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: reply (Q92000953) (← links)
- British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature (Q92438760) (← links)