Cargando…

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

BACKGROUND/AIM: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with...

Descripción completa

Detalles Bibliográficos
Autores principales:	SARI, Alper, BODAKÇİ, Erdal, ARMAĞAN, Berkan, SATIŞ, Hasan, ATAŞ, Nuh, YAŞAR BİLGE, Nazife Sule, BİLİCİ SALMAN, Reyhan, YARDIMCI, Gözde Kübra, BABAOĞLU, Hakan, KILIÇ, Levent, ÖZTÜRK, Mehmet Akif, HAZNEDAROĞLU, Şeminur, GÖKER, Berna, KALYONCU, Umut, KAŞİFOĞLU, Timuçin, TUFAN, Abdurrahman
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Scientific and Technological Research Council of Turkey 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8569734/ https://www.ncbi.nlm.nih.gov/pubmed/33726481 http://dx.doi.org/10.3906/sag-2011-273

Ejemplares similares

Appendectomy history is associated with severe disease and colchicine resistance in adult familial Mediterranean fever patients
por: BODAKÇİ, Erdal, et al.
Publicado: (2021)

Colchicine intolerance in FMF patients and primary obstacles for optimal dosing
por: SATIŞ, Hasan, et al.
Publicado: (2020)

Treatment with biologic DMARDs may not adversely affect lung nodules in rheumatoid arthritis patients
por: Karadeniz, Hazan, et al.
Publicado: (2022)

Serum ferritin as an activity marker for granulamotosis with polyangiitis
por: Kucuk, Hamit, et al.
Publicado: (2017)

Anti-interleukin-6 (tocilizumab) therapy in Takayasu’s arteritis: a real life experience
por: KILIÇ, Levent, et al.
Publicado: (2020)

An Unusual Case of Madelung's Disease with Multiple Atypical Fractures
por: Tufan, Abdurrahman, et al.
Publicado: (2012)

Minimally Invasive Minor Salivary Gland Biopsy for the Diagnosis of Amyloidosis in a Rheumatology Clinic
por: Mercan, Ridvan, et al.
Publicado: (2014)

Predictive value of neutrophil/lymphocyte ratio in renal prognosis of patients with granulomatosis with polyangiitis
por: Küçük, Hamit, et al.
Publicado: (2016)

A Challenging Diagnosis: A Case of Multisystem Inflammatory Syndrome Following COVID-19 Vaccination
por: Yıldırım, Reşit, et al.
Publicado: (2022)

Factors affecting patient-acceptable symptom states and treatment decision in familial Mediterranean fever
por: YILDIRIM, Derya, et al.
Publicado: (2022)

Minimal Change Disease and Primary Sjogren Syndrome Concurrence: Case-Based review
por: Şule Yaşar Bilge, Nazife, et al.
Publicado: (2022)

Frosted Branch Angiitis in a Patient with Familial Mediterranean Fever Diagnosis
por: Yıldırım, Reşit, et al.
Publicado: (2023)

Should our approach to diuretic using in patients with gout change?
por: Tecer, Duygu, et al.
Publicado: (2018)

Kinesiophobia and related factors in systemic lupus erythematosus patients
por: BAĞLAN YENTÜR, Songül, et al.
Publicado: (2019)

The DETAIL questionnaire is a useful and effective tool to assess spondyloarthritis in patients with inflammatory bowel disease
por: Keskin, Onur, et al.
Publicado: (2023)

Efficacy, retention, and safety of tofacitinib in real-life: Hur-bio monocentric experience
por: BİLGİN, Emre, et al.
Publicado: (2021)

The impact of antiphospholipid antibodies in Takayasu arteritis
por: FIRAT ŞENTÜRK, Esra, et al.
Publicado: (2022)

Starting of biological disease modifying antirheumatic drugs may be postponed in rheumatoid arthritis patients with multimorbidity: Single center real life results
por: Armagan, Berkan, et al.
Publicado: (2018)

Rituximab Therapy in Renal Amyloidosis Secondary to Rheumatoid Arthritis
por: Kilic, Levent, et al.
Publicado: (2018)

Aerobic exercise improves oxidant-antioxidant balance in patients with rheumatoid arthritis
por: Tuna, Zeynep, et al.
Publicado: (2015)

Abnormal retinal microvasculature found in active rheumatoid arthritis:a different perspective of microvascular health
por: BABAOĞLU, Hakan, et al.
Publicado: (2019)

Cognition, depression, fatigue, and quality of life in primary Sjögren's syndrome: correlations
por: Koçer, Belgin, et al.
Publicado: (2016)

A real-life analysis of patients with rheumatologic diseases on biological treatments: Data from TURKBIO Registry
por: Önen, Fatoş, et al.
Publicado: (2022)

The quality of physiotherapy and rehabilitation program and the effect of telerehabilitation on patients with knee osteoarthritis
por: Tore, Nurten Gizem, et al.
Publicado: (2022)

Degenerative and Inflammatory Osteoproliferations in Lumbar Radiographs in Psoriatic Arthritis Patients
por: Ayan, Gizem, et al.
Publicado: (2022)

Pulmonary hypertension in Behçet’s disease: echocardiographic screening and multidisciplinary approach
por: ARMAĞAN, Berkan, et al.
Publicado: (2023)

Exon 2: Is it the good police in familial mediterranean fever?
por: Bilge, Şule Yaşar, et al.
Publicado: (2019)

The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
por: YAŞAR BİLGE, N. Şule, et al.
Publicado: (2019)

Hematologic Malignancy Risk in Inflammatory Arthritis Patients Treated with TNF Inhibitors: The Real-Life Data from the HUR-BIO Registry
por: Duran, Emine, et al.
Publicado: (2023)

Validity and reliability of medication adherence scale in FMF (adult version)
por: Fidanci, Berna Eren, et al.
Publicado: (2014)

Prognostic value of interleukin-18 and its association with other inflammatory markers and disease severity in COVID-19
por: Satış, Hasan, et al.
Publicado: (2021)

Mortality in psoriatic arthritis patients, changes over time, and the impact of COVID-19: results from a multicenter Psoriatic Arthritis Registry (PsART-ID)
por: Erden, Abdulsamet, et al.
Publicado: (2023)

Quality of life, disease activity and preferences for administration routes in rheumatoid arthritis: a multicentre, prospective, observational study
por: Direskeneli, Haner, et al.
Publicado: (2022)

Increased psoriasis frequency in patients with familial Mediterranean fever
por: Erden, Abdulsamet, et al.
Publicado: (2018)

Decreased exercise capacity, strength, physical activity level and quality of life in adult patients with familial Mediterranean fever
por: TORE, Nurten Gizem, et al.
Publicado: (2021)

COVID-19 Among Patients With Inflammatory Rheumatic Diseases
por: Esatoglu, Sinem Nihal, et al.
Publicado: (2021)

Investigation of the value of hematological biomarkers in the clinical differential diagnosis of IgG4-RD
por: KARADENİZ, Hazan, et al.
Publicado: (2023)

Behçet Disease With Vascular Involvement: Effects of Different Therapeutic Regimens on the Incidence of New Relapses
por: Alibaz-Oner, Fatma, et al.
Publicado: (2015)

The Comorbidity of Reduplicative Paramnesia, Intermetamorphosis, Reverse-Intermetamorphosis, Misidentification of Reflection, and Capgras Syndrome in an Adolescent Patient
por: Arısoy, Ozden, et al.
Publicado: (2014)

Evaluation of Asymptomatic Bacteriuria and Urinary Tract Infection in Patients With Primary Sjögren’s Syndrome
por: ÇETİN, Zeynep, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_rd0e00d9splpnci2iglb1i2ohq