Results 181 to 190 of about 6,862 (214)

PRIMARY IMMUNE DEFICIENCY IN PATIENTS WITH MEFV GENE MUTATION

2023
References: Aguado J., Gómez-Inclán C.,  Leeson H. et al., The hallmarks of aging in Ataxia-Telangiectasia // Ageing Res Rev 2022 Aug;79:101653. doi: 10.1016/j.arr.2022.101653. Alibakhshi R., Mohammadi A., Ghadiri K., et al., Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review ...
Nasrullayeva G., Mollayeva N., Mammadova V., Namazova B.   +3 more
openaire   +1 more source

Prevalence and significance of MEFV gene mutations in patients with sarcoidosis

Scandinavian Journal of Rheumatology, 2015
Sarcoidosis is a chronic granulomatous disease. Pyrin has anti-inflammatory activity in the regulation of inflammasomes and is encoded by the Mediterranean fever (MEFV) gene. MEFV gene mutations trigger the inflammatory cascade and cause familial Mediterranean fever (FMF).
Kobak, S., Sever, F., Orman, M., Goksel, O., Goksel, T., Berdeli, A.   +5 more
openaire   +2 more sources

The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still’s disease

Rheumatology International, 2012
Adult onset Still's disease (ASD) is a systemic inflammatory disorder of unknown etiology. ASD is characterized by fever with unknown etiology, rash, arthritis, and involvement of several organ systems. FMF and TRAPS are two important autoinflammatory diseases which characterized with recurrent inflammatory attacks.
Ekmekci, Sema Sirma, Azakli, Hulya, YAZICI, AYTEN, ERBAĞ, Gokhan, Abaci, Neslihan, COŞAN, Fulya, Ustek, Duran, ÇEFLE, AYŞE, YILMAZER, Baris, Emrence, Zeliha   +9 more
openaire   +3 more sources

Amyloidosis of Familial Mediterranean Fever and theMEFVGene

Amyloid, 2000
(2000). Amyloidosis of Familial Mediterranean Fever and the MEFV Gene. Amyloid: Vol. 7, No. 4, pp. 289-293.
openaire   +2 more sources

Molecular analyses of MEFV gene mutation variants in Turkish population

Molecular Biology Reports
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent, caused by mutations in the MEFV gene. The aim of this study was to review the common genotype distributions of MEFV variants and mutations in the Turkish population and ...
Rahime Aksoy, Ebru Us, Darya Farhoomand Aksoy, Ebru Dumlupınar, Tahsin Murat Turgay   +4 more
openaire   +2 more sources

Increased frequency of MEFV gene mutations in patients with primary dysmenorrhea

Modern Rheumatology, 2012
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and polyserositis and an autosomal recessive inheritance mode. Up to 15 % of FMF patients are reported to experience perimenstrual attacks. Primary dysmenorrhea could be an incomplete abdominal attack, or patients with dysmenorrhea may have ...
Keskin, HL, Ceylan, GÜLAY, Avsar, AF, Uyanık, G, Dalgaci, AF, Altunoglu, A, Erten, ŞÜKRAN, Yazıcı, A   +7 more
openaire   +4 more sources

MEFV gene analysis in PFAPA

The Journal of Pediatrics, 2003
Cécile, Cazeneuve, David, Geneviève, Serge, Amselem, Véronique, Hentgen, Isabelle, Hau, Philippe, Reinert   +5 more
openaire   +2 more sources

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly  

Association of intermittent hydrarthrosis with MEFV gene mutations

Arthritis & Rheumatism, 2006
Juan D, Cañete, Juan I, Aróstegui, Rubén, Queiró, Raimon, Sanmartí, Javier, Ballina, Xavier, Bosch, Jordi, Yagüe   +6 more
openaire   +2 more sources