Results 191 to 200 of about 1,294,883 (245)

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis

European Journal of Paediatric Neurology, 2018
To investigate frequency and phenotype of TNFRSF1A and MEFV mutations in childhood-onset multiple sclerosis (MS). Twenty-nine clinically well characterized patients were investigated for mutations in exons 2, 3, 4, and 6 of the TNFRSF1A gene and in exons 2, 3, 9, 10 of the MEFV gene.
Astrid, Blaschek, Rüdiger, V Kries, Peter, Lohse, Kristina, Huss, Katharina, Vill, Bernd H, Belohradsky, Florian, Heinen, Wolfgang, Müller-Felber, Tania, Kümpfel   +8 more
openaire   +2 more sources

PAPA‐like syndrome with heterozygous mutation in the MEFV gene

Clincal and Experimental Dermatology, 2021
A patient presented with a history of recurrent pyoderma gangrenosum, arthritis and extensive acne, prompting a genetic workup for PAPA syndrome. An MEFV mutation was identified and a change in therapeutic strategy from anakinra to colchicine was ...
C. O’Connor, L. Kiely, C. Heffron, J. Ryan, M. Bennett   +4 more
semanticscholar   +1 more source

MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA

Rheumatology International, 2009
PFAPA is a periodic fever disease, of unknown etiology, characterized by aphthous stomatitis, pharyngitis and cervical adenitis. To inquire whether genes implicated in other auto-inflammatory diseases might be involved in its pathogenesis, predominant mutations in the genes causing familial Mediterranean fever, TNF receptor-associated periodic fever ...
Efrat, Dagan, Ruth, Gershoni-Baruch, Ihab, Khatib, Adi, Mori, Riva, Brik   +4 more
openaire   +2 more sources

Are carriers for MEFV mutations "healthy"?

Clinical and experimental rheumatology, 2006
We aimed to compare whether carriers for the MEFV mutations display an increase or decrease in certain features. We compared the frequency of a number of inflammatory symptoms and diseases in carriers and a control population.A questionnaire was designed to be applied to parents of children with FMF and a control group of parents. Clinical features and
KASAPÇOPUR, Özgür, Ozen, S., Cakar, N., Yalcinkaya, F., Kalyoncu, M., Bakkaloglu, A., Ozturk, S., Dereli, E., Tunca, M., Acar, B. C.   +9 more
openaire   +2 more sources

PAPASH syndrome with MEFV gene mutation

Medicina Clínica (English Edition), 2021
Juan, Monte Serrano, Sonia, de la Fuente Meira, Joana, Cruañes Monferrer, Miguel Fernando, García-Gil   +3 more
openaire   +2 more sources

Recurrent pain attacks during romiplostim treatment in a patient with ITP carrying a heterozygous MEFV mutation

International journal of hematology, 2022
Shiori Kinoshita, H. Komatsu, Haruna Fujinami, Takashi Yoshida, Tomotaka Suzuki, T. Narita, A. Ito, M. Ri, S. Kusumoto, S. Iida   +9 more
semanticscholar   +1 more source

MEFV gene mutation detection in Arab patients

Qatar Foundation Annual Research Forum Volume 2013 Issue 1, 2013
MEFV Gene Mutation Detection In Arabic Patients With Familial Mediterranean Fever Rowaida Taha1, Suheil Ayesh2, Abdulghani Kohilan1, Vasiliki Chini1, Marios Kambouris 1,3, Hatem El-Shanti 1,4 1Shafallah Medical Genetics Center, Doha, Qatar, 2Gene Medical Labs, Gaza, Palestinian Territory, 3Yale University School of Medicine, Genetics, New Haven CT, USA,
openaire   +1 more source

MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

European Journal of Pediatrics, 2013
Mutations of the Mediterranean fever (MEFV) gene, which encodes pyrin protein, leads to familial Mediterranean fever (FMF) and a connection between MEFV mutations and rheumatic diseases has been suggested. The aim of this study was to explore the frequency and clinical significance of MEFV mutations in children with juvenile idiopathic arthritis (JIA).
Elif, Comak, Cagla Serpil, Dogan, Sema, Akman, Mustafa, Koyun, Arife Uslu, Gokceoglu, Ibrahim, Keser   +5 more
openaire   +2 more sources

MEFV mutations in Japanese rheumatoid arthritis patients.

Clinical and experimental rheumatology, 2009
Familiar Mediterranean Fever (FMF) is common among Mediterranean populations, while other populations are rarely affected. The aim of this study was to assess the involvement of MEFV gene mutations among Japanese rheumatoid arthritis patients with or without amyloid A (AA) amyloidosis.The frequency of the MEFV mutations, which were identified in ...
K, Migita, T, Nakamura, Y, Maeda, T, Miyashita, T, Koga, M, Tanaka, M, Nakamura, A, Komori, H, Ishibashi, T, Origuchi, H, Ida, E, Kawasaki, M, Yasunami, K, Eguchi   +13 more
openaire   +1 more source

Common MEFV gene mutations in Turkish patients with Behcet's disease

Gene, 2013
Behcet's disease (BD) is a chronic systemic inflammatory disorder whose etiology has not been fully established yet. The MEditerranean FeVer (MEFV) gene has been identified as the cause of Familial Mediterranean Fever (FMF). BD shows similarities with FMF, in terms of clinical findings and treatments, as well as their geographical and ethnic co ...
Turker, Tasliyurt, Serbulent, Yigit, Aydin, Rustemoglu, Ulker, Gul, Omer, Ates   +4 more
openaire   +2 more sources