Results 181 to 190 of about 14,042 (211)

R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever

European Journal of Internal Medicine
Apart from the classical phenotypes, familial Mediterranean fever (FMF) has several atypical manifestations making its diagnosis quite challenging. Our aim was to address the characteristics of FMF patients and the clinical importance of R202Q variant in a large cohort of patients from Greece.Prospectively collected data from 321 FMF patients were ...
Dimitrios Sagris, Christina Antoniadou, Nikolaos K. Gatselis, Efstratios Gavriilidis, Vasileios Papadopoulos, Sarah Georgiadou, Stella Gabeta, Victoria Tsironidou, Konstantinos P. Makaritsis, Panagiotis Skendros, Eirini I. Rigopoulou, Konstantinos Ritis, George N. Dalekos   +12 more
openaire   +2 more sources

Common Familial Mediterranean Fever gene mutations in a Turkish cohort

Molecular Biology Reports, 2010
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder with the responsible gene of MEFV which primarily affects Jewish, Armenian, Turkish and Arab populations. The FMF gene (MEFV) has recently been cloned to chromosome 16 p, which encodes pyrin.
DÜNDAR, Munis, BAŞKOL, Mevlüt, Kiraz, Aslıhan, Emirogullari, Elif Funda, TAHERİ, Serpil   +4 more
openaire   +4 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

ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity

Journal of Genetics, 2007
1CHU Toulouse, Hopital Purpan, Service de Genetique Medicale, Toulouse, F 31400, France 2INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F 31300 France 3Universite Toulouse III Paul-Sabatier, Toulouse F 31400 France 4Laboratoire de Genetique, Hopital Arnaud de Villeneuve, CHU de Montpellier, 34295 Montpellier, Cedex 5, France ...
Chassaing, N., Touitou, I., Cattan, D., Calvas, P.   +3 more
openaire   +3 more sources

Familial Mediterranean fever in Arab children: The high prevalence and gene frequency

European Journal of Pediatrics, 1996
Over a period of 3 years, 192 children with familial Mediterranean fever were prospectively studied. Of these, 106 (55%) were girls and 86 (45%) were boys. The prevalence was 1:2600 children with a gene frequency of 1:50. The age at onset ranged between 4 months and 16 years.
M O, Rawashdeh, H A, Majeed
openaire   +2 more sources

The Familial Mediterranean Fever Gene as a Modifier of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome

Seminars in Arthritis and Rheumatism, 2011
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome is a sporadic disease, characterized by periodic attacks of inflammation. Mutations in the MEFV, the gene associated with familial Mediterranean fever (FMF), may lead to subclinical inflammation in asymptomatic carriers and modify the phenotype of some inflammatory ...
Yackov, Berkun, Ran, Levy, Adam, Hurwitz, Michal, Meir-Harel, Merav, Lidar, Avi, Livneh, Shai, Padeh   +6 more
openaire   +2 more sources

Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13

American Journal of Medical Genetics, 1993
AbstractFamilial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disorder characterized by recurrent short spisodes of fever, peritonitis, arthritis, and pleuritis. Recently, linkage was demonstrated between FMF and the VNTR probes 3′HVR and 5′HVR of the α‐globin complex at 16p13.3 ( = 0.06−0.10, Lodmax = 9.76−14.47) and ...
N, Fischel-Ghodsian, X, Bu, T R, Prezant, S, Oeztas, Z S, Huang, M C, Bohlman, J I, Rotter, M, Shohat   +7 more
openaire   +2 more sources

Common Mediterranean Fever Gene Mutations in the Azeri Turkish Population of Iran

Genetic Testing and Molecular Biomarkers, 2010
Familial Mediterranean fever (FMF) is an autosomal recessive disorder primarily affecting the Mediterranean populations. It is characterized by recurrent attacks of fever and inflammation of serosal membranes and gradual development of nephropathic amyloidosis.
Mortaza, Bonyadi, Mohsen, Esmaeili, Abbas, Karimi, Saeed, Dastgiri   +3 more
openaire   +2 more sources

[From gene to disease; marenostrine and familial Mediterranean fever].

Nederlands tijdschrift voor geneeskunde, 2000
Familial mediterranean fever (FMF) is an autosomal recessive hereditary disorder associated with mutations in the gene on chromosome 16 encoding the protein pyrine (marenostrine). Marenostrine is thought to stimulate the production of an inactivator of a chemotactic factor (possibly C5a). The mutations result in ongoing inflammation, a hallmark of FMF.
M H, Breuning, E, Bakker
openaire   +1 more source

Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features

Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis, 2008
Semir Pasa, Abdullah Altintas
exaly