{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T02:03:53Z","timestamp":1776909833833,"version":"3.51.2"},"reference-count":61,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100009886","name":"Regione Puglia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009886","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005362","name":"Universita degli Studi di Bari Aldo Moro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005362","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejinme.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Internal Medicine"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.ejim.2023.05.015","type":"journal-article","created":{"date-parts":[[2023,5,13]],"date-time":"2023-05-13T00:55:06Z","timestamp":1683939306000},"page":"79-87","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy"],"prefix":"10.1016","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5476-7376","authenticated-orcid":false,"given":"Agostino","family":"Di Ciaula","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4253-4361","authenticated-orcid":false,"given":"Matteo","family":"Iacoviello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonilde","family":"Bonfrate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harshitha","family":"Shanmugam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Lopalco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Bagnulo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Garganese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florenzo","family":"Iannone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoletta","family":"Resta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5359-1471","authenticated-orcid":false,"given":"Piero","family":"Portincasa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9035-6267","authenticated-orcid":false,"given":"Alessandro","family":"Stella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejim.2023.05.015_bib0001","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1002\/art.24458","article-title":"Familial mediterranean fever in the world","volume":"61","author":"Ben-Chetrit","year":"2009","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.ejim.2023.05.015_bib0002","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/sj.ejhg.5200658","article-title":"The spectrum of Familial mediterranean fever (FMF) mutations","volume":"9","author":"Touitou","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0003","series-title":"Familial mediterranean fever rare diseases of the immune system","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-319-14615-7_5","article-title":"Epidemiology of FMF worldwide","author":"Cerrito","year":"2015"},{"key":"10.1016\/j.ejim.2023.05.015_bib0004","doi-asserted-by":"crossref","DOI":"10.1016\/j.semarthrit.2022.151957","article-title":"The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: results from a large international FMF cohort","volume":"52","author":"Bustaffa","year":"2022","journal-title":"Semin Arthritis Rheum"},{"key":"10.1016\/j.ejim.2023.05.015_bib0005","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1111\/eci.12783","article-title":"A novel cluster of patients with familial mediterranean fever (FMF) in southern Italy","volume":"47","author":"Bonfrate","year":"2017","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.ejim.2023.05.015_bib0006","doi-asserted-by":"crossref","unstructured":"Onen F. Familial Mediterranean fever. Rheumatol Int. 2006;26:489\u201396.","DOI":"10.1007\/s00296-005-0074-3"},{"key":"10.1016\/j.ejim.2023.05.015_bib0007","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng0997-25","article-title":"A candidate gene for familial mediterranean fever","volume":"17","author":"French","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0008","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/S0092-8674(00)80539-5","article-title":"Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium","volume":"90","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.ejim.2023.05.015_bib0009","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1002\/ajmg.1320340206","article-title":"Familial mediterranean fever in armenians: autosomal recessive inheritance with high gene frequency","volume":"34","author":"Rogers","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0010","doi-asserted-by":"crossref","first-page":"325","DOI":"10.12932\/AP0244.31.4.2013","article-title":"Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P\/E148Q\/M694I and an autosomal true dominant inheritance pattern","volume":"31","author":"Fukushima","year":"2013","journal-title":"Asian Pac J Allergy Immunol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0011","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1136\/annrheumdis-2012-202580","article-title":"MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease","volume":"73","author":"Stoffels","year":"2014","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.ejim.2023.05.015_bib0012","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.gene.2017.10.068","article-title":"Genotype-phenotype correlation in FMF patients: a \"non classic\" recessive autosomal or \"atypical\" dominant autosomal inheritance?","volume":"641","author":"Procopio","year":"2018","journal-title":"Gene"},{"key":"10.1016\/j.ejim.2023.05.015_bib0013","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/rheumatology\/key328","article-title":"Familial Mediterranean fever: breaking all the (genetic) rules","volume":"58","author":"Stella","year":"2019","journal-title":"Rheumatology"},{"key":"10.1016\/j.ejim.2023.05.015_bib0014","first-page":"554","article-title":"British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature","volume":"59","author":"Rowczenio","year":"2020","journal-title":"Rheumatology"},{"key":"10.1016\/j.ejim.2023.05.015_bib0015","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/sj.ejhg.5200776","article-title":"The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever","volume":"10","author":"Gershoni-Baruch","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0016","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s10528-018-9889-y","article-title":"Clinical and Demographic evaluation according to mefv genes in patients with familial mediterranean fever","volume":"57","author":"Sonmezgoz","year":"2019","journal-title":"Biochem Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0017","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.gene.2017.05.013","article-title":"MEFV mutations and their relation to major clinical symptoms of familial mediterranean fever","volume":"626","author":"Cekin","year":"2017","journal-title":"Gene"},{"key":"10.1016\/j.ejim.2023.05.015_bib0018","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/j.1469-1809.2008.00471.x","article-title":"The population genetics of familial mediterranean fever: a meta-analysis study","volume":"72","author":"Papadopoulos","year":"2008","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0019","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/cge.13070","article-title":"Genetic epidemiology of familial Mediterranean fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa","volume":"93","author":"Koshy","year":"2018","journal-title":"Clin Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0020","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1097\/BOR.0000000000000315","article-title":"Familial mediterranean fever","volume":"28","author":"Padeh","year":"2016","journal-title":"Curr Opin Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0021","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1136\/annrheumdis-2019-215048","article-title":"Classification criteria for autoinflammatory recurrent fevers","volume":"78","author":"Gattorno","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.ejim.2023.05.015_bib0022","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1136\/annrheumdis-2015-208671","article-title":"Development and initial validation of international severity scoring system for familial mediterranean fever (ISSF)","volume":"75","author":"Demirkaya","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.ejim.2023.05.015_bib0023","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/annrheumdis-2014-206844","article-title":"Evidence-based recommendations for genetic diagnosis of familial mediterranean fever","volume":"74","author":"Giancane","year":"2015","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.ejim.2023.05.015_bib0024","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/s41584-021-00614-1","article-title":"Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases","volume":"17","author":"Aksentijevich","year":"2021","journal-title":"Nat Rev Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0025","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1136\/ard.2008.092031","article-title":"Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease","volume":"68","author":"Ozen","year":"2009","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.ejim.2023.05.015_bib0026","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1097\/RHU.0b013e31829ce005","article-title":"Disease severity in adult patients of Turkish ancestry with familial mediterranean fever living in Germany or Turkey. Does the country of residence affect the course of the disease?","volume":"19","author":"Giese","year":"2013","journal-title":"J Clin Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0027","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/ahg.12493","article-title":"NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity","volume":"87","author":"Caldiran","year":"2023","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0028","doi-asserted-by":"crossref","DOI":"10.3390\/cancers14020365","article-title":"Beyond BRCA1\/2: homologous recombination repair genetic profile in a large cohort of apulian ovarian cancers","volume":"14","author":"Turchiano","year":"2022","journal-title":"Cancers"},{"key":"10.1016\/j.ejim.2023.05.015_bib0029","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/clinchem\/hvaa024","article-title":"ISSAID\/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era","volume":"66","author":"Shinar","year":"2020","journal-title":"Clin Chem"},{"key":"10.1016\/j.ejim.2023.05.015_bib0030","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1007\/s11033-014-3118-5","article-title":"Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey","volume":"41","author":"Oztuzcu","year":"2014","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejim.2023.05.015_bib0031","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<216::AID-AJMG20>3.0.CO;2-R","article-title":"Clinical differences between North African and Iraqi jews with familial mediterranean fever","volume":"75","author":"Pras","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0032","doi-asserted-by":"crossref","first-page":"429","DOI":"10.3899\/jrheum.180056","article-title":"An international delphi survey for the definition of new classification criteria for familial mediterranean fever, mevalonate kinase deficiency, tnf receptor-associated periodic fever syndromes, and cryopyrin-associated periodic Syndrome","volume":"46","author":"Federici","year":"2019","journal-title":"J Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0033","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1093\/rheumatology\/kez332","article-title":"Improvement of MEFV gene variants classification to aid treatment decision making in familial mediterranean fever","volume":"59","author":"Accetturo","year":"2020","journal-title":"Rheumatology"},{"key":"10.1016\/j.ejim.2023.05.015_bib0034","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1136\/annrheumdis-2019-216701","article-title":"Blood-based test for diagnosis and functional subtyping of familial mediterranean fever","volume":"79","author":"Van Gorp","year":"2020","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.ejim.2023.05.015_bib0035","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1186\/s13075-014-0439-7","article-title":"Genotype-phenotype correlation in japanese patients with familial mediterranean fever: differences in genotype and clinical features between japanese and mediterranean populations","volume":"16","author":"Kishida","year":"2014","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.ejim.2023.05.015_bib0036","doi-asserted-by":"crossref","first-page":"e15017","DOI":"10.1111\/ped.15017","article-title":"The analysis of genotype-phenotype correlation in familial mediterranean fever","volume":"64","author":"Ozturk","year":"2022","journal-title":"Pediatr Int"},{"key":"10.1016\/j.ejim.2023.05.015_bib0037","article-title":"Real-life data from the largest pediatric familial mediterranean fever cohort","volume":"9","author":"Ozturk","year":"2021","journal-title":"Front Pediatr"},{"key":"10.1016\/j.ejim.2023.05.015_bib0038","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1097\/MD.0000000000000029","article-title":"Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients","volume":"93","author":"Migita","year":"2014","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.ejim.2023.05.015_bib0039","doi-asserted-by":"crossref","first-page":"5447","DOI":"10.1093\/rheumatology\/keab128","article-title":"Clinical significance of E148Q heterozygous variant in paediatric familial mediterranean fever","volume":"60","author":"Tirosh","year":"2021","journal-title":"Rheumatology"},{"key":"10.1016\/j.ejim.2023.05.015_bib0040","article-title":"Molecular patterns of mefv gene mutations in egyptian patients with familial mediterranean fever: a retrospective cohort study","volume":"2019","author":"Mansour","year":"2019","journal-title":"Int J Inflam"},{"key":"10.1016\/j.ejim.2023.05.015_bib0041","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.ejim.2022.08.020","article-title":"Genetic testing in autoinflammatory diseases - past, current and future perspectives","volume":"106","author":"Le Goueff","year":"2022","journal-title":"Eur J Intern Med"},{"key":"10.1016\/j.ejim.2023.05.015_bib0042","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/s41590-020-0705-6","article-title":"Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis","volume":"21","author":"Park","year":"2020","journal-title":"Nat Immunol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0043","doi-asserted-by":"crossref","first-page":"2706","DOI":"10.1111\/1755-0998.13379","article-title":"Distinguishing between recent balancing selection and incomplete sweep using deep neural networks","volume":"21","author":"Isildak","year":"2021","journal-title":"Mol Ecol Resour"},{"key":"10.1016\/j.ejim.2023.05.015_bib0044","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1007\/s10067-021-06006-w","article-title":"Genotype-phenotype associations in familial mediterranean fever: a study of 500 Egyptian pediatric patients","volume":"41","author":"Beshlawy","year":"2022","journal-title":"Clin Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0045","doi-asserted-by":"crossref","first-page":"3219","DOI":"10.1007\/s10067-021-05652-4","article-title":"Evaluation of the international severity score for FMF (ISSF) scores in Turkish children diagnosed with FMF: a single-center experience","volume":"40","author":"Ozdemir","year":"2021","journal-title":"Clin Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0046","doi-asserted-by":"crossref","first-page":"e14678","DOI":"10.1111\/ijcp.14678","article-title":"Is the performance of the international severity scoring system for familial mediterranean fever in children better than other scoring systems?","volume":"75","author":"Ozcan","year":"2021","journal-title":"Int J Clin Pract"},{"key":"10.1016\/j.ejim.2023.05.015_bib0047","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1055\/s-0033-1355372","article-title":"Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study","volume":"225","author":"Jeske","year":"2013","journal-title":"Klin Padiatr"},{"key":"10.1016\/j.ejim.2023.05.015_bib0048","doi-asserted-by":"crossref","first-page":"422","DOI":"10.3899\/jrheum.090401","article-title":"Familial mediterranean fever in Ashkenazi jews: the mild end of the clinical spectrum","volume":"37","author":"Lidar","year":"2010","journal-title":"J Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0049","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10142-021-00819-3","article-title":"Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the national genetics consortium","volume":"22","author":"Dundar","year":"2022","journal-title":"Funct Integr Genomics"},{"key":"10.1016\/j.ejim.2023.05.015_bib0050","doi-asserted-by":"crossref","first-page":"33","DOI":"10.2478\/bjmg-2021-0017","article-title":"Aliyeva K. frequencies of the MEFV gene mutations in Azerbaijan","volume":"24","author":"Huseynova","year":"2021","journal-title":"Balkan J Med Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0051","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2022.146447","article-title":"MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods","volume":"827","author":"Kirnaz","year":"2022","journal-title":"Gene"},{"key":"10.1016\/j.ejim.2023.05.015_bib0052","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/s00296-021-04913-4","article-title":"Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype","volume":"42","author":"Sgouropoulou","year":"2022","journal-title":"Rheumatol Int"},{"key":"10.1016\/j.ejim.2023.05.015_bib0053","doi-asserted-by":"crossref","DOI":"10.3390\/jcm7050105","article-title":"The frequency of MEFV gene mutations and genotypes in Sanliurfa Province, South-Eastern region of Turkey, after the Syrian civil war by using next generation sequencing and report of a novel exon 4 mutation (I423T)","volume":"7","author":"Gumus","year":"2018","journal-title":"J Clin Med"},{"key":"10.1016\/j.ejim.2023.05.015_bib0054","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1007\/s10067-014-2602-6","article-title":"Clinical evaluation of R202Q alteration of MEFV genes in Turkish children","volume":"33","author":"Comak","year":"2014","journal-title":"Clin Rheumatol"},{"key":"10.1016\/j.ejim.2023.05.015_bib0055","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s00296-015-3329-7","article-title":"The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaras) of Turkey","volume":"36","author":"Kilinc","year":"2016","journal-title":"Rheumatol Int"},{"key":"10.1016\/j.ejim.2023.05.015_bib0056","doi-asserted-by":"crossref","first-page":"6193","DOI":"10.1007\/s11033-011-1437-3","article-title":"Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study","volume":"39","author":"Dogan","year":"2012","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejim.2023.05.015_bib0057","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s12969-016-0097-1","article-title":"Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation","volume":"14","author":"Milenkovic","year":"2016","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.ejim.2023.05.015_bib0058","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1007\/s11033-020-05277-x","article-title":"A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever","volume":"47","author":"Balta","year":"2020","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejim.2023.05.015_bib0059","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1111\/j.1399-0004.2007.00789.x","article-title":"MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever","volume":"71","author":"Giaglis","year":"2007","journal-title":"Clin Genet"},{"key":"10.1016\/j.ejim.2023.05.015_bib0060","first-page":"842","article-title":"The diverse face of familial mediterranean feber (FMF) in Greece: the importance of R202Q mutation of mediterranean fever (MEFV) gene","volume":"6","author":"Sagris","year":"2019","journal-title":"EJCRIM"},{"key":"10.1016\/j.ejim.2023.05.015_bib0061","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s10067-021-05906-1","article-title":"Clinical significance of MEFV gene variation R202Q","volume":"41","author":"Kandur","year":"2022","journal-title":"Clin Rheumatol"}],"container-title":["European Journal of Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0953620523001632?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0953620523001632?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T09:39:30Z","timestamp":1760607570000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0953620523001632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":61,"alternative-id":["S0953620523001632"],"URL":"https:\/\/doi.org\/10.1016\/j.ejim.2023.05.015","relation":{},"ISSN":["0953-6205"],"issn-type":[{"value":"0953-6205","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy","name":"articletitle","label":"Article Title"},{"value":"European Journal of Internal Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejim.2023.05.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}