{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:49:17Z","timestamp":1788238157783,"version":"build-2803163510"},"reference-count":26,"publisher":"Akademiai Kiado Zrt.","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:p>Marfan syndrome is a genetic disorder of the connective tissue, which affects approximately 2000\u20133000 individuals in Hungary. Given its multi-systemic manifestations, this disorder is often difficult to diagnose. To date, the National Marfan Register system contains approximately 250 cases, and this number is dynamically increasing. Aims: Collection of data from biological samples, clinical parameters, and lifestyle factors in Hungarian patients with Marfan syndrome. Methods: In terms of the criteria used for selection, those cases were chosen where the disorder could be clearly diagnosed on the basis of the patients\u2019 cardiovascular and systemic symptoms, as well as of their family history, in line with the guidelines set by the Revised Ghent Nosology. Results: For the purposes of developing the biobank used for the research, 102 cases were selected from the Marfan Register (cDNA from 55 patients, genomic DNA and serum from 102 patients). In addition to the samples, data have been obtained by using internationally validated surveys to further examine the role of physical activity, nutrition and various psychological factors. Conclusions: The establishment of the Marfan Biobank enables scientists to effectively carry out research based on genetic, gene-expression and protein analysis. The biobank also provides new opportunities to study Hungarian patients with Marfan syndrome. Orv. Hetil., 2012, 153, 296\u2013302.<\/jats:p>","DOI":"10.1556\/oh.2012.29295","type":"journal-article","created":{"date-parts":[[2012,2,14]],"date-time":"2012-02-14T02:04:35Z","timestamp":1329185075000},"page":"296-302","source":"Crossref","is-referenced-by-count":5,"title":["The establishment of the Marfan syndrome biobank in Hungary"],"prefix":"10.1556","volume":"153","author":[{"given":"Annam\u00e1ria","family":"\u00c1gota","sequence":"first","affiliation":[{"name":"NAGY G\u00c9N Diagnosztikai \u00e9s Kutat\u00e1si Kft. 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