{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T11:45:05Z","timestamp":1698493505727},"reference-count":54,"publisher":"Akademiai Kiado Zrt.","issue":"51","license":[{"start":{"date-parts":[[2022,12,18]],"date-time":"2022-12-18T00:00:00Z","timestamp":1671321600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,12,18]]},"abstract":"<jats:p>Az 1-es t\u00edpus\u00fa neurofibromatosis autoszom\u00e1lis domin\u00e1ns \u00f6r\u00f6kl\u00e9smenetet mutat\u00f3,\n                    klinikailag rendk\u00edv\u00fcl heterog\u00e9n neurocutan k\u00f3rk\u00e9p, amelynek kialakul\u00e1s\u00e1ban\n                    els\u0151dlegesen az <jats:italic>NF1-<\/jats:italic>g\u00e9n intragenikus funkci\u00f3veszt\u00e9ses mut\u00e1ci\u00f3i\n                    j\u00e1tszanak szerepet. Ugyanakkor a molekul\u00e1ris diagnosztika fejl\u0151d\u00e9s\u00e9nek\n                    k\u00f6sz\u00f6nhet\u0151en egyre t\u00f6bb esetben siker\u00fcl kimutatni az <jats:italic>NF1-<\/jats:italic>g\u00e9nt\n                    \u00e9s az azzal szomsz\u00e9dos r\u00e9gi\u00f3kat \u00e9rint\u0151 k\u00f3piasz\u00e1mbeli vari\u00e1nsokat.\n                    Genot\u00edpus-fenot\u00edpus elemz\u00e9sek alapj\u00e1n a pontmut\u00e1ci\u00f3s elt\u00e9r\u00e9sek okozta 1-es\n                    t\u00edpus\u00fa neurofibromatosis, illetve a microdeleti\u00f3s elt\u00e9r\u00e9sek okozta, \u00fan. 17q11.2\n                    microdeleti\u00f3s szindr\u00f3ma elk\u00fcl\u00f6n\u00edthet\u0151k egym\u00e1st\u00f3l. Microdeleti\u00f3k az esetek\n                    5\u201310%-\u00e1ban figyelhet\u0151k meg, melyek m\u00e9ret\u00fck, t\u00f6r\u00e9spontjaik genomi lokaliz\u00e1ci\u00f3ja\n                    \u00e9s \u00e9rintett g\u00e9ntartalmuk alapj\u00e1n n\u00e9gy k\u00fcl\u00f6nb\u00f6z\u0151 t\u00edpusba (1-es, 2-es, 3-as \u00e9s\n                    at\u00edpusos) sorolhat\u00f3k. A microdeleti\u00f3s betegek gyakran s\u00falyosabb k\u00f3rlefoly\u00e1st\n                    mutatnak, melyb\u0151l kiemelend\u0151 a malignit\u00e1sok emelkedett kock\u00e1zata. Az\n                    \u00f6sszefoglal\u00f3 k\u00f6zlem\u00e9nnyel, mely a neurofibromatosis-1 microdeleti\u00f3s szindr\u00f3ma\n                    f\u0151bb jellemz\u0151it, molekul\u00e1ris genetikai h\u00e1tter\u00e9t \u00e9s vizsg\u00e1lati m\u00f3dszereit\n                    t\u00e1rgyalja, a microdeleti\u00f3s szindr\u00f3m\u00e1s betegek korai diagn\u00f3zishoz jut\u00e1s\u00e1nak\n                    fontoss\u00e1g\u00e1t szeretn\u00e9nk hangs\u00falyozni \u00e9s felh\u00edvni a figyelmet a szoros nyomon\n                    k\u00f6vet\u00e9s jelent\u0151s\u00e9g\u00e9re. Orv Hetil. 2022; 163(51): 2041\u20132051.<\/jats:p>","DOI":"10.1556\/650.2022.32673","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T10:18:51Z","timestamp":1671617931000},"page":"2041-2051","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["Neurofibromatosis-1 microdeleti\u00f3s szindr\u00f3ma."],"prefix":"10.1556","volume":"163","author":[{"given":"Gergely","family":"B\u00fcki","sequence":"first","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs, Szigeti \u00fat 12., 7624 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Till","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs, Szigeti \u00fat 12., 7624 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Zsigmond","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs, Szigeti \u00fat 12., 7624 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Bene","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs, Szigeti \u00fat 12., 7624 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs, Szigeti \u00fat 12., 7624 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1001\/archderm.141.1.71","article-title":"Prevalence of neurofibromatosis 1 in German children at elementary school enrollment","volume":"141","author":"1 Lammert","year":"2005","unstructured":"1 Lammert M, Friedman JM, Kluwe L, et al. 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