https://m2.mtmt.hu/ eng 2026-05-26 00:57 JournalArticle 35645194 VALIDATED true 0 false 2026-01-05T09:13:11.690+0000 2025-10-15T12:08:41.359+0000 2024-12-19T08:40:01.741+0000 true 10054424 Környei László /api/author/10054424 Author true 10054424 2026-01-05T09:09:12.541+0000 2026-01-05T09:09:12.541+0000 2025-10-15T12:08:41.367+0000 true 10022176 Laczik Cecilia /api/admin/10022176 Admin true 10022176 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 1134514 Survey paper true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/1134514 Összefoglaló cikk SubType 102 true 1134514 true 1 /api/category/1 Category true 1 Botos, Barnabás Péter RASopátiák diagnosztikai és terápiás eszköztára Diagnostic and therapeutic perspectives in RASopathies true false /api/journal/1131031 REVIEWED true true 1131031 true 1131031 true 0025-0244 2060-0399 Journal HUNGARIAN 68 4 313 323 313 11 2024 RASopathies are congenital diseases that manifest in childhood with symptoms and potential complications, typically associated with an elevated tumour predisposition risk. The heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal systems and skin, and modified growth pattern. From molecular perspective, the function of a key protein involved in Ras signalling is impaired, leading to disrupted regulation of cell growth and division. It is crucial to uncover genetic history, analyse tumour and cardiac involvement pattern along four generation pedigree and depict minor anomaly pattern. Upon clinical suspicion a stepwise approach to molecular testing is recommended to confirm or rule out the specific RASopathy. Post-test genetic counselling should address potential complications, developmental and follow-up strategies in line with current guidelines. Cascade pedigree segregation analysis according to the inheritance pattern should be offered to family planning parents and potentially affected family members. In case of certain specific organ involvement or complications, targeted therapeutics are available, highlighting the importance of early diagnosis. true true 2024 false false true false true false NONE 2026-01-05 false 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Q4 false 10053336 false false false 2025-01-01T09:29:33.511+0000 Gottsegen György Országos Kardiovaszkuláris Int...; Gyermekgyógyászati Klinika (SE / AOK / K); MTA-SE Lendület Molekuláris Onkohematológia Kut... (SE / AOK / I / ISZPKRI); Patológiai és Kísérleti Rákkutató Intézet (SE / AOK / I) 18 23 4 19 0 false Language 10001 /api/language/10001 Magyar Hungarian true 1 true PersonAuthorship 122389536 /api/authorship/122389536 1 0.053 true false false Author 10092067 /api/author/10092067 Botos Péter Barnabás true true Botos Barnabás Péter true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389537 /api/authorship/122389537 2 0.053 false false false Author 10092064 /api/author/10092064 Erhardt Júlia true true Erhardt Júlia true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389538 /api/authorship/122389538 3 0.053 false false false Author 10092061 /api/author/10092061 Jenei Sámuel true true Jenei Sámuel true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389539 /api/authorship/122389539 4 0.053 false false false Author 10092066 /api/author/10092066 Li Luca Kamilla true true Li Kamilla Luca true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389540 /api/authorship/122389540 5 0.053 false false false Author 10092063 /api/author/10092063 Kovács Sándor Dávid true true Kovács Dávid Sándor true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389541 /api/authorship/122389541 6 0.053 false false false Author 10072921 /api/author/10072921 Egyed Bálint true true Egyed Bálint true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389542 /api/authorship/122389542 7 0.053 false false false Author 10076889 /api/author/10076889 Beniczky Nikolett Jusztina true true Beniczky Jusztina Nikolett true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389543 /api/authorship/122389543 8 0.053 false false false Author 10023613 /api/author/10023613 Erdélyi Dániel true 10023613 true Erdélyi Dániel true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389544 /api/authorship/122389544 9 0.053 false false false Author 10023438 /api/author/10023438 Müller Judit DUPLUM true 10023438 true Müller Judit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389545 /api/authorship/122389545 10 0.053 false false false Author 10071746 /api/author/10071746 Brückner Edit true true Brückner Edit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389546 /api/authorship/122389546 11 0.053 false false false Author 10022998 /api/author/10022998 Csóka Monika true 10022998 true Csóka Monika true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389547 /api/authorship/122389547 12 0.05263158 false false false Szabó Andrea true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389548 /api/authorship/122389548 13 0.053 false false false Author 10054424 /api/author/10054424 Környei László true 10054424 true Környei László true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389549 /api/authorship/122389549 14 0.053 false false false Author 10065934 /api/author/10065934 Bertalan Rita true true Bertalan Rita true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389550 /api/authorship/122389550 15 0.053 false false false Author 10022153 /api/author/10022153 Kovács Gábor true 10022153 true Kovács Gábor true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389551 /api/authorship/122389551 16 0.053 false false false Author 10100690 /api/author/10100690 Vilmányi Csaba true true Vilmányi Csaba true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389552 /api/authorship/122389552 17 0.053 false false false Author 10000251 /api/author/10000251 Garami Miklós true 10000251 true Garami Miklós true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389553 /api/authorship/122389553 18 0.053 false false false Author 10025100 /api/author/10025100 Bödör Csaba true 10025100 true Bödör Csaba true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 122389554 /api/authorship/122389554 19 0.053 false true true Author 10053336 /api/author/10053336 Kovács Árpád Ferenc true 10053336 true Kovács Ferenc Árpád true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 28141239 /api/publicationidentifier/28141239 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 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/api/publicationsource/33 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Matarka Matarka https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=@@@ true true 33 true 3399820 https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=3399820 false true Classification 12306 /api/classification/12306 true true SjrRating 11484512 /api/sjrrating/11484512 2172 1.0 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2701 /api/classificationexternal/2701 true 2701 true Q4 DIRECT true true /api/publication/35645194 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10092067"><a href="/gui2/?type=authors&mode=browse&sel=10092067" target="_blank">Botos Barnabás Péter (<span class="authorship-author-name">Botos Péter Barnabás</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, gyermekonkológia és hematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10092064"><a href="/gui2/?type=authors&mode=browse&sel=10092064" target="_blank">Erhardt Júlia (<span class="authorship-author-name">Erhardt Júlia</span> <span class="authorAux-mtmt"> Immunológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10092061"><a href="/gui2/?type=authors&mode=browse&sel=10092061" target="_blank">Jenei Sámuel (<span class="authorship-author-name">Jenei Sámuel</span> <span class="authorAux-mtmt"> Farmakológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10092066"><a href="/gui2/?type=authors&mode=browse&sel=10092066" target="_blank">Li Kamilla Luca (<span class="authorship-author-name">Li Luca Kamilla</span> <span class="authorAux-mtmt"> Genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10092063"><a href="/gui2/?type=authors&mode=browse&sel=10092063" target="_blank">Kovács Dávid Sándor (<span class="authorship-author-name">Kovács Sándor Dávid</span> <span class="authorAux-mtmt"> genetika, immunológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10072921"><a href="/gui2/?type=authors&mode=browse&sel=10072921" target="_blank">Egyed Bálint (<span class="authorship-author-name">Egyed Bálint</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, hematológia, onkogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10076889"><a href="/gui2/?type=authors&mode=browse&sel=10076889" target="_blank">Beniczky Jusztina Nikolett (<span class="authorship-author-name">Beniczky Nikolett Jusztina</span> <span class="authorAux-mtmt"> gyermekgyógyászat, endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10023613"><a href="/gui2/?type=authors&mode=browse&sel=10023613" target="_blank">Erdélyi Dániel (<span class="authorship-author-name">Erdélyi Dániel</span> <span class="authorAux-mtmt"> Gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10023438"><a href="/gui2/?type=authors&mode=browse&sel=10023438" target="_blank">Müller Judit (<span class="authorship-author-name">Müller Judit</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, hematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10071746"><a href="/gui2/?type=authors&mode=browse&sel=10071746" target="_blank">Brückner Edit (<span class="authorship-author-name">Brückner Edit</span> <span class="authorAux-mtmt"> Gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10022998"><a href="/gui2/?type=authors&mode=browse&sel=10022998" target="_blank">Csóka Monika (<span class="authorship-author-name">Csóka Monika</span> <span class="authorAux-mtmt"> Gyermekgyógyászat hematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szabó Andrea </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054424"><a href="/gui2/?type=authors&mode=browse&sel=10054424" target="_blank">Környei László (<span class="authorship-author-name">Környei László</span> <span class="authorAux-mtmt"> gyermekkardiológia</span>) </a> </span> <span class="author-affil">Gottsegen National Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10065934"><a href="/gui2/?type=authors&mode=browse&sel=10065934" target="_blank">Bertalan Rita (<span class="authorship-author-name">Bertalan Rita</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10022153"><a href="/gui2/?type=authors&mode=browse&sel=10022153" target="_blank">Kovács Gábor (<span class="authorship-author-name">Kovács Gábor</span> <span class="authorAux-mtmt"> Gyermekgyógyászat; hematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10100690"><a href="/gui2/?type=authors&mode=browse&sel=10100690" target="_blank">Vilmányi Csaba (<span class="authorship-author-name">Vilmányi Csaba</span> <span class="authorAux-mtmt"> gyermekkardiológus</span>) </a> </span> <span class="author-affil">Gottsegen National Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000251"><a href="/gui2/?type=authors&mode=browse&sel=10000251" target="_blank">Garami Miklós (<span class="authorship-author-name">Garami Miklós</span> <span class="authorAux-mtmt"> Gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025100"><a href="/gui2/?type=authors&mode=browse&sel=10025100" target="_blank">Bödör Csaba (<span class="authorship-author-name">Bödör Csaba</span> <span class="authorAux-mtmt"> Molekuláris Onkohematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="I. Department of Pathology and experimental Cancer Research">IDPCR</span>/MTA-SE Lendület Molekuláris Onkohematológia Kutatócsoport; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10053336"><a href="/gui2/?type=authors&mode=browse&sel=10053336" target="_blank">Kovács Ferenc Árpád ✉ (<span class="authorship-author-name">Kovács Árpád Ferenc</span> <span class="authorAux-mtmt"> genetika, immunológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Pediatrics</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35645194" target="_blank">RASopátiák diagnosztikai és terápiás eszköztára</a></div> <div> <span class="journal-title">MAGYAR ONKOLÓGIA</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0025-0244">0025-0244</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2060-0399">2060-0399</a>)</span>: <span class="journal-volume">68</span> <span class="journal-issue">4</span> <span class="page"> pp 313-323 </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: Hungarian | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85212893147" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85212893147"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39657042" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39657042&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="http://huon.hu/2024/68/4/0313/0313a.pdf" target="_blank" href="http://huon.hu/2024/68/4/0313/0313a.pdf"> Full text </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="3399820" target="_blank" href="https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=3399820"> Matarka </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q4</div> <div class="journal-subject">Journal subject: Scopus - Oncology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q4</div> </div></OnlyViewableByAuthor> <div class="mtid"><span class="long-pub-mtid">Publication: 35645194</span> | <span class="status-data status-VALIDATED"> Validated </span> Core | <span class="type-subtype">Journal Article ( Survey paper ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Last Modified: 2025.10.15. 14:08 Cecilia Laczik (SE_AOK_1Patológia_Admin5_LC, admin) </div> </div></div>