https://m2.mtmt.hu/ eng 2026-04-30 04:07 JournalArticle 31642740 VALIDATED true Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, Budapest, 1097, Hungary Department of Pharmacology and Pharmacotherapy, Semmelweis University, Üllői út 26, Budapest, 1085, Hungary Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People With Rare Diseases, Wagistrasse 25, Schlieren, Zurich, 8952, Switzerland Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő u. 25-29, Budapest, 1083, Hungary Cited By :14 Export Date: 9 April 2024 Correspondence Address: Stengl, R.; Heart and Vascular Center, Városmajor u. 68, Hungary; email: rolandstengl01@gmail.com Chemicals/CAS: cysteine, 4371-52-2, 52-89-1, 52-90-4; Smad3 protein, 237417-78-6, 237417-96-8, 237418-00-7; transforming growth factor beta receptor 1; transforming growth factor beta receptor 2; Fibrillin-1; Fibrillins 0 false 2026-03-24T14:03:33.061+0000 2024-06-13T13:17:34.873+0000 2020-10-28T10:03:12.975+0000 true 10055096 Nagy Regina /api/admin/10055096 Admin Regina Nagy (SE_AOK_Városmajor_Kardiol_Szívseb_Admin5_NR, admin) true 10055096 2026-03-24T14:02:11.832+0000 2024-06-13T13:17:35.200+0000 true 10062062 Gere Tamásné /api/admin/10062062 Admin Tamásné Gere (SE_KK_Admin5_GT, admin) true 10062062 true false true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Article (Journal Article) 101 true 10000059 true 1 /api/category/1 Category Scientific true 1 Stengl, Roland true true /api/journal/10007208 REVIEWED ORPHANET JOURNAL OF RARE DISEASES 1750-1172 1750-1172 true false 10007208 false 10007208 true 1750-1172 1750-1172 Journal FOREIGN 15 1 290 290 13 2020 Funding 2038899 /api/funding/2038899 (NVKP-16-1-2016-0017 National Heart Program) Funder: NRDIO false true Funding 2038900 /api/funding/2038900 (UNKP-17-3-I-SE-31) false true Funding 2038901 /api/funding/2038901 (UNKP-18-3-I-SE-69) false true Funding 2038902 /api/funding/2038902 (UNKP-19-3-I-SE-54) false true Funding 2038903 /api/funding/2038903 (BO/00809/18/8) Funder: MTA false true true true 2020 true true true false true false GOLD 2026-03-24 true https://doi.org/10.1186/s13023-020-01569-4 33 0 33 29 4 33 33 33 31 33 33 29 29 29 4 0 33 29 33 29 0 7 7 Folyóiratcikk Journal Article 24 33 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2021 0 5 3 5 3 2022 0 4 4 4 4 2023 0 7 6 7 6 2024 0 6 6 6 6 2025 0 11 10 11 10 Q1 false false false false 2020-10-27T11:52:48.459+0000 Farmakológiai és Farmakoterápiás Intézet (SE / AOK / I); Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); Sportorvostan Tanszék (SE / AOK / K); Transzfúziológiai Tanszék (SE / AOK / K); Városmajori Szív- és Érgyógyászati Klinika (SE / AOK / K) 12 51 5 13 0 true Language 10002 /api/language/10002 English Angol English true 2 true PersonAuthorship 93881315 /api/authorship/93881315 Stengl, Roland ✉ [Stengl, Roland (Szív és érbetegségek), author] Cardiovascular Center (SU / FM / C) 1 0.07692308 true false true Author 10074675 /api/author/10074675 Roland Stengl (Szív és érbetegségek) Stengl Roland true true Stengl Roland true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 93881316 /api/authorship/93881316 Bors, András [Bors, András (Élettudományok-Bi...), author] 2 0.07692308 false false false Author 10048476 /api/author/10048476 András Bors (Élettudományok-Biológia) Bors András true 10048476 true Bors András true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 93881317 /api/authorship/93881317 Ágg, Bence [Ágg, Bence (Farmakológia), author] Department of Pharmacology and Pharmacotherapy (SU / FM / I); 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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. (2020) ORPHANET JOURNAL OF RARE DISEASES 1750-1172 1750-1172 15 1<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10074675"><a href="/gui2/?type=authors&mode=browse&sel=10074675" target="_blank">Stengl Roland ✉ (<span class="authorship-author-name">Stengl Roland</span> <span class="authorAux-mtmt"> Szív és érbetegségek</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>/Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048476"><a href="/gui2/?type=authors&mode=browse&sel=10048476" target="_blank">Bors András (<span class="authorship-author-name">Bors András</span> <span class="authorAux-mtmt"> Élettudományok-Biológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10057401"><a href="/gui2/?type=authors&mode=browse&sel=10057401" target="_blank">Ágg Bence (<span class="authorship-author-name">Ágg Bence</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="Instituties">I</span>/Department of Pharmacology and Pharmacotherapy; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10026455"><a href="/gui2/?type=authors&mode=browse&sel=10026455" target="_blank">Pólos Miklós (<span class="authorship-author-name">Pólos Miklós</span> <span class="authorAux-mtmt"> Orvostudományok</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>/Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Mátyás Gábor </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnár Mária Judit (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</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>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10052027"><a href="/gui2/?type=authors&mode=browse&sel=10052027" target="_blank">Fekete Bálint (<span class="authorship-author-name">Fekete Bálint András</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="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10059951"><a href="/gui2/?type=authors&mode=browse&sel=10059951" target="_blank">Csabán Dóra (<span class="authorship-author-name">Csabán Dóra</span> <span class="authorAux-mtmt"> biomérnök</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>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10036963"><a href="/gui2/?type=authors&mode=browse&sel=10036963" target="_blank">Andrikovics Hajnalka (<span class="authorship-author-name">Andrikovics Hajnalka</span> <span class="authorAux-mtmt"> orvostudomány</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>/Transzfúziológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002691"><a href="/gui2/?type=authors&mode=browse&sel=10002691" target="_blank">Merkely Béla (<span class="authorship-author-name">Merkely Béla Péter</span> <span class="authorAux-mtmt"> Kardiológia</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>/Cardiovascular Center; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Cardiovascular Center">Cardiovascular Center</span>/Faculty of Sports Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10013969"><a href="/gui2/?type=authors&mode=browse&sel=10013969" target="_blank">Radovits Tamás (<span class="authorship-author-name">Radovits Tamás</span> <span class="authorAux-mtmt"> kardiológia, érgyógyászat</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>/Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10026449"><a href="/gui2/?type=authors&mode=browse&sel=10026449" target="_blank">Szabolcs Zoltán^** (<span class="authorship-author-name">Szabolcs Zoltán</span> <span class="authorAux-mtmt"> Szívsebészet</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>/Cardiovascular Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048080"><a href="/gui2/?type=authors&mode=browse&sel=10048080" target="_blank">Benke Kálmán (<span class="authorship-author-name">Benke Kálmán</span> <span class="authorAux-mtmt"> Szívsebészet</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>/Cardiovascular Center</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31642740" target="_blank">Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement</a></div> <div> <span class="journal-title">ORPHANET JOURNAL OF RARE DISEASES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1750-1172">1750-1172</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1750-1172">1750-1172</a>)</span>: <span class="journal-volume">15</span> <span class="journal-issue">1</span> <span class="page"> Paper 290. 13 p. </span> <span class="year">(2020)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1186/s13023-020-01569-4" target="_blank" href="https://doi.org/10.1186/s13023-020-01569-4"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000581759500002" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000581759500002"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85092709991" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85092709991"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="33059708" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=33059708&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Pharmacology (medical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 33</span> | Independent citation: 29 | Self citation: 4 | Unknown citation: 0 | Number of citations in WoS: 33 | Number of citations in Scopus:&nbsp;31 | WoS/Scopus assigned:&nbsp;33 | Number of citations with DOI:&nbsp;33 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31642740&sort=publishedYear,desc&sort=title"> Number of cited publications: 7 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 31642740</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> National Heart Program(NVKP-16-1-2016-0017) Funder: NRDIO, (UNKP-17-3-I-SE-31), (UNKP-18-3-I-SE-69), (UNKP-19-3-I-SE-54), (BO/00809/18/8) Funder: MTA </div> <div class="lastModified">Last Modified: 2024.06.13. 15:17 Tamásné Gere (SE_KK_Admin5_GT, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</u>: Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, Budapest, 1097, Hungary ...</pre> </div></div>