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Page 1
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC. Demirdas S, et al. Among authors: hilhorst hofstee y. Circ Genom Precis Med. 2024 Apr 16:e003978. doi: 10.1161/CIRCGEN.122.003978. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38623759 Free article.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: hilhorst hofstee y. Genet Med. 2022 Oct;24(10):2112-2122. doi: 10.1016/j.gim.2022.07.009. Epub 2022 Sep 2. Genet Med. 2022. PMID: 36053285 Free article.
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P, Pals G, Zwinderman AH, Postema FAM, Baars MJH, Dulfer E, Hilhorst-Hofstee Y, Houweling AC, Kempers M, Krapels IPC, van de Laar IMBH, Loeys B, Spaans AMJ, Warnink-Kavelaars J, de Waard V, Wit JM, Menke LA. Lauffer P, et al. Among authors: hilhorst hofstee y. Am J Med Genet A. 2023 Feb;191(2):479-489. doi: 10.1002/ajmg.a.63047. Epub 2022 Nov 15. Am J Med Genet A. 2023. PMID: 36380655 Free PMC article.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: hilhorst hofstee y. Genet Med. 2024 Feb;26(2):101024. doi: 10.1016/j.gim.2023.101024. Epub 2023 Dec 11. Genet Med. 2024. PMID: 38085215 Free article. No abstract available.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P. Marsili L, et al. Among authors: hilhorst hofstee y. Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31898322
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Verhagen JMA, et al. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. Int J Cardiol. 2018. PMID: 29452988 Free article. Review.
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, van den Meiracker AH, Moelker A, van Kooten F, Frohn-Mulder IM, Timmermans J, Moltzer E, Cobben JM, van Laer L, Loeys B, De Backer J, Coucke PJ, De Paepe A, Hilhorst-Hofstee Y, Wessels MW, Roos-Hesselink JW. van der Linde D, et al. J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. doi: 10.1016/j.jacc.2011.12.052. Epub 2012 May 23. J Am Coll Cardiol. 2012. PMID: 22633655 Free article.
63 results