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302 results

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Page 1
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.
Richer J, Velchev JD, Goobie S, Boswell-Patterson CA, van de Laar IMBH, Verhagen JMA, Wessels MW, Roos-Hesselink JW, Luyckx I, Al-Amodi H, Chu MWA, Laberge AM, Sadikovic B, Balci T, Verstraeten A, Loeys B. Richer J, et al. Among authors: loeys b. J Med Genet. 2025 Jan 2:jmg-2024-110219. doi: 10.1136/jmg-2024-110219. Online ahead of print. J Med Genet. 2025. PMID: 39746778
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A, Somerville C, Arnaud P, Baudhuin LM, Hanna N, Kluge ML, Kotzer K, Boileau C, Bronicki L, Callewaert B, Cecchi A, Dietz H, Guo D, Harris S, Jarinova O, Lindsay M, Little L, Loeys B, MacCarrick G, Meester J, Milewicz D, Morisaki T, Morisaki H, Murdock D, Renard M, Richer J, Robert L, Ouzounian M, Van Laer L, De Backer J, Muiño-Mosquera L. Drackley A, et al. Among authors: loeys b. Genome Med. 2024 Dec 31;16(1):154. doi: 10.1186/s13073-024-01423-3. Genome Med. 2024. PMID: 39741318 Free PMC article.
Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.
Elliott P, Schunkert H, Bondue A, Behr E, Carrier L, Van Duijn C, García-Pavía P, van der Harst P, Kavousi M, Loeys B, Rocha Lopes L, Pinto Y, Di Toro A, Thum T, Kääb S, Urtis M, Arbustini E. Elliott P, et al. Among authors: loeys b. Eur Heart J. 2024 Dec 3:ehae747. doi: 10.1093/eurheartj/ehae747. Online ahead of print. Eur Heart J. 2024. PMID: 39673718
Key priorities for the implementation of the 2023 ESC Guidelines for the Management of Cardiomyopathies in low resource settings.
Jurcut R, Barriales-Villa R, Biagini E, Garcia-Pavia P, Olivotto I, Protonotarios A, Arbustini E, Mogensen J, Elliott P, Arbelo E, Pablo Kaski J; Members of the Task Force for the 2023 ESC Guidelines for the management of cardiomyopathies. Jurcut R, et al. Eur Heart J Qual Care Clin Outcomes. 2024 Dec 9:qcae103. doi: 10.1093/ehjqcco/qcae103. Online ahead of print. Eur Heart J Qual Care Clin Outcomes. 2024. PMID: 39657995
Loeys-Dietz Syndrome.
Loeys BL, Dietz HC. Loeys BL, et al. 2008 Feb 28 [updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Feb 28 [updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301312 Free Books & Documents. Review.
Circulating MicroRNA as Biomarkers of Anthracycline-Induced Cardiotoxicity: JACC: CardioOncology State-of-the-Art Review.
Boen HM, Cherubin M, Franssen C, Gevaert AB, Witvrouwen I, Bosman M, Guns PJ, Heidbuchel H, Loeys B, Alaerts M, Van Craenenbroeck EM. Boen HM, et al. Among authors: loeys b. JACC CardioOncol. 2024 Feb 27;6(2):183-199. doi: 10.1016/j.jaccao.2023.12.009. eCollection 2024 Apr. JACC CardioOncol. 2024. PMID: 38774014 Free PMC article. Review.
302 results