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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME; Baylor-Hopkins Center for Mendelian Genomics; MIBAVA Leducq Consortium; Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC. Gould RA, et al. Among authors: van laer l. Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. Epub 2018 Nov 19. Nat Genet. 2019. PMID: 30455415 Free PMC article.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Ajit Bolar N, et al. Among authors: van der aa n, van coster r, van laer l. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462291
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. Wischmeijer A, et al. Among authors: van laer l, van camp g. Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554019
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B. Van Laer L, et al. Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. Adv Exp Med Biol. 2014. PMID: 24443023 Review.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. Schepers D, et al. Among authors: van minkelen r, van laer l. Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736733 Free PMC article.
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Bertoli-Avella AM, et al. Among authors: van cappellen gwa, van der helm rm, van craenenbroeck em, van de laar imbh, van de beek g, van laer l. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. J Am Coll Cardiol. 2015. PMID: 25835445 Free PMC article.
171 results