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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: van impel a, van laer l. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ. Baetens M, et al. Among authors: van laer l, van criekinge w, van de voorde h. Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20. Hum Mutat. 2011. PMID: 21542060
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. Among authors: van meer bl, van laer l, van der linde d. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
Marfan syndrome: from gene to therapy.
Bolar N, Van Laer L, Loeys BL. Bolar N, et al. Among authors: van laer l. Curr Opin Pediatr. 2012 Aug;24(4):498-504. doi: 10.1097/MOP.0b013e3283557d4c. Curr Opin Pediatr. 2012. PMID: 22705998 Review.
Genetics of sudden cardiac death in the young.
Saenen JB, Van Craenenbroeck EM, Proost D, Marchau F, Van Laer L, Vrints CJ, Loeys BL. Saenen JB, et al. Among authors: van craenenbroeck em, van laer l. Clin Genet. 2015 Aug;88(2):101-13. doi: 10.1111/cge.12519. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25307320 Review.
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.
Luyckx I, Proost D, Hendriks JMH, Saenen J, Van Craenenbroeck EM, Vermeulen T, Peeters N, Wuyts W, Rodrigus I, Verstraeten A, Van Laer L, Loeys BL. Luyckx I, et al. Among authors: van craenenbroeck em, van laer l. Clin Genet. 2017 Oct;92(4):444-446. doi: 10.1111/cge.13000. Epub 2017 Apr 12. Clin Genet. 2017. PMID: 28401540 No abstract available.
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.
172 results