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Page 1
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Massadeh S, Alhashem A, van de Laar IMBH, Alhabshan F, Ordonez N, Alawbathani S, Khan S, Kabbani MS, Chaikhouni F, Sheereen A, Almohammed I, Alghamdi B, Frohn-Mulder I, Ahmad S, Beetz C, Bauer P, Wessels MW, Alaamery M, Bertoli-Avella AM. Massadeh S, et al. Clin Genet. 2020 Jul;98(1):56-63. doi: 10.1111/cge.13760. Epub 2020 May 19. Clin Genet. 2020. PMID: 32323311
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Hum Genet. 2008 Jan;122(6):595-603. doi: 10.1007/s00439-007-0436-x. Epub 2007 Oct 16. Hum Genet. 2008. PMID: 17938964
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM. Verkerk AJ, et al. Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25. Am J Hum Genet. 2009. PMID: 19559397 Free PMC article.
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
van de Laar I, Wessels M, Frohn-Mulder I, Dalinghaus M, de Graaf B, van Tienhoven M, van der Moer P, Husen-Ebbinge M, Lequin M, Dooijes D, de Krijger R, Oostra BA, Bertoli-Avella AM. van de Laar I, et al. Eur Heart J. 2009 Oct;30(20):2485-92. doi: 10.1093/eurheartj/ehp271. Epub 2009 Jul 4. Eur Heart J. 2009. PMID: 19578166
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
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
NPHP4 variants are associated with pleiotropic heart malformations.
French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM. French VM, et al. Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1. Circ Res. 2012. PMID: 22550138 Free PMC article.
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.
119 results