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Page 1
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, Wessels MW, Mancini GM. Oegema R, et al. Among authors: wessels mw. Mol Syndromol. 2010 Sep;1(3):113-120. doi: 10.1159/000320113. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031080 Free PMC article.
Three new families with arterial tortuosity syndrome.
Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Wessels MW, et al. Am J Med Genet A. 2004 Dec 1;131(2):134-43. doi: 10.1002/ajmg.a.30272. Am J Med Genet A. 2004. PMID: 15529317
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. Among authors: wessels mw. 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
5q11.2 deletion in a patient with tracheal agenesis.
de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A. de Jong EM, et al. Among authors: wessels mw. Eur J Hum Genet. 2010 Nov;18(11):1265-8. doi: 10.1038/ejhg.2010.84. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551993 Free PMC article.
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. Among authors: wessels mw. 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.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW. Verhagen JM, et al. Among authors: wessels mw. Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14. Am J Med Genet A. 2012. PMID: 22893440
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. Speksnijder L, et al. Among authors: wessels mw. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633388
101 results