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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: de graaff e, de graaf bm. 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.
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
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. Among authors: de graaf bm, de krijger r, de groot de laat le. Hum Genet. 2008 Jan;122(6):595-603. doi: 10.1007/s00439-007-0436-x. Epub 2007 Oct 16. Hum Genet. 2008. PMID: 17938964
ROBO2 gene variants are associated with familial vesicoureteral reflux.
Bertoli-Avella AM, Conte ML, Punzo F, de Graaf BM, Lama G, La Manna A, Polito C, Grassia C, Nobili B, Rambaldi PF, Oostra BA, Perrotta S. Bertoli-Avella AM, et al. Among authors: de graaf bm. J Am Soc Nephrol. 2008 Apr;19(4):825-31. doi: 10.1681/ASN.2007060692. Epub 2008 Jan 30. J Am Soc Nephrol. 2008. PMID: 18235093 Free PMC article.
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Among authors: de graaf bm, de vries bb. Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594. Am J Med Genet A. 2009. PMID: 19161153
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: de paepe a, de graaf bm, de backer j. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
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. Among authors: de graaf bm. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
29 results