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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: oostra ba. 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.
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: oostra ba. 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: oostra ba. 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.
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. Among authors: oostra ba. Eur Heart J. 2009 Oct;30(20):2485-92. doi: 10.1093/eurheartj/ehp271. Epub 2009 Jul 4. Eur Heart J. 2009. PMID: 19578166
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: oostra ba. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P. Galjaard RJ, et al. Among authors: oostra ba. Eur J Hum Genet. 2003 May;11(5):409-15. doi: 10.1038/sj.ejhg.5200982. Eur J Hum Genet. 2003. PMID: 12734547
A fragile balance: FMR1 expression levels.
Oostra BA, Willemsen R. Oostra BA, et al. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R249-57. doi: 10.1093/hmg/ddg298. Epub 2003 Sep 2. Hum Mol Genet. 2003. PMID: 12952862 Review.
560 results