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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: oostra ba. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
Chasing genes in Alzheimer's and Parkinson's disease.
Bertoli-Avella AM, Oostra BA, Heutink P. Bertoli-Avella AM, et al. Among authors: oostra ba. Hum Genet. 2004 Apr;114(5):413-38. doi: 10.1007/s00439-004-1097-7. Epub 2004 Mar 4. Hum Genet. 2004. PMID: 14999561 Review.
Mutations in TITF-1 are associated with benign hereditary chorea.
Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Breedveld GJ, et al. Among authors: oostra ba. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878
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 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
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
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V. Quadri M, et al. Among authors: oostra ba. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341971 Free PMC article.
560 results