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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
Gene finding in genetically isolated populations.
Heutink P, Oostra BA. Heutink P, et al. Among authors: oostra ba. Hum Mol Genet. 2002 Oct 1;11(20):2507-15. doi: 10.1093/hmg/11.20.2507. Hum Mol Genet. 2002. PMID: 12351587 Review.
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Bonifati V, et al. Among authors: oostra ba. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21. Science. 2003. PMID: 12446870
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
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.
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.
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