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Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: de brouwer ap, de vries bb. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.
Mental status of females with an FMR1 gene full mutation.
de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF. de Vries BB, et al. Am J Hum Genet. 1996 May;58(5):1025-32. Am J Hum Genet. 1996. PMID: 8651263 Free PMC article.
Noninvasive test for fragile X syndrome, using hair root analysis.
Willemsen R, Anar B, De Diego Otero Y, de Vries BB, Hilhorst-Hofstee Y, Smits A, van Looveren E, Willems PJ, Galjaard H, Oostra BA. Willemsen R, et al. Among authors: de vries bb, de diego otero y. Am J Hum Genet. 1999 Jul;65(1):98-103. doi: 10.1086/302462. Am J Hum Genet. 1999. PMID: 10364521 Free PMC article.
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: de vries bb. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878
Low frequency of MECP2 mutations in mentally retarded males.
Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Among authors: de vries bb. Eur J Hum Genet. 2002 Aug;10(8):487-90. doi: 10.1038/sj.ejhg.5200836. Eur J Hum Genet. 2002. PMID: 12111644
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Vissers LE, et al. Among authors: de vries bb, de jong pj. Am J Hum Genet. 2003 Dec;73(6):1261-70. doi: 10.1086/379977. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628292 Free PMC article.
311 results