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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
van der Donk R, Jansen S, Schuurs-Hoeijmakers JHM, Koolen DA, Goltstein LCMJ, Hoischen A, Brunner HG, Kemmeren P, Nellåker C, Vissers LELM, de Vries BBA, Hehir-Kwa JY. van der Donk R, et al. Among authors: de vries bba. Genet Med. 2019 Aug;21(8):1719-1725. doi: 10.1038/s41436-018-0404-y. Epub 2018 Dec 20. Genet Med. 2019. PMID: 30568311 Free PMC article.
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. Eur J Hum Genet. 2002 Aug;10(8):487-90. doi: 10.1038/sj.ejhg.5200836. Eur J Hum Genet. 2002. PMID: 12111644
Telomeres: a diagnosis at the end of the chromosomes.
De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. De Vries BB, et al. J Med Genet. 2003 Jun;40(6):385-98. doi: 10.1136/jmg.40.6.385. J Med Genet. 2003. PMID: 12807958 Free PMC article. Review.
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. 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.
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. Vissers LE, et al. Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8. Nat Genet. 2004. PMID: 15300250
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.
311 results