de Vries BB - Search Results

1

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. de Ligt J, et al. Among authors: de vries p, de vries bb. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. N Engl J Med. 2012. PMID: 23033978 Free article.

2

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: de vries bb. Clin Genet. 2002 May;61(5):359-62. doi: 10.1034/j.1399-0004.2002.610507.x. Clin Genet. 2002. PMID: 12081720

3

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

4

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

Kleefstra T, Yntema HG, Oudakker AR, de Vries BB, van Bokhoven H, Hamel BC, Poppelaars FA, Ausems MG. Kleefstra T, et al. Among authors: de vries bb. Am J Med Genet. 2002 Jul 15;110(4):410-1. doi: 10.1002/ajmg.10483. Am J Med Genet. 2002. PMID: 12116222 No abstract available.

5

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, van Bokhoven H, de Vries BB, Sistermans EA, Hamel BC. Kleefstra T, et al. Among authors: de vries bb. Eur J Hum Genet. 2004 Jan;12(1):24-8. doi: 10.1038/sj.ejhg.5201080. Eur J Hum Genet. 2004. PMID: 14560307

6

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.

7

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. Turner G, et al. Among authors: de vries bb. Clin Genet. 2004 Mar;65(3):226-32. doi: 10.1111/j.0009-9163.2004.00215.x. Clin Genet. 2004. PMID: 14756673

8

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

Koolen DA, Vissers LE, Nillesen W, Smeets D, van Ravenswaaij CM, Sistermans EA, Veltman JA, de Vries BB. Koolen DA, et al. Among authors: de vries bb. Clin Genet. 2004 May;65(5):429-32. doi: 10.1111/j.0009-9163.2004.00245.x. Clin Genet. 2004. PMID: 15099353 No abstract available.

9

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. Among authors: de vries bb, de jong pj. Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8. Nat Genet. 2004. PMID: 15300250

10

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: de vries bb. Clin Genet. 2004 Oct;66(4):318-26. doi: 10.1111/j.1399-0004.2004.00308.x. Clin Genet. 2004. PMID: 15355434

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