de Vries BBA - Search Results

1

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

Ruiter M, Koolen DA, Pfundt R, de Leeuw N, Klinkers HMJ, Sistermans EA, Veltman JA, de Vries BBA. Ruiter M, et al. Among authors: de vries bba, de leeuw n. Clin Dysmorphol. 2006 Jul;15(3):133-137. doi: 10.1097/01.mcd.0000220605.94413.bb. Clin Dysmorphol. 2006. PMID: 16760730

2

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, Sistermans E, Galjaard H, Oostra BA. Willemsen R, et al. Hum Genet. 1997 Mar;99(3):308-11. doi: 10.1007/s004390050363. Hum Genet. 1997. PMID: 9050914 Free article.

3

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. Clin Genet. 2002 May;61(5):359-62. doi: 10.1034/j.1399-0004.2002.610507.x. Clin Genet. 2002. PMID: 12081720

4

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

5

A new case of dup(3q) syndrome due to a pure duplication of 3qter.

Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. Faas BH, et al. Clin Genet. 2002 Oct;62(4):315-20. doi: 10.1034/j.1399-0004.2002.620411.x. Clin Genet. 2002. PMID: 12372060

6

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. Eur J Hum Genet. 2004 Jan;12(1):24-8. doi: 10.1038/sj.ejhg.5201080. Eur J Hum Genet. 2004. PMID: 14560307

7

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.

8

Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect.

Ruiter EM, Toorman J, Hochstenbach R, de Vries BBA. Ruiter EM, et al. Among authors: de vries bba. Clin Dysmorphol. 2004 Apr;13(2):99-102. Clin Dysmorphol. 2004. PMID: 15057126

9

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. 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.

10

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

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