Koolen DA - 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: koolen da. 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

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.

3

Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization.

Koolen DA, Veltman JA, Renier WO, Droog RP, van Kessel AG, de Vries BB. Koolen DA, et al. Am J Med Genet A. 2004 Dec 15;131(3):322-4. doi: 10.1002/ajmg.a.30377. Am J Med Genet A. 2004. PMID: 15523606 No abstract available.

4

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA. Koolen DA, et al. J Med Genet. 2004 Dec;41(12):892-9. doi: 10.1136/jmg.2004.023671. J Med Genet. 2004. PMID: 15591274 Free PMC article.

5

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB. Koolen DA, et al. Eur J Hum Genet. 2005 Sep;13(9):1019-24. doi: 10.1038/sj.ejhg.5201456. Eur J Hum Genet. 2005. PMID: 15986041

6

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Among authors: koolen da. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.

7

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB. Kleefstra T, et al. Among authors: koolen da. Am J Med Genet A. 2006 Mar 15;140(6):618-23. doi: 10.1002/ajmg.a.31123. Am J Med Genet A. 2006. PMID: 16470689

8

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: koolen da. Clin Dysmorphol. 2006 Jul;15(3):133-137. doi: 10.1097/01.mcd.0000220605.94413.bb. Clin Dysmorphol. 2006. PMID: 16760730

9

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A. Feenstra I, et al. Among authors: koolen da. Eur J Med Genet. 2006 Jul-Aug;49(4):279-91. doi: 10.1016/j.ejmg.2005.10.131. Epub 2005 Nov 7. Eur J Med Genet. 2006. PMID: 16829349

10

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BBA. Koolen DA, et al. J Hum Genet. 2006;51(8):721-726. doi: 10.1007/s10038-006-0010-8. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865294

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