Koolen DA - Search Results

1

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: koolen da. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.

2

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.

Burger P, Colin F, Strehle A, Mazzucotelli T, Collot N, Coutelle R, Durand B, Bouman A, Landau Prat D, Kleefstra T, Parrend P, Piton A, Koolen DA, Mandel JL. Burger P, et al. Among authors: koolen da. J Neural Transm (Vienna). 2023 Mar;130(3):459-471. doi: 10.1007/s00702-022-02569-3. Epub 2022 Nov 27. J Neural Transm (Vienna). 2023. PMID: 36436153 Free PMC article.

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

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.

Koolen DA, Knoers NV, Nillesen WM, Slabbers GH, Smeets D, de Leeuw N, Sistermans EA, de Vries BB. Koolen DA, et al. Eur J Hum Genet. 2005 Nov;13(11):1169-71. doi: 10.1038/sj.ejhg.5201487. Eur J Hum Genet. 2005. PMID: 16118645 No abstract available.

7

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.

8

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

9

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

10

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

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