de Leeuw N - Search Results

1

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Among authors: de munnik s, de leeuw n. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.

2

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: de leeuw n, de vries bb. 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

3

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: de leeuw n, de vries bb. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164

4

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.

Vermeer S, Koolen DA, Visser G, Brackel HJ, van der Burgt I, de Leeuw N, Willemsen MA, Sistermans EA, Pfundt R, de Vries BB. Vermeer S, et al. Among authors: de leeuw n, de vries bb. Dev Med Child Neurol. 2007 May;49(5):380-4. doi: 10.1111/j.1469-8749.2007.00380.x. Dev Med Child Neurol. 2007. PMID: 17489814 Free article.

5

Pure subtelomeric microduplications as a cause of mental retardation.

Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB. Ruiter EM, et al. Among authors: de leeuw n, de vries bb. Clin Genet. 2007 Oct;72(4):362-8. doi: 10.1111/j.1399-0004.2007.00874.x. Clin Genet. 2007. PMID: 17850634

6

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: de gregori m, de leeuw n, de vries bb. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631

7

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.

van Bon BW, Koolen DA, Pfundt R, van der Burgt I, de Leeuw N, de Vries BB. van Bon BW, et al. Among authors: de leeuw n, de vries bb. Am J Med Genet A. 2008 May 1;146A(9):1225-9. doi: 10.1002/ajmg.a.32289. Am J Med Genet A. 2008. PMID: 18386802 Review. No abstract available.

8

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Faas BH, Nillesen W, Vermeer S, Weghuis DO, de Leeuw N, Smits AP, van Ravenswaaij-Arts CM. Faas BH, et al. Among authors: de leeuw n. Eur J Med Genet. 2008 Nov-Dec;51(6):511-9. doi: 10.1016/j.ejmg.2008.07.002. Epub 2008 Jul 19. Eur J Med Genet. 2008. PMID: 18691679

9

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB. Koolen DA, et al. Among authors: de leeuw n, de vries bb. Hum Mutat. 2009 Mar;30(3):283-92. doi: 10.1002/humu.20883. Hum Mutat. 2009. PMID: 19085936 Review.

10

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.

Willemsen MH, de Leeuw N, Pfundt R, de Vries BB, Kleefstra T. Willemsen MH, et al. Among authors: de leeuw n, de vries bb. Eur J Med Genet. 2009 Mar-Jun;52(2-3):134-9. doi: 10.1016/j.ejmg.2009.03.003. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303465

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