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364 results

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Page 1
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA. Menko FH, et al. Among authors: de leeuw n. Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28. Clin Genet. 2008. PMID: 18510548 Free article.
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
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
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
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
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.
de Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DF, de Vries BB, Knoers NV. de Leeuw N, et al. Among authors: de vries bb. J Med Genet. 2008 Feb;45(2):122-4. doi: 10.1136/jmg.2007.054049. J Med Genet. 2008. PMID: 18245392 No abstract available.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. Among authors: de ravel tj, de leeuw n, de vries bb. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
364 results