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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. Menten B, et al. Among authors: speleman f. J Med Genet. 2006 Aug;43(8):625-33. doi: 10.1136/jmg.2005.039453. Epub 2006 Feb 20. J Med Genet. 2006. PMID: 16490798 Free PMC article.
Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas.
Van Gele M, Van Roy N, Ronan SG, Messiaen L, Vandesompele J, Geerts ML, Naeyaert JM, Blennow E, Bar-Am I, Das Gupta TK, van der Drift P, Versteeg R, Leonard JH, Speleman F. Van Gele M, et al. Among authors: speleman f. Genes Chromosomes Cancer. 1998 Sep;23(1):67-71. doi: 10.1002/(sici)1098-2264(199809)23:1<67::aid-gcc10>3.0.co;2-b. Genes Chromosomes Cancer. 1998. PMID: 9713999
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: speleman f. 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.
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.
Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman JA, Larsen LA, Tümer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F. Buysse K, et al. Among authors: speleman f. J Med Genet. 2008 Oct;45(10):672-8. doi: 10.1136/jmg.2008.058883. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628311
Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
Van den Enden A, Verschraegen-Spae MR, Van Roy N, Decaluwe W, De Praeter C, Speleman F. Van den Enden A, et al. Among authors: speleman f. Am J Med Genet. 1996 Jun 14;63(3):482-5. doi: 10.1002/(SICI)1096-8628(19960614)63:3<482::AID-AJMG13>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8737657
410 results