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501 results

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Page 1
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: de paepe a, de ravel t, de moor b. 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.
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Hellemans J, et al. Among authors: de paepe a. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489854
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.
Menten B, Pattyn F, De Preter K, Robbrecht P, Michels E, Buysse K, Mortier G, De Paepe A, van Vooren S, Vermeesch J, Moreau Y, De Moor B, Vermeulen S, Speleman F, Vandesompele J. Menten B, et al. Among authors: de paepe a, de preter k, de moor b. BMC Bioinformatics. 2005 May 23;6:124. doi: 10.1186/1471-2105-6-124. BMC Bioinformatics. 2005. PMID: 15910681 Free PMC article.
HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS.
Poppe B, Yigit N, De Moerloose B, De Paepe A, Benoit Y, Speleman F. Poppe B, et al. Among authors: de moerloose b, de paepe a. Cancer Genet Cytogenet. 2005 Oct 1;162(1):82-4. doi: 10.1016/j.cancergencyto.2005.03.004. Cancer Genet Cytogenet. 2005. PMID: 16157206
High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors.
Hoebeeck J, Michels E, Menten B, Van Roy N, Eggert A, Schramm A, De Preter K, Yigit N, De Smet E, De Paepe A, Laureys G, Vandesompele J, Speleman F. Hoebeeck J, et al. Among authors: de paepe a, de preter k, de smet e. Int J Cancer. 2007 Feb 1;120(3):533-8. doi: 10.1002/ijc.22326. Int J Cancer. 2007. PMID: 17096344
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.
D'haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, Wyss C, Speleman F, De Paepe A, Dekker J, Antonarakis SE, De Baere E. D'haene B, et al. Among authors: de paepe a, de baere e. PLoS Genet. 2009 Jun;5(6):e1000522. doi: 10.1371/journal.pgen.1000522. Epub 2009 Jun 19. PLoS Genet. 2009. PMID: 19543368 Free PMC article.
501 results