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Idiopathic learning disability and genome imbalance.
Knight SJ, Regan R. Knight SJ, et al. Among authors: regan r. Cytogenet Genome Res. 2006;115(3-4):215-24. doi: 10.1159/000095917. Cytogenet Genome Res. 2006. PMID: 17124403 Review.
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB. Koolen DA, et al. Among authors: regan r. Eur J Hum Genet. 2008 Mar;16(3):395-400. doi: 10.1038/sj.ejhg.5201975. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159213
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.
Price TS, Regan R, Mott R, Hedman A, Honey B, Daniels RJ, Smith L, Greenfield A, Tiganescu A, Buckle V, Ventress N, Ayyub H, Salhan A, Pedraza-Diaz S, Broxholme J, Ragoussis J, Higgs DR, Flint J, Knight SJ. Price TS, et al. Among authors: regan r. Nucleic Acids Res. 2005 Jun 16;33(11):3455-64. doi: 10.1093/nar/gki643. Print 2005. Nucleic Acids Res. 2005. PMID: 15961730 Free PMC article.
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. Among authors: regan r. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
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: regan r. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164
Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype.
Ballabio E, Regan R, Garimberti E, Harbott J, Bradtke J, Teigler-Schlegel A, Biondi A, Cazzaniga G, Giudici G, Wainscoat JS, Boultwood J, Bridger JM, Knight SJ, Tosi S. Ballabio E, et al. Among authors: regan r. PLoS One. 2011;6(6):e20607. doi: 10.1371/journal.pone.0020607. Epub 2011 Jun 9. PLoS One. 2011. PMID: 21694761 Free PMC article.
204 results