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| Untersuchte Arbeit: Seite: 57, Zeilen: 17-24 |
Quelle: Bremer et al 2010 Seite(n): 116, Zeilen: left col 37-47 |
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| Until recently, karyotyping has been the standard method for the detection of cytogenetic aberrations in patients with developmental disorders. The development of whole-genome screening methodologies for the detection of CNVs, such as array-CGH, provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduplication syndromes, such as deletions and duplications in chromosome band 15q13.2q13.3, 16p11.2, and 17p11.2, often associated with an autism phenotype (Ballif et al., 2007; Potocki et al., 2007; Weiss et al., 2008; Miller et al., 2009).
3. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, et al. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39(9): 1071–1073. 16. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, et al. 2009. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46(4): 242–248. 18. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80(4): 633–649. 26. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7): 667–675. |
Until recently, karyotyping has been the standard method for the detection of cytogenetic aberrations in patients with developmental disorders. The development of whole-genome screening methodologies for the detection of CNVs, such as array-based comparative genomic hybridization (array-CGH), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion- and microduplication syndromes, such as deletions and duplications in chromosome band 15q13.2q13.3, 16p11.2, and 17p11.2, often associated with an autism phenotype [Ballif et al., 2007; Potocki et al., 2007; Weiss et al., 2008; Miller et al., 2009].
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, et al. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39(9):1071–1073. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, et al. 2009. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46(4):242–248 Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80(4):633–649. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675. |
Nothing has been marked as a citation; the source is not given. Though the source has a number of co-authors, M. M. is not one of them. In fact, Bremer et al 2010 presents results from a Stockholm (Sweden) based research team. |
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