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Intrachromosomal triplication of 15q11-q13.
Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. Schinzel AA, et al. Among authors: brecevic l. J Med Genet. 1994 Oct;31(10):798-803. doi: 10.1136/jmg.31.10.798. J Med Genet. 1994. PMID: 7837257 Free PMC article.
Isochromosome 18p results from maternal meiosis II nondisjunction.
Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, Höller A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A. Kotzot D, et al. Among authors: brecevic l. Eur J Hum Genet. 1996;4(3):168-74. doi: 10.1159/000472191. Eur J Hum Genet. 1996. PMID: 8840117
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.
Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH. Schinzel A, et al. Among authors: brecevic l. J Med Genet. 1997 Dec;34(12):1012-4. doi: 10.1136/jmg.34.12.1012. J Med Genet. 1997. PMID: 9429145 Free PMC article.
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Kotzot D, et al. Among authors: brecevic l. J Med Genet. 2000 Apr;37(4):281-6. doi: 10.1136/jmg.37.4.281. J Med Genet. 2000. PMID: 10745046 Free PMC article.
45 results