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FRAXF in a patient with chromosome 8 duplication.
Vianna-Morgante AM, Mingroni-Netto RC, Barbosa AC, Otto PA, Rosenberg C. Vianna-Morgante AM, et al. J Med Genet. 1996 Jul;33(7):611-4. doi: 10.1136/jmg.33.7.611. J Med Genet. 1996. PMID: 8818952 Free PMC article.
RB1 deletion in gonadoblastoma in an XY female.
Antonini S, Barbosa AS, Rosenberg C, Barbosa AC, Moreira-Filho AC, Vianna-Morgante AM. Antonini S, et al. Hum Genet. 1997 Dec;101(2):181-5. doi: 10.1007/s004390050610. Hum Genet. 1997. PMID: 9402965
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. Jehee FS, et al. J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456720
113 results