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Mosaic cri-du-chat syndrome in a girl with a mild phenotype.
Moreira LM, de Carvalho AF, Borja AL, Pinto PS, Silveira A, de Freitas LM, Falcão Mde L. Moreira LM, et al. Among authors: de freitas lm, de carvalho af. J Appl Genet. 2008;49(4):415-20. doi: 10.1007/BF03195641. J Appl Genet. 2008. PMID: 19029689
Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.
de Azevedo Moreira LM, Neri FB, de Quadros Uzeda S, de Carvalho AF, Santana GC, Souza FR, Rollemberg JC. de Azevedo Moreira LM, et al. Among authors: de carvalho af, de quadros uzeda s. Ophthalmic Genet. 2005 Mar;26(1):37-43. doi: 10.1080/13816810590927217. Ophthalmic Genet. 2005. PMID: 15823924
Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.
de Carvalho AF, da Silva Bellucco FT, dos Santos NP, Pellegrino R, de Azevedo Moreira LM, Toralles MB, Kulikowski LD, Melaragno MI. de Carvalho AF, et al. Among authors: de azevedo moreira lm. Am J Med Genet A. 2010 Aug;152A(8):2074-8. doi: 10.1002/ajmg.a.33524. Am J Med Genet A. 2010. PMID: 20635361
Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years.
de Carvalho AFL, Pitanga PML, Alves ES, Miguel DSCG, Santo LDE, de Araújo AEF, Ornellas ACP, Toralles MBP. de Carvalho AFL, et al. J Pediatr Genet. 2020 Dec 7;12(1):81-85. doi: 10.1055/s-0040-1721440. eCollection 2023 Mar. J Pediatr Genet. 2020. PMID: 36684553 Free PMC article.
99 results