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Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: vignoli a. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L. Giardino D, et al. Among authors: vignoli a. BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146. BMC Med Genet. 2010. PMID: 20939888 Free PMC article.
Ring chromosome 20.
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB. Daber RD, et al. Among authors: vignoli a. Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22. Eur J Med Genet. 2012. PMID: 22406087 Free article. Review.
Glioblastoma multiforme in a child with tuberous sclerosis complex.
Vignoli A, Lesma E, Alfano RM, Peron A, Scornavacca GF, Massimino M, Schiavello E, Ancona S, Cerati M, Bulfamante G, Gorio A, Canevini MP. Vignoli A, et al. Am J Med Genet A. 2015 Oct;167A(10):2388-93. doi: 10.1002/ajmg.a.37158. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946256
263 results