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Page 1
An emerging phenotype of proximal 11q deletions.
Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G. Melis D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3. Eur J Med Genet. 2010. PMID: 20688202
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.
Genesio R, Melis D, Gatto S, Izzo A, Ronga V, Cappuccio G, Lanzo A, Andria G, D'Esposito M, Matarazzo MR, Conti A, Nitsch L. Genesio R, et al. Among authors: d esposito m, melis d. Epigenetics. 2011 Oct 1;6(10):1242-7. doi: 10.4161/epi.6.10.17698. Epub 2011 Oct 1. Epigenetics. 2011. PMID: 21931280 Free article.
Good cognitive performances in a child with Prader-Willi syndrome.
Nugnes R, Zito E, Mozzillo E, Camarca ME, Riccio MP, Terrone G, Melis D, Bravaccio C, Franzese A. Nugnes R, et al. Among authors: melis d. Ital J Pediatr. 2013 Nov 15;39:74. doi: 10.1186/1824-7288-39-74. Ital J Pediatr. 2013. PMID: 24238393 Free PMC article.
169 results