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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. Among authors: genesio r. 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
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Magli A, Della Casa R. Ginocchio VM, et al. Among authors: genesio r. Eur J Med Genet. 2008 Nov-Dec;51(6):658-65. doi: 10.1016/j.ejmg.2008.07.011. Epub 2008 Aug 13. Eur J Med Genet. 2008. PMID: 18762283
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. Among authors: genesio r. 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
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: genesio r. Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7. Ital J Pediatr. 2016. PMID: 27072107 Free PMC article.
65 results