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21 results

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Page 1
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: cirillo silengo m. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: cirillo silengo m. Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27108886 Free article.
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A. Biamino E, et al. Among authors: cirillo silengo m. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26620927 Free article.
[Genomic imprinting and human pathology. 2].
Cirillo Silengo M, Lerone M, Guala A. Cirillo Silengo M, et al. Pediatr Med Chir. 1995 Sep-Oct;17(5):389-94. Pediatr Med Chir. 1995. PMID: 8684991 Review. Italian.
The Coffin-Siris syndrome in two siblings.
Franceschini P, Cirillo Silengo M, Bianco R, Biagioli M, Guala A, Lopez Bell G. Franceschini P, et al. Among authors: cirillo silengo m. Pediatr Radiol. 1986;16(4):330-3. doi: 10.1007/BF02386876. Pediatr Radiol. 1986. PMID: 3725452
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB. Chiesa N, et al. Among authors: cirillo silengo m. Hum Mol Genet. 2012 Jan 1;21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14. Hum Mol Genet. 2012. PMID: 21920939 Free PMC article.
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A. Beygo J, et al. Among authors: cirillo silengo m. Hum Mol Genet. 2013 Feb 1;22(3):544-57. doi: 10.1093/hmg/dds465. Epub 2012 Oct 30. Hum Mol Genet. 2013. PMID: 23118352 Free PMC article.
21 results