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Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R. Eggermann T, et al. Among authors: riccio a. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3. Eur J Hum Genet. 2014. PMID: 23820480 Free PMC article. No abstract available.
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
Sperandeo MP, Ungaro P, Vernucci M, Pedone PV, Cerrato F, Perone L, Casola S, Cubellis MV, Bruni CB, Andria G, Sebastio G, Riccio A. Sperandeo MP, et al. Among authors: riccio a. Am J Hum Genet. 2000 Mar;66(3):841-7. doi: 10.1086/302811. Am J Hum Genet. 2000. PMID: 10712200 Free PMC article.
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER. Cooper WN, et al. Among authors: riccio a. Eur J Hum Genet. 2005 Sep;13(9):1025-32. doi: 10.1038/sj.ejhg.5201463. Eur J Hum Genet. 2005. PMID: 15999116
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A. Cerrato F, et al. Among authors: riccio a. Hum Mol Genet. 2008 May 15;17(10):1427-35. doi: 10.1093/hmg/ddn031. Epub 2008 Feb 1. Hum Mol Genet. 2008. PMID: 18245780 Free article.
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Among authors: riccio a. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.
719 results