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Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R, Dallapiccola B. Digilio MC, et al. Among authors: cerrato f. Birth Defects Res A Clin Mol Teratol. 2004 Feb;70(2):95-8. doi: 10.1002/bdra.10148. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 14991917
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.
Cerrato F, Pacileo G, Limongelli G, Gagliardi MG, Santoro G, Digilio MC, Di Salvo G, Ardorisio R, Miele T, Calabrò R. Cerrato F, et al. Cardiol Young. 2008 Dec;18(6):575-80. doi: 10.1017/S104795110800320X. Epub 2008 Oct 9. Cardiol Young. 2008. PMID: 18842161
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z. Mackay DJG, et al. Among authors: cerrato f. Clin Epigenetics. 2024 Aug 1;16(1):99. doi: 10.1186/s13148-024-01713-y. Clin Epigenetics. 2024. PMID: 39090763 Free PMC article. Review.
A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
Giaccari C, Cecere F, Argenziano L, Pagano A, Galvao A, Acampora D, Rossi G, Hay Mele B, Acurzio B, Coonrod S, Cubellis MV, Cerrato F, Andrews S, Cecconi S, Kelsey G, Riccio A. Giaccari C, et al. Among authors: cerrato f. Genes Dev. 2024 Mar 22;38(3-4):131-150. doi: 10.1101/gad.351238.123. Genes Dev. 2024. PMID: 38453481 Free PMC article.
131 results