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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Pignata L, Cecere F, Acquaviva F, D'Angelo E, Cioffi D, Pellino V, Palumbo O, Palumbo P, Carella M, Sparago A, De Brasi D, Cerrato F, Riccio A. Pignata L, et al. Among authors: cecere f. Front Cell Dev Biol. 2023 Aug 10;11:1237629. doi: 10.3389/fcell.2023.1237629. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37635873 Free PMC article.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Among authors: cecere f. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Passaretti F, Pignata L, Vitiello G, Alesi V, D'Elia G, Cecere F, Acquaviva F, De Brasi D, Novelli A, Riccio A, Iolascon A, Cerrato F. Passaretti F, et al. Among authors: cecere f. Genes (Basel). 2022 Oct 16;13(10):1875. doi: 10.3390/genes13101875. Genes (Basel). 2022. PMID: 36292759 Free PMC article.
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Cecere F, Pignata L, Hay Mele B, Saadat A, D'Angelo E, Palumbo O, Palumbo P, Carella M, Scarano G, Rossi GB, Angelini C, Sparago A, Cerrato F, Riccio A. Cecere F, et al. Cancers (Basel). 2023 Mar 23;15(7):1944. doi: 10.3390/cancers15071944. Cancers (Basel). 2023. PMID: 37046605 Free PMC article.
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: cecere 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.
125 results