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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: sparago a. 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.
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. Among authors: sparago a. Cancers (Basel). 2023 Mar 23;15(7):1944. doi: 10.3390/cancers15071944. Cancers (Basel). 2023. PMID: 37046605 Free PMC article.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Valente FM, Sparago A, Freschi A, Hill-Harfe K, Maas SM, Frints SGM, Alders M, Pignata L, Franzese M, Angelini C, Carli D, Mussa A, Gazzin A, Gabbarini F, Acurzio B, Ferrero GB, Bliek J, Williams CA, Riccio A, Cerrato F. Valente FM, et al. Among authors: sparago a. Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12. Genet Med. 2019. PMID: 30635621 Free PMC article.
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Sparago A, Verma A, Patricelli MG, Pignata L, Russo S, Calzari L, De Francesco N, Del Prete R, Palumbo O, Carella M, Mackay DJG, Rezwan FI, Angelini C, Cerrato F, Cubellis MV, Riccio A. Sparago A, et al. Clin Epigenetics. 2019 Dec 11;11(1):190. doi: 10.1186/s13148-019-0760-8. Clin Epigenetics. 2019. PMID: 31829238 Free PMC article.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A. Cubellis MV, et al. Among authors: sparago a. Clin Epigenetics. 2020 Sep 14;12(1):139. doi: 10.1186/s13148-020-00925-2. Clin Epigenetics. 2020. PMID: 32928291 Free PMC article.
40 results