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Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
Fatemi N, Salehi N, Pignata L, Palumbo P, Cubellis MV, Ramazanali F, Ray P, Varkiani M, Reyhani-Sabet F, Biglari A, Sparago A, Acurzio B, Palumbo O, Carella M, Riccio A, Totonchi M. Fatemi N, et al. Among authors: pignata l. J Med Genet. 2021 Nov;58(11):783-788. doi: 10.1136/jmedgenet-2020-106909. Epub 2020 Sep 16. J Med Genet. 2021. PMID: 32938693 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: pignata l. 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.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, Prada E, Melis D, Falco M, Spina J, Uliana V, Sara O, Sirchia F, Tarani L, Macchiaiolo M, Cerrato F, Sparago A, Pignata L, Tannorella P, Cardaropoli S, Bartuli A, Riccio A, Ferrero GB, Mussa A. Carli D, et al. Among authors: pignata l. Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21. Clin Genet. 2022. PMID: 35842840 Free PMC article.
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A. Nazaryan-Petersen L, et al. Among authors: pignata l. PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30419018 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: pignata l. Cancers (Basel). 2023 Mar 23;15(7):1944. doi: 10.3390/cancers15071944. Cancers (Basel). 2023. PMID: 37046605 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. Among authors: pignata l. Clin Epigenetics. 2019 Dec 11;11(1):190. doi: 10.1186/s13148-019-0760-8. Clin Epigenetics. 2019. PMID: 31829238 Free PMC article.
36 results