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Page 1
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: piglionica m. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.
Resta N, Giorda R, Bagnulo R, Beri S, Della Mina E, Stella A, Piglionica M, Susca FC, Guanti G, Zuffardi O, Ciccone R. Resta N, et al. Among authors: piglionica m. Hum Genet. 2010 Oct;128(4):373-82. doi: 10.1007/s00439-010-0859-7. Epub 2010 Jul 11. Hum Genet. 2010. PMID: 20623358
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
Resta N, Calabrese O, Grossi V, Lugli L, Simone C, Ranieri C, Piglionica M, Lepore Signorile M, Rossi K, Carli D, Mussa A. Resta N, et al. Among authors: piglionica m. Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234302 Free article. No abstract available.
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: piglionica m. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M, Piglionica M, Bagnulo R, Cardaropoli S, Carli D, Turchiano A, Coppo P, Pantaleo A, Iacoviello M, Ferrero GB, Mussa A, Resta N. Luca M, et al. Among authors: piglionica m. Genes Chromosomes Cancer. 2023 Dec;62(12):703-709. doi: 10.1002/gcc.23188. Epub 2023 Jul 3. Genes Chromosomes Cancer. 2023. PMID: 37395289
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Turchiano A, Piglionica M, Martino S, Bagnulo R, Garganese A, De Luisi A, Chirulli S, Iacoviello M, Stasi M, Tabaku O, Meneleo E, Capurso M, Crocetta S, Lattarulo S, Krylovska Y, Lastella P, Forleo C, Stella A, Bukvic N, Simone C, Resta N. Turchiano A, et al. Among authors: piglionica m. Genes (Basel). 2023 Jul 26;14(8):1530. doi: 10.3390/genes14081530. Genes (Basel). 2023. PMID: 37628581 Free PMC article.
Corrigendum to "Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise" [Forensic. Sci. Int. Genet. 15 (2015) 56-63].
Robino C, Ralf A, Pasino S, De Marchi MR, Ballantyne KN, Barbaro A, Bini C, Carnevali E, Casarino L, Di Gaetano C, Fabbri M, Ferri G, Giardina E, Gonzalez A, Matullo G, Nutini AL, Onofri V, Piccinini A, Piglionica M, Ponzano E, Previderè C, Resta N, Scarnicci F, Seidita G, Sorçaburu-Cigliero S, Turrina S, Verzeletti A, Kayser M. Robino C, et al. Among authors: piglionica m. Forensic Sci Int Genet. 2018 May;34:e23-e24. doi: 10.1016/j.fsigen.2018.01.008. Epub 2018 Feb 7. Forensic Sci Int Genet. 2018. PMID: 29428588 No abstract available.
WITHDRAWN: Corrigendum to 'Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise' [Forensic. Sci. Int. Genet. 15 (2015) 56-63].
Robino C, Ralf A, Pasino S, De Marchi MR, Ballantyne KN, Barbaro A, Bini C, Carnevali E, Casarino L, Di Gaetano C, Fabbri M, Ferri G, Giardina E, Gonzalez A, Matullo G, Nutini AL, Onofri 5th, Piccinini A, Piglionica M, Ponzano E, Previderè C, Resta N, Scarnicci F, Seidita G, Sorçaburu-Cigliero S, Turrina S, Verzeletti A, Kayser M. Robino C, et al. Among authors: piglionica m. Forensic Sci Int Genet. 2018 Apr 5:S1872-4973(18)30195-9. doi: 10.1016/j.fsigen.2018.03.014. Online ahead of print. Forensic Sci Int Genet. 2018. PMID: 29627344 No abstract available.
33 results