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[Clinical and molecular study of the Noonan syndrome].
Cammarata-Scalisi F, Neri G, Pomponi MG, Mancano G, Da Silva G, Avendaño A, Lacruz-Rengel MA, Stock F, Sosa A. Cammarata-Scalisi F, et al. Among authors: mancano g. Invest Clin. 2012 Dec;53(4):395-401. Invest Clin. 2012. PMID: 23513489 Spanish.
Defining the role of the CGGBP1 protein in FMR1 gene expression.
Goracci M, Lanni S, Mancano G, Palumbo F, Chiurazzi P, Neri G, Tabolacci E. Goracci M, et al. Among authors: mancano g. Eur J Hum Genet. 2016 May;24(5):697-703. doi: 10.1038/ejhg.2015.182. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306647 Free PMC article.
Role of CTCF protein in regulating FMR1 locus transcription.
Lanni S, Goracci M, Borrelli L, Mancano G, Chiurazzi P, Moscato U, Ferrè F, Helmer-Citterich M, Tabolacci E, Neri G. Lanni S, et al. Among authors: mancano g. PLoS Genet. 2013;9(7):e1003601. doi: 10.1371/journal.pgen.1003601. Epub 2013 Jul 18. PLoS Genet. 2013. PMID: 23874213 Free PMC article.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Cafiero C, et al. Among authors: mancano g. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712080 Free PMC article.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Micale L, et al. Among authors: mancano g. Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906501 Free article.
Genetic counseling during COVID-19 pandemic: Tuscany experience.
Pagliazzi A, Mancano G, Forzano G, di Giovanni F, Gori G, Traficante G, Iolascon A, Giglio S. Pagliazzi A, et al. Among authors: mancano g. Mol Genet Genomic Med. 2020 Oct;8(10):e1433. doi: 10.1002/mgg3.1433. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32743952 Free PMC article.
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.
Ricci S, Lodi L, Serranti D, Moroni M, Belli G, Mancano G, La Barbera A, Forzano G, Mangone G, Indolfi G, Azzari C. Ricci S, et al. Among authors: mancano g. Front Immunol. 2019 Aug 27;10:1955. doi: 10.3389/fimmu.2019.01955. eCollection 2019. Front Immunol. 2019. PMID: 31507590 Free PMC article. Review.
31 results