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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: lamacchia v. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F, Bruno LP, Doddato G, Giliberti A, Tita R, Resciniti S, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Baldassarri M, Fabbiani A, Lamacchia V, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Valentino F, et al. Among authors: lamacchia v. Brain Sci. 2021 Jul 16;11(7):936. doi: 10.3390/brainsci11070936. Brain Sci. 2021. PMID: 34356170 Free PMC article.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Among authors: lamacchia v. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari F, Renieri A, Ariani F. Doddato G, et al. Among authors: lamacchia v. Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. eCollection 2021. Front Oncol. 2021. PMID: 34026625 Free PMC article.
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Rizzo CL, Lamacchia V, Mannucci S, Pinto AM, Currò A, Mancini V; Oncologic Multidisciplinary Team; Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team; Azienda Usl Toscana Sud Est; Mari F, Renieri A, Ariani F. Doddato G, et al. Among authors: lamacchia v. Front Oncol. 2021 Aug 17;11:740860. doi: 10.3389/fonc.2021.740860. eCollection 2021. Front Oncol. 2021. PMID: 34485163 Free PMC article.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I. Croci S, et al. Among authors: lamacchia v. Eur J Hum Genet. 2020 Sep;28(9):1231-1242. doi: 10.1038/s41431-020-0624-x. Epub 2020 Apr 24. Eur J Hum Genet. 2020. PMID: 32332872 Free PMC article.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. Croci S, et al. Among authors: lamacchia v. Eur J Hum Genet. 2020 Oct;28(10):1446-1458. doi: 10.1038/s41431-020-0652-6. Epub 2020 Jun 15. Eur J Hum Genet. 2020. PMID: 32541681 Free PMC article.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Among authors: lamacchia v. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network.
Vitale A, Sota J, Obici L, Ricco N, Maggio MC, Cattalini M, Ruscitti P, Caso F, Manna R, Viapiana O, Caggiano V, Emmi G, Insalaco A, Montin D, Licciardi F, Soriano A, Dagna L, Salvarani C, Lamacchia V, Hernández-Rodríguez J, Giacomelli R, Frediani B, Renieri A, Cantarini L. Vitale A, et al. Among authors: lamacchia v. Mediators Inflamm. 2020 May 27;2020:1936960. doi: 10.1155/2020/1936960. eCollection 2020. Mediators Inflamm. 2020. PMID: 32565720 Free PMC article.
Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry.
Sota J, Rigante D, Cimaz R, Cattalini M, Frassi M, Manna R, Sicignano LL, Verrecchia E, Aragona E, Maggio MC, Lopalco G, Emmi G, Parronchi P, Cauli A, Wiesik-Szewczyk E, Hernández-Rodríguez J, Gaggiano C, Tarsia M, Mourabi M, Ragab G, Vitale A, Fabiani C, Frediani B, Lamacchia V, Renieri A, Cantarini L; Autoinflammatory Diseases Alliance (AIDA) and the Autoinflammatory Diseases Working Group of the Italian Society of Rheumatology (SIR). Sota J, et al. Among authors: lamacchia v. Rheumatology (Oxford). 2021 Dec 1;60(12):5705-5712. doi: 10.1093/rheumatology/keab419. Rheumatology (Oxford). 2021. PMID: 33961014
14 results