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Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: lucca c. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Double somatic mosaicism in Cornelia de Lange syndrome.
Pezzani L, Pezzoli L, Rosina E, Scatigno A, Cereda A, Lucca C, Bellini M, Marchetti D, Maino M, Mangili G, Selicorni A, Iascone M. Pezzani L, et al. Among authors: lucca c. Am J Med Genet A. 2024 May;194(5):e63512. doi: 10.1002/ajmg.a.63512. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38135466
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G. Elli FM, et al. Among authors: lucca c. J Bone Miner Res. 2022 Mar;37(3):465-474. doi: 10.1002/jbmr.4490. Epub 2022 Jan 17. J Bone Miner Res. 2022. PMID: 34897794 Free PMC article.
Targeted silencing of GNAS in a human model of osteoprogenitor cells results in the deregulation of the osteogenic differentiation program.
Elli FM, Mattinzoli D, Ikehata M, Bagnaresi F, Maffini MA, Del Sindaco G, Pagnano A, Lucca C, Messa P, Arosio M, Castellano G, Alfieri CM, Mantovani G. Elli FM, et al. Among authors: lucca c. Front Endocrinol (Lausanne). 2024 May 17;15:1296886. doi: 10.3389/fendo.2024.1296886. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38828417 Free PMC article.
Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder.
Santambrogio J, Bertelli MO, Terrevazzi S, De Carolis L, Francia E, Boldoni C, Calascibetta M, Cudazzo E, Lucca C, Viganò V, Danese M, Minazzi GA, Santarone A, Bianco A, Hassiotis A, Clerici M. Santambrogio J, et al. Among authors: lucca c. J Intellect Disabil Res. 2023 Oct;67(10):1029-1045. doi: 10.1111/jir.13077. Epub 2023 Sep 10. J Intellect Disabil Res. 2023. PMID: 37690814
28 results