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Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Di Giosaffatte N, Bottillo I, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Di Giosaffatte N, et al. Among authors: laino l. Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506546 Free PMC article.
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, Scassellati GS, Silvestri E, Spagnuolo A, Laino L, Grammatico P. Bottillo I, et al. Among authors: laino l. BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376. BMC Res Notes. 2013. PMID: 24053387 Free PMC article.
An additional patient with 3q27.3 microdeletion syndrome.
Castori M, Bottillo I, Laino L, Morlino S, Grammatico B, Grammatico P. Castori M, et al. Among authors: laino l. J Child Neurol. 2015 Mar;30(4):500-4. doi: 10.1177/0883073814539557. Epub 2014 Jul 17. J Child Neurol. 2015. PMID: 25038125
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P, Laino L. Castori M, et al. Among authors: laino l. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663529
206 results