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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
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
Morlino S, Castori M, Servadei F, Laino L, Silvestri E; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P. Morlino S, et al. Among authors: laino l. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):554-66. doi: 10.1002/bdra.23327. Epub 2014 Oct 31. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25360518 Review.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Laino L, et al. Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11. Eur J Paediatr Neurol. 2016. PMID: 27470653
203 results