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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. Bernardini L, et al. Among authors: loddo s. Eur J Hum Genet. 2010 Feb;18(2):178-85. doi: 10.1038/ejhg.2009.154. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809473 Free PMC article.
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Among authors: loddo s. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.
Primerano A, Colao E, Villella C, Nocera MD, Ciambrone A, Luciano E, D'Antona L, Vismara MFM, Loddo S, Novelli A, Perrotti N, Malatesta P. Primerano A, et al. Among authors: loddo s. Mol Cytogenet. 2015 Sep 2;8:70. doi: 10.1186/s13039-015-0172-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26336513 Free PMC article.
Reassessment of the 12q15 deletion syndrome critical region.
Alesi V, Loddo S, Grispo M, Riccio S, Montella AC, Dallapiccola B, Ulgheri L, Novelli A. Alesi V, et al. Among authors: loddo s. Eur J Med Genet. 2017 Apr;60(4):220-223. doi: 10.1016/j.ejmg.2017.01.009. Epub 2017 Jan 31. Eur J Med Genet. 2017. PMID: 28159701
122 results