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Page 1
Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier.
Marano M, Motolese F, Consoli F, De Luca A, Di Lazzaro V. Marano M, et al. Among authors: de luca a. Tremor Other Hyperkinet Mov (N Y). 2018 Dec 3;8:616. doi: 10.7916/D8S488X0. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 30622840 Free PMC article. Review.
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: de luca a. Am J Hum Genet. 2010 Aug 13;87(2):250-7. doi: 10.1016/j.ajhg.2010.06.015. Epub 2010 Jul 8. Am J Hum Genet. 2010. PMID: 20619386 Free PMC article.
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Among authors: de luca a. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: de luca a. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M. Martinelli S, et al. Among authors: de luca a. Hum Mutat. 2015 Aug;36(8):787-96. doi: 10.1002/humu.22809. Epub 2015 Jun 1. Hum Mutat. 2015. PMID: 25952305 Free article.
2,251 results