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An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: giovannini s. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
"Minimal" holoprosencephaly in a 14q deletion syndrome patient.
Della Giustina E, Iodice A, Spagnoli C, Giovannini S, Frattini D, Fusco C, Gobbi G, Zollino M, Neri G. Della Giustina E, et al. Among authors: giovannini s. Am J Med Genet A. 2017 Dec;173(12):3216-3220. doi: 10.1002/ajmg.a.38378. Am J Med Genet A. 2017. PMID: 29136354
The ring 14 syndrome: clinical and molecular definition.
Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G. Zollino M, et al. Among authors: giovannini s. Am J Med Genet A. 2009 Jun;149A(6):1116-24. doi: 10.1002/ajmg.a.32831. Am J Med Genet A. 2009. PMID: 19441122
Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.
Giovannini S, Marangio L, Fusco C, Scarano A, Frattini D, Della Giustina E, Zollino M, Neri G, Gobbi G. Giovannini S, et al. Epilepsia. 2013 Dec;54(12):2204-13. doi: 10.1111/epi.12393. Epub 2013 Oct 1. Epilepsia. 2013. PMID: 24116895 Free article.
Partial seizures with affective semiology versus pavor nocturnus.
Cornaggia CM, Beghi M, Giovannini S, Boni A, Gobbi G. Cornaggia CM, et al. Among authors: giovannini s. Epileptic Disord. 2010 Mar;12(1):65-8. doi: 10.1684/epd.2010.0289. Epub 2010 Feb 19. Epileptic Disord. 2010. PMID: 20167565 Free article.
Epilepsy in chromosomal abnormalities: an Italian sample.
Parmeggiani A, Posar A, Giovannini S, Giovanardi-Rossi P. Parmeggiani A, et al. Among authors: giovannini s. J Child Neurol. 2005 May;20(5):419-23. doi: 10.1177/08830738050200050501. J Child Neurol. 2005. PMID: 15968927
PDCD10 gene mutations in multiple cerebral cavernous malformations.
Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, Penco S. Cigoli MS, et al. Among authors: giovannini s. PLoS One. 2014 Oct 29;9(10):e110438. doi: 10.1371/journal.pone.0110438. eCollection 2014. PLoS One. 2014. PMID: 25354366 Free PMC article.
220 results