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From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R, Sforza E, Trevisan V, Leoni C, Giorgio V, Rigante D, Kuczynska EM, Proli F, Agazzi C, Limongelli D, Digilio MC, Dentici ML, Macchiaiolo M, Novelli A, Bartuli A, Sinibaldi L, Tartaglia M, Zampino G. Onesimo R, et al. Among authors: zampino g. Genes (Basel). 2023 Sep 22;14(10):1843. doi: 10.3390/genes14101843. Genes (Basel). 2023. PMID: 37895192 Free PMC article.
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. Sarkozy A, et al. Among authors: zampino g. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Lepri F, et al. Among authors: zampino g. Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28. Hum Mutat. 2011. PMID: 21387466 Free PMC article.
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).
Della Marca G, Leoni C, Dittoni S, Battaglia D, Losurdo A, Testani E, Colicchio S, Gnoni V, Gambardella ML, Mariotti P, Alfieri P, Tartaglia M, Zampino G. Della Marca G, et al. Among authors: zampino g. J Clin Neurophysiol. 2011 Jun;28(3):314-8. doi: 10.1097/WNP.0b013e31821c3ad5. J Clin Neurophysiol. 2011. PMID: 21633259
RDDR: a dysmorphology diagnostic network for newborns in central Italy.
Dentici ML, Tarani L, Digilio MC, Mingarelli R, Baban A, Zampino G, Romagnoli C, De Curtis M, Dallapiccola B. Dentici ML, et al. Among authors: zampino g. J Matern Fetal Neonatal Med. 2012 Oct;25 Suppl 4:121-3. doi: 10.3109/14767058.2012.714989. J Matern Fetal Neonatal Med. 2012. PMID: 22958041 Free article. Review.
271 results