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Page 1
Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C. Zannolli R, et al. Among authors: macucci f. Brain Dev. 2006 Apr;28(3):155-61. doi: 10.1016/j.braindev.2005.06.011. Epub 2005 Dec 20. Brain Dev. 2006. PMID: 16368207
Polydactyly with ectodermal defect, osteopenia, and mental delay.
Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J. Zannolli R, et al. Among authors: macucci f. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182642
Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
Zannolli R, Buoni S, Macucci F, Miracco C, de Santi MM, Piomboni P, Bruni E, Malandrini A, Galluzzi P, Hadjistilianou T, Medaglini S, Mazzei MA, Sacco P, Terrosi-Vagnoli P, Volterrani L, Molinelli M, Burlina AB, Swift JA, Fimiani M. Zannolli R, et al. Among authors: macucci f. Am J Med Genet A. 2004 Jun 1;127A(2):212-6. doi: 10.1002/ajmg.a.20692. Am J Med Genet A. 2004. PMID: 15108215
Myoclonic encephalopathy in the CDKL5 gene mutation.
Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J. Buoni S, et al. Among authors: macucci f. Clin Neurophysiol. 2006 Jan;117(1):223-7. doi: 10.1016/j.clinph.2005.09.008. Epub 2005 Dec 2. Clin Neurophysiol. 2006. PMID: 16326141
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.
Buoni S, Zannolli R, Macucci F, Molinelli M, Viviano M, Cuccia A, Hayek J, Volterrani L, de Santi MM, Miracco C, Fois A. Buoni S, et al. Among authors: macucci f. Pediatr Dermatol. 2007 May-Jun;24(3):267-71. doi: 10.1111/j.1525-1470.2007.00400.x. Pediatr Dermatol. 2007. PMID: 17542878
18 results