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Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Valetto A, et al. Among authors: saggese g. Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24. Eur J Med Genet. 2012. PMID: 22548977
17q12 microduplications: a challenge for clinicians.
Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A. Bertini V, et al. Among authors: saggese g. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905. Am J Med Genet A. 2015. PMID: 25691423
Vitamin D in childhood and adolescence: an expert position statement.
Saggese G, Vierucci F, Boot AM, Czech-Kowalska J, Weber G, Camargo CA Jr, Mallet E, Fanos M, Shaw NJ, Holick MF. Saggese G, et al. Eur J Pediatr. 2015 May;174(5):565-76. doi: 10.1007/s00431-015-2524-6. Epub 2015 Apr 2. Eur J Pediatr. 2015. PMID: 25833762 Review.
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, del Grosso A, Quaranta P, Cursi C, Tantillo E, Franceschi S, Mazzanti MC, Simi P, Saggese G, Boner A, Pistello M. Lai M, et al. Among authors: saggese g. J Med Genet. 2016 Apr;53(4):242-9. doi: 10.1136/jmedgenet-2015-103539. Epub 2016 Jan 4. J Med Genet. 2016. PMID: 26729821
229 results