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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
Up to date on primary ciliary dyskinesia in children.
Pifferi M, Di Cicco M, Piras M, Cangiotti AM, Saggese G. Pifferi M, et al. Among authors: saggese g. Early Hum Dev. 2013 Oct;89 Suppl 3:S45-8. doi: 10.1016/j.earlhumdev.2013.07.022. Epub 2013 Aug 22. Early Hum Dev. 2013. PMID: 23973004 Review.
Growth and puberty in Turner's syndrome.
Bertelloni S, Baroncelli GI, Fruzzetti F, Spinelli C, Simi P, Saggese G. Bertelloni S, et al. Among authors: saggese g. J Pediatr Endocrinol Metab. 2003 Mar;16 Suppl 2:307-15. J Pediatr Endocrinol Metab. 2003. PMID: 12729409 Review.
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
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
229 results