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European Journal of Medical Genetics|May 22, 2007
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic earsR Caselli, M A Mencarelli, F T Papa, et al.European Journal of Medical Genetics|November 8, 2006
2q24-q31 deletion: report of a case and review of the literatureC Pescucci, R Caselli, S Grosso, et al.Journal of Human Genetics|May 16, 2007
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGHR Caselli, C Speciale, C Pescucci, et al.Clinical Genetics|November 19, 2011
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamicsR De Filippis, L Pancrazi, K Bjørgo, et al.Clinical Genetics|February 5, 2005
Germline mosaicism in Rett syndrome identified by prenatal diagnosisF Mari, R Caselli, S Russo, et al.Neuroscience|March 23, 2016
Visual impairment in FOXG1-mutated individuals and miceE M Boggio, L Pancrazi, M Gennaro, et al.Clinical Genetics|November 19, 2016
Alport syndrome: impact of digenic inheritance in patients managementC Fallerini, M Baldassarri, E Trevisson, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 13, 2018
Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panelL Vignatelli, E Antelmi, I Ceretelli, et al.Brain & Development|April 14, 2009
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteriaR Artuso, M A Mencarelli, R Polli, et al.Journal of Medical Genetics|July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndromeM A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.Pageof 7