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Human Mutation|September 20, 2006
The Italian XLMR bank: a clinical and molecular databaseC Pescucci, R Caselli, F Mari, et al.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.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.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.Clinical Genetics|September 17, 2013
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesC Fallerini, L Dosa, R Tita, et al.European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.Pageof 2