Francesca Ariani

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Dalila Rondinella, Rosangela Artuso et al. · The American Journal of Human Genetics · 2008 · 430 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Francesca Mari, Sara Azimonti, Ilaria Bertani et al. · Human Molecular Genetics · 2005 · 317 citations · Full text

Early-onset Seizure Variant, Rett Syndrome, Genetics +18

Evidence of digenic inheritance in Alport syndrome

Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey et al. · Journal of Medical Genetics · 2015 · 159 citations · Full text

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Chiara Fallerini, Laura Dosa, Rossella Tita et al. · Clinical Genetics · 2013 · 140 citations

Relevant Fraction, Next Generation, Mendelian Disorder +14

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Francesca Ariani, Francesca Mari, Chiara Pescucci et al. · Human Mutation · 2004 · 110 citations

Gross Rearrangements, Transcriptional Regulation, Mendelian Disorder +14