Rosangela Artuso

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

Mutations in <i>FN1</i> cause glomerulopathy with fibronectin deposits

Federica Castelletti, Roberta Donadelli, Federica Banterla et al. · Proceedings of the National Academy of Sciences · 2008 · 152 citations · Full text

Glomerular Disease, Fn1 Mutation, Genetics +17

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci et al. · Kidney International · 2017 · 120 citations · Full text

Hemodialysis, Urology, Renal Function +8

Novel <i>FOXG1</i> mutations associated with the congenital variant of Rett syndrome

Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso et al. · Journal of Medical Genetics · 2009 · 108 citations

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Zafar Iqbal, Pilar Cejudo-Martı́n, Arjan de Brouwer et al. · The American Journal of Human Genetics · 2010 · 101 citations · Full text

Frank-ter Haar Syndrome, Transcriptional Regulation, Genetic Disorder +7