Marilena Pantaleo

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 · 125 citations · Full text

Medicine, Genetics, Nephrology +16

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet et al. · Human Genetics · 2020 · 28 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

Carla Marini, Antonella Cecconi, Elisa Contini et al. · American Journal of Medical Genetics Part A · 2013 · 25 citations

Life Sciences, Genetics, Molecular Genetics +16

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

Laura Giunti, Marilena Pantaleo, Iacopo Sardi et al. · PubMed · 2014 · 18 citations

Life Sciences, Genetics, Oncology +17

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

Stefano Stagi, Elisabetta Lapi, Salvatore Seminara et al. · BMC Endocrine Disorders · 2014 · 16 citations · Full text

Medicine, Endocrinology, Pediatrics +17