Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report

by Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo
Published 2018-01-01

Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: <i>ANRIL</i> Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type...

by Viviana Tritto, Luca Ferrari, Silvia Esposito, Paola Zuccotti, Donatella Bianchessi, Federica Natacci, Veronica Saletti, Marica Eoli, Paola Riva
Published 2019-11-01

Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

by Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, Stefania Blasa, Tiziana Langella, Rosina Paterra, Giulia Anna Cagnoli, Giulia Melloni, Giulietta Scuvera, Federica Natacci, Claudia Cesaretti, Gaetano Finocchiaro, Marica Eoli
Published 2020-06-01

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in A Large Independent Cohort

by Giulia Melloni, Marica Eoli, Claudia Cesaretti, Donatella Bianchessi, Maria Cristina Ibba, Silvia Esposito, Giulietta Scuvera, Guido Morcaldi, Roberto Micheli, Elena Piozzi, Sabrina Avignone, Luisa Chiapparini, Chiara Pantaleoni, Federica Natacci, Gaetano Finocchiaro, and Veronica Saletti
Published 2019-11-01