<i>FOXC2</i> Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

Por Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli
Publicado em 2020-07-01

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

Por Rossella Cannarella, Vincenza Precone, Giulia Guerri, Gian Maria Busetto, Gian Carlo Di Renzo, Sandro Gerli, Elena Manara, Astrit Dautaj, Matteo Bertelli, Aldo Eugenio Calogero
Publicado em 2020-10-01

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Por Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo, Fabiana D’Esposito, Jan Miertus, Francesco Viola, Marcella Attanasio, Emilia Maggio, Matteo Bertelli
Publicado em 2019-10-01

Segregation Analysis of Rare <i>NRP1</i> and <i>NRP2</i> Variants in Families with Lymphedema

Por Sandro Michelini, Bruno Amato, Maurizio Ricci, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Elena Manara, Munis Dundar, Juraj Krajcovic, Syed Hussain Basha, Sasi Priya, Roberta Serrani, Giacinto A. D. Miggiano, Barbara Aquilanti, Giuseppina Matera, Valeria Velluti, Lucilla Gagliardi, Astrit Dautaj, Matteo Bertelli
Publicado em 2020-11-01