Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

by Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
Published 2021-04-01

<i>TIE1</i> as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

by Sandro Michelini, Maurizio Ricci, Dominika Veselenyiova, Sercan Kenanoglu, Danjela Kurti, Mirko Baglivo, Alessandro Fiorentino, Syed Hussain Basha, Sasi Priya, Roberta Serrani, Juraj Krajcovic, Munis Dundar, Astrit Dautaj, Matteo Bertelli
Published 2020-09-01

NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants

by Sandro Michelini, Maurizio Ricci, Roberta Serrani, Shila Barati, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Sasi Priya, Astrit Dautaj, Munis Dundar, Juraj Krajcovic, Matteo Bertelli
Published 2021-01-01

Two rare PROX1 variants in patients with lymphedema

by Maurizio Ricci, Bruno Amato, Shila Barati, Rita Compagna, Dominika Veselenyiova, Sercan Kenanoglu, Liborio Stuppia, Tommaso Beccari, Mirko Baglivo, Danjela Kurti, Juraj Krajcovic, Roberta Serrani, Munis Dundar, Syed H. Basha, Pietro Chiurazzi, Matteo Bertelli
Published 2020-10-01

Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes

by Maurizio Ricci, Rita Compagna, Bruno Amato, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Roberta Serrani, Giacinto Abele Donato Miggiano, Barbara Aquilanti, Giuseppina Matera, Giuseppe Marceddu, Valeria Velluti, Lucilla Gagliardi, Munis Dundar, Juraj Krajcovic, Matteo Bertelli
Published 2020-01-01

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

by 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
Published 2020-11-01