A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly

por Barozzi, Serena, Bozzi, Valeria, De Rocco, Daniela, Giangregorio, Tania, Noris, Patrizia, Savoia, Anna, Pecci, Alessandro
Publicado 2021

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

por Magi, Alberto, Giangregorio, Tania, Semeraro, Roberto, Carangelo, Giulia, Palombo, Flavia, Romeo, Giovanni, Seri, Marco, Pippucci, Tommaso
Publicado 2020

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation

por Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, Bottega, Roberta
Publicado 2021

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

por Pecci, Alessandro, Ragab, Iman, Bozzi, Valeria, De Rocco, Daniela, Barozzi, Serena, Giangregorio, Tania, Ali, Heba, Melazzini, Federica, Sallam, Mohamed, Alfano, Caterina, Pastore, Annalisa, Balduini, Carlo L, Savoia, Anna
Publicado 2017

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency

por Cani, Ilaria, Pondrelli, Federica, Licchetta, Laura, Minardi, Raffaella, Giangregorio, Tania, Mostacci, Barbara, Muccioli, Lorenzo, Di Vito, Lidia, Fetta, Anna, Barba, Carmen, Castioni, Carlo Alberto, Bordugo, Andrea, Tinuper, Paolo, Bisulli, Francesca
Publicado 2022

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

por Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L., Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso
Publicado 2022

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

por Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, Seri, Marco, Tinuper, Paolo, Scheffer, Ingrid E, Bahlo, Melanie, Berkovic, Samuel F, Hildebrand, Michael S, Kunz, Wolfram S, Giordano, Lucio, Bisulli, Francesca, Martini, Miriam, Haucke, Volker, Hirsch, Emilio, Pippucci, Tommaso
Publicado 2022