Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

por Zollino, Marcella, Ranieri, Carlotta, Grossi, Valentina, Leoni, Chiara, Lattante, Serena, Mazzà, Daniela, Simone, Cristiano, Resta, Nicoletta
Publicado 2019

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

por Morgan, Anna, Lenarduzzi, Stefania, Spedicati, Beatrice, Cattaruzzi, Elisabetta, Murru, Flora Maria, Pelliccione, Giulia, Mazzà, Daniela, Zollino, Marcella, Graziano, Claudio, Ambrosetti, Umberto, Seri, Marco, Faletra, Flavio, Girotto, Giorgia
Publicado 2020

Cullin3 - BTB Interface: A Novel Target for Stapled Peptides

por de Paola, Ivan, Pirone, Luciano, Palmieri, Maddalena, Balasco, Nicole, Esposito, Luciana, Russo, Luigi, Mazzà, Daniela, Di Marcotullio, Lucia, Di Gaetano, Sonia, Malgieri, Gaetano, Vitagliano, Luigi, Pedone, Emilia, Zaccaro, Laura
Publicado 2015

Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

por Santin, Aurora, Spedicati, Beatrice, Morgan, Anna, Lenarduzzi, Stefania, Tesolin, Paola, Nardone, Giuseppe Giovanni, Mazzà, Daniela, Di Lorenzo, Giovanni, Romano, Federico, Buonomo, Francesca, Mangogna, Alessandro, Concas, Maria Pina, Zito, Gabriella, Ricci, Giuseppe, Girotto, Giorgia
Publicado 2023

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

por Adler, Arnon, Novelli, Valeria, Amin, Ahmad S., Abiusi, Emanuela, Care, Melanie, Nannenberg, Eline A., Feilotter, Harriet, Amenta, Simona, Mazza, Daniela, Bikker, Hennie, Sturm, Amy C., Garcia, John, Ackerman, Michael J., Hershberger, Raymond E., Perez, Marco V., Zareba, Wojciech, Ware, James S., Wilde, Arthur A.M., Gollob, Michael H.
Publicado 2020

Itch/β-arrestin2-dependent non-proteolytic ubiquitylation of SuFu controls Hedgehog signalling and medulloblastoma tumorigenesis

por Infante, Paola, Faedda, Roberta, Bernardi, Flavia, Bufalieri, Francesca, Lospinoso Severini, Ludovica, Alfonsi, Romina, Mazzà, Daniela, Siler, Mariangela, Coni, Sonia, Po, Agnese, Petroni, Marialaura, Ferretti, Elisabetta, Mori, Mattia, De Smaele, Enrico, Canettieri, Gianluca, Capalbo, Carlo, Maroder, Marella, Screpanti, Isabella, Kool, Marcel, Pfister, Stefan M., Guardavaccaro, Daniele, Gulino, Alberto, Di Marcotullio, Lucia
Publicado 2018

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado 2016