S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

por Montioli, Riccardo, Roncador, Alessandro, Oppici, Elisa, Mandrile, Giorgia, Giachino, Daniela Francesca, Cellini, Barbara, Borri Voltattorni, Carla
Publicado 2014

First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE)

por Mandrile, Giorgia, Barella, Susanna, Giambona, Antonino, Gigante, Antonia, Grosso, Michela, Perrotta, Silverio, Scianguetta, Saverio, Forni, Gian Luca
Publicado 2022

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

por Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Publicado 2014

Genetic assessment in primary hyperoxaluria: why it matters

por Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap
Publicado 2022

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis

por Pagliarini, Roberto, Castello, Raffaele, Napolitano, Francesco, Borzone, Roberta, Annunziata, Patrizia, Mandrile, Giorgia, De Marchi, Mario, Brunetti-Pierri, Nicola, di Bernardo, Diego
Publicado 2016

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

por Ricci, Maria Teresa, Menegon, Silvia, Vatrano, Simona, Mandrile, Giorgia, Cerrato, Natascia, Carvalho, Paula, De Marchi, Mario, Gaita, Fiorenzo, Giustetto, Carla, Giachino, Daniela Francesca
Publicado 2014

Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease

por Mandrile, Giorgia, Pelle, Alessandra, Sciannameo, Veronica, Benetti, Elisa, D’Alessandro, Maria Michela, Emma, Francesco, Montini, Giovanni, Peruzzi, Licia, Petrarulo, Michele, Romagnoli, Renato, Vitale, Corrado, Cellini, Barbara, Giachino, Daniela
Publicado 2022

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

por Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara
Publicado 2022

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

por Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J.S., Cochat, Pierre, Deschênes, Georges, Harambat, Jérôme, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W., Bacchetta, Justine
Publicado 2022

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

por Cretu Stancu, Mircea, van Roosmalen, Markus J., Renkens, Ivo, Nieboer, Marleen M., Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P.
Publicado 2017

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

por Metry, Elisabeth L., Garrelfs, Sander F., Peters-Sengers, Hessel, Hulton, Sally-Anne, Acquaviva, Cecile, Bacchetta, Justine, Beck, Bodo B., Collard, Laure, Deschênes, Georges, Franssen, Casper, Kemper, Markus J., Lipkin, Graham W., Mandrile, Giorgia, Mohebbi, Nilufar, Moochhala, Shabbir H., Oosterveld, Michiel J.S., Prikhodina, Larisa, Hoppe, Bernd, Cochat, Pierre, Groothoff, Jaap W.
Publicado 2021

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

por Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Publicado 2014

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

por Metry, Elisabeth L., Garrelfs, Sander F., Deesker, Lisa J., Acquaviva, Cecile, D’Ambrosio, Viola, Bacchetta, Justine, Beck, Bodo B., Cochat, Pierre, Collard, Laure, Hogan, Julien, Ferraro, Pietro Manuel, Franssen, Casper F.M., Harambat, Jérôme, Hulton, Sally-Anne, Lipkin, Graham W., Mandrile, Giorgia, Martin-Higueras, Cristina, Mohebbi, Nilufar, Moochhala, Shabbir H., Neuhaus, Thomas J., Prikhodina, Larisa, Salido, Eduardo, Topaloglu, Rezan, Oosterveld, Michiel J.S., Groothoff, Jaap W., Peters-Sengers, Hessel
Publicado 2023

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

por Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Publicado 2017

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

por Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora
Publicado 2021