‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

por Kalantari, Silvia, Filges, Isabel
Publicado 2020

Neoplasia in Cri du Chat Syndrome from Italian and German Databases

por Guala, Andrea, Spunton, Marianna, Kalantari, Silvia, Kennerknecht, Ingo, Danesino, Cesare
Publicado 2017

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored

por Gambella, Alessandro, Kalantari, Silvia, Cadamuro, Massimiliano, Quaglia, Marco, Delvecchio, Maurizio, Fabris, Luca, Pinon, Michele
Publicado 2023

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

por Kalantari, Silvia, Brezzi, Brigida, Bracciamà, Valeria, Barreca, Antonella, Nozza, Paolo, Vaisitti, Tiziana, Amoroso, Antonio, Deaglio, Silvia, Manganaro, Marco, Porta, Francesco, Spada, Marco
Publicado 2022

New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?

por Pinon, Michele, Gambella, Alessandro, Giugliano, Laura, Chiadò, Cristina, Kalantari, Silvia, Bracciamà, Valeria, Deaglio, Silvia, Tinti, Davide, Peruzzi, Licia, Cotti, Roberta, Catalano, Silvia, Cadamuro, Massimiliano, Fabris, Luca, Calvo, Pier Luigi, Romagnoli, Renato
Publicado 2022

The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

por Avram, Elena, Ding, Can, de Miranda Cerqueira, Juliana Xavier, Johari, Mridul, da Silva, Ana Raquel Gouveia Freitas, Săbău, Ileana-Delia, Noor, Nuru, Kalantari, Silvia, Dore, Rhys, Barbosa-Matos, Rita, Mroczek, Magdalena, Tonini, Francesca
Publicado 2023

The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution

por Vaisitti, Tiziana, Bracciamà, Valeria, Faini, Angelo Corso, Brach Del Prever, Giulia Margherita, Callegari, Martina, Kalantari, Silvia, Mioli, Fiorenza, Romeo, Carmelo Maria, Luca, Maria, Camilla, Roberta, Mattozzi, Francesca, Gianoglio, Bruno, Peruzzi, Licia, Amoroso, Antonio, Deaglio, Silvia
Publicado 2023

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

por Saglia, Claudia, Bracciamà, Valeria, Trotta, Luca, Mioli, Fiorenza, Faini, Angelo Corso, Brach Del Prever, Giulia Margherita, Kalantari, Silvia, Luca, Maria, Romeo, Carmelo Maria, Scolari, Caterina, Peruzzi, Licia, Calvo, Pier Luigi, Mussa, Alessandro, Fenoglio, Roberta, Roccatello, Dario, Alberti, Claudio, Carli, Diana, Amoroso, Antonio, Deaglio, Silvia, Vaisitti, Tiziana
Publicado 2023

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

por Vaisitti, Tiziana, Sorbini, Monica, Callegari, Martina, Kalantari, Silvia, Bracciamà, Valeria, Arruga, Francesca, Vanzino, Silvia Bruna, Rendine, Sabina, Togliatto, Gabriele, Giachino, Daniela, Pelle, Alessandra, Cocchi, Enrico, Benvenuta, Chiara, Baldovino, Simone, Rollino, Cristiana, Fenoglio, Roberta, Sciascia, Savino, Tamagnone, Michela, Vitale, Corrado, Calabrese, Giovanni, Biancone, Luigi, Bussolino, Stefania, Savoldi, Silvana, Borzumati, Maurizio, Cantaluppi, Vincenzo, Chiappero, Fabio, Ungari, Silvana, Peruzzi, Licia, Roccatello, Dario, Amoroso, Antonio, Deaglio, Silvia
Publicado 2020

Expanding the KIF4A ‐associated phenotype

por Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Publicado 2021