Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

por Danesino, Cesare, Cantarini, Claudia, Olivieri, Carla
Publicado 2023

Neoplasia in Cri du Chat Syndrome from Italian and German Databases

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

Rapunzel syndrome: how to orient the diagnosis

por Finale, Enrico, Franceschini, Piergiorgio, Danesino, Cesare, Barbaglia, Michelangelo, Guala, Andrea
Publicado 2018

Vitamin B6 Neonatal Toxicity

por Guala, Andrea, Folgori, Giulia, Silvestri, Micaela, Barbaglia, Michelangelo, Danesino, Cesare
Publicado 2022

Children and adults affected by Cri du Chat syndrome: Care's recommendations

por Liverani, Maria Elena, Spano, Alice, Danesino, Cesare, Malacarne, Michela, Cavani, Simona, Spunton, Marianna, Guala, Andrea
Publicado 2019

Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain

por Scotti, Claudia, Olivieri, Carla, Boeri, Laura, Canzonieri, Cecilia, Ornati, Federica, Buscarini, Elisabetta, Pagella, Fabio, Danesino, Cesare
Publicado 2011

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old

por Cipolli, Marco, Tridello, Gloria, Micheletto, Alessio, Perobelli, Sandra, Pintani, Emily, Cesaro, Simone, Maserati, Emanuela, Nicolis, Elena, Danesino, Cesare
Publicado 2019

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Ge...

por Taha, Ibrahim, De Paoli, Federica, Foroni, Selena, Zucca, Susanna, Limongelli, Ivan, Cipolli, Marco, Danesino, Cesare, Ramenghi, Ugo, Minelli, Antonella
Publicado 2022

Familial adult-onset Pompe disease associated with unusual clinical and histological features

por MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Publicado 2013

Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance

por Guala, Andrea, Carrera, Paola, Pastore, Guido, Somaschini, Marco, Ancora, Gina, Faldella, Giacomo, De Filippi, Paolo, Ferrero, Federica, Guarino, Roberta, Danesino, Cesare
Publicado 2007

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

por Guala, Andrea, Spunton, Marianna, Tognon, Fabio, Pedrinazzi, Marilena, Medolago, Luisa, Cerutti Mainardi, Paola, Spairani, Silvia, Malacarne, Michela, Finale, Enrico, Comelli, Mario, Danesino, Cesare
Publicado 2016

Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group

por Bresolin, Silvia, De Filippi, Paola, Vendemini, Francesca, D'Alia, Mirko, Zecca, Marco, Meyer, Lueder H., Danesino, Cesare, Locatelli, Franco, Masetti, Riccardo, Basso, Giuseppe, te Kronnie, Geertruy
Publicado 2016

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

por Taha, Ibrahim, Foroni, Selena, Valli, Roberto, Frattini, Annalisa, Roccia, Pamela, Porta, Giovanni, Zecca, Marco, Bergami, Elena, Cipolli, Marco, Pasquali, Francesco, Danesino, Cesare, Scotti, Claudia, Minelli, Antonella
Publicado 2022

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

por Cetica, Valentina, Sieni, Elena, Pende, Daniela, Danesino, Cesare, De Fusco, Carmen, Locatelli, Franco, Micalizzi, Concetta, Putti, Maria Caterina, Biondi, Andrea, Fagioli, Franca, Moretta, Lorenzo, Griffiths, Gillian M., Luzzatto, Lucio, Aricò, Maurizio
Publicado 2016

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2

por Greco, Alessandra, Plumitallo, Sara, Scelsi, Laura, Maggi, Giannantonio, Sobrero, Matteo, Turco, Annalisa, Raineri, Claudia, Arseni, Natalia, Cappelletti, Donata, Visconti, Luigi Oltrona, Pagella, Fabio, Spinozzi, Giuseppe, Ghio, Stefano, Olivieri, Carla, Danesino, Cesare
Publicado 2018

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

por Khan, Abdul Waheed, Kennedy, Alyssa, Furutani, Elissa, Myers, Kasiani, Frattini, Annalisa, Acquati, Francesco, Roccia, Pamela, Micheloni, Giovanni, Minelli, Antonella, Porta, Giovanni, Cipolli, Marco, Cesaro, Simone, Danesino, Cesare, Pasquali, Francesco, Shimamura, Akiko, Valli, Roberto
Publicado 2021

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up

por Ravaglia, Sabrina, de Giuseppe, Rachele, Carlucci, Annalisa, Jehne, Susan, Crescimanno, Grazia, Ahmad, Lara, Paoletti, Matteo, Clemente, Gabriele, Pichiecchio, Anna, Bazzano, Rosella, Cirio, Serena, Valente, Enza Maria, Danesino, Cesare, De Filippi, Paola, Tartara, Alice, Cena, Hellas
Publicado 2022

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or nor...

por Khan, Abdul Waheed, Minelli, Antonella, Frattini, Annalisa, Montalbano, Giuseppe, Bogni, Alessia, Fabbri, Marco, Porta, Giovanni, Acquati, Francesco, Pinto, Rita Maria, Bergami, Elena, Mura, Rossella, Pegoraro, Anna, Cesaro, Simone, Cipolli, Marco, Zecca, Marco, Danesino, Cesare, Locatelli, Franco, Maserati, Emanuela, Pasquali, Francesco, Valli, Roberto
Publicado 2020

Genotype-phenotype correlation in Pompe disease, a step forward

por De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Publicado 2014

Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia

por Buscarini, Elisabetta, Leandro, Gioacchino, Conte, Dario, Danesino, Cesare, Daina, Erica, Manfredi, Guido, Lupinacci, Guido, Brambilla, Gianfranco, Menozzi, Fernanda, De Grazia, Federico, Gazzaniga, Pietro, Inama, Giuseppe, Bonardi, Roberto, Blotta, Pasquale, Forner, PierAngelo, Olivieri, Carla, Perna, Annalisa, Grosso, Maurizio, Pongiglione, Giacomo, Boccardi, Edoardo, Pagella, Fabio, Rossi, Giorgio, Zambelli, Alessandro
Publicado 2011