Towards Automation for Molecular Diagnosis of Cancer

por Ferrari, Maurizio, Carrera, Paola
Publicado 2005

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities

por Di Resta, Chiara, Galbiati, Silvia, Carrera, Paola, Ferrari, Maurizio
Publicado 2018

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

por Somaschini, Marco, Presi, Silvia, Ferrari, Maurizio, Vergani, Barbara, Carrera, Paola
Publicado 2017

Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing

por Di Resta, Chiara, Pipitone, Giovanni Battista, Carrera, Paola, Ferrari, Maurizio
Publicado 2020

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

por Privitera, Flavia, Piccini, Flavia, Recalcati, Maria Paola, Presi, Silvia, Mazzola, Silvia, Carrera, Paola
Publicado 2023

Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A

por Verriello, Lorenzo, Carrera, Paola, Pauletto, Giada, Bernardini, Andrea, Valente, Mariarosaria, Gigli, Gian Luigi
Publicado 2021

Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss

por Borgese, Nica, Guillén-Samander, Andrés, Colombo, Sara Francesca, Mancassola, Giulia, Di Berardino, Federica, Zanetti, Diego, Carrera, Paola
Publicado 2023

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

por Mingarelli, Alessia, Pipitone, Giovanni Battista, Torini, Giacomo, Patricelli, Maria Grazia, Totaro, Martina, Colonna, Clara, Carrera, Paola, Raviglione, Federico
Publicado 2023

Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant

por Bianco, Lorenzo, Arrigo, Alessandro, Antropoli, Alessio, Carrera, Paola, Spiga, Ivana, Patricelli, Maria Grazia, Bandello, Francesco, Battaglia Parodi, Maurizio
Publicado 2022

Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age

por Taurino, Jacopo, Micaglio, Emanuele, Russo Raucci, Annalisa, Zanussi, Monica, Chessa, Massimo, Udugampolage, Nathasha Samali, Carrera, Paola, Pappone, Carlo, Pini, Alessandro
Publicado 2023

Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

por Bucci, Romina, Tunesi, Francesca, De Rosa, Liliana Italia, Carrera, Paola, Mancassola, Giulia, Catania, Martina, Vezzoli, Giuseppe, Sciarrone Alibrandi, Maria Teresa
Publicado 2023

A disorder of surfactant metabolism without identified genetic mutations

por Montella, Silvia, Vece, Timothy J., Langston, Claire, Carrera, Paola, Nogee, Lawrence M., Hamvas, Aaron, Manna, Angelo, Cervasio, Mara, Santamaria, Francesca
Publicado 2015

Erratum to: A disorder of surfactant metabolism without identified genetic mutations

por Montella, Silvia, Vece, Timothy J., Langston, Claire, Carrera, Paola, Nogee, Lawrence M., Hamvas, Aaron, Manna, Angelo, Cervasio, Mariarosaria, Santamaria, Francesca
Publicado 2015

Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis

por Somaschini, Marco, Resta, Chiara Di, Volonteri, Chiara, Castiglioni, Emanuela, Bonfiglio, Silvia, Lazarevic, Dejan, Cittaro, Davide, Stupka, Elia, Ferrari, Maurizio, Carrera, Paola
Publicado 2015

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

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis

por Riva, Nilo, Pozzi, Laura, Russo, Tommaso, Pipitone, Giovanni Battista, Schito, Paride, Domi, Teuta, Agosta, Federica, Quattrini, Angelo, Carrera, Paola, Filippi, Massimo
Publicado 2022

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest t...

por Solazzo, Andrea, Testa, Francesca, Giovanella, Silvia, Busutti, Marco, Furci, Luciana, Carrera, Paola, Ferrari, Maurizio, Ligabue, Giulia, Mori, Giacomo, Leonelli, Marco, Cappelli, Gianni, Magistroni, Riccardo
Publicado 2018

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches

por Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Parodi, Maurizio Battaglia, Ferrari, Maurizio, Carrera, Paola
Publicado 2018

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome

por Micaglio, Emanuele, Andronache, Andreea Alina, Carrera, Paola, Monasky, Michelle M., Locati, Emanuela T., Pirola, Barbara, Presi, Silvia, Carminati, Mario, Ferrari, Maurizio, Giamberti, Alessandro, Pappone, Carlo
Publicado 2019