Familial Hypercholesterolemia: new therapeutic approaches

por Bartuli, Andrea, Macchiaiolo, Marina, Rana, Ippolita, Buonuomo, Paola Sabrina
Publicado 2015

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital

por De Lorenzo, Francesca, Macchiaiolo, Marina, Carlevaris, Carla Maria, Bartuli, Andrea
Publicado 2017

Atherogenic Dyslipidemia and Cardiovascular Risk Factors in Obese Children

por D'Adamo, Ebe, Guardamagna, Ornella, Chiarelli, Francesco, Bartuli, Andrea, Liccardo, Daniela, Ferrari, Federica, Nobili, Valerio
Publicado 2015

Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome

por Carsetti, Rita, Valentini, Diletta, Marcellini, Valentina, Scarsella, Marco, Marasco, Emiliano, Giustini, Ferruccio, Bartuli, Andrea, Villani, Alberto, Ugazio, Alberto G
Publicado 2015

Pertussis in infants: an underestimated disease

por Vittucci, Anna Chiara, Spuri Vennarucci, Valentina, Grandin, Annalisa, Russo, Cristina, Lancella, Laura, Tozzi, Albero Eugenio, Bartuli, Andrea, Villani, Alberto
Publicado 2016

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype()

por Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Bordi, Matteo, Testa, Beatrice, Weber, Gerrit, Bellacchio, Emanuele, Tartaglia, Marco, Cecconi, Francesco, Bartuli, Andrea
Publicado 2020

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

por Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni
Publicado 2017

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

por Iarossi, Giancarlo, Sinibaldi, Lorenzo, Passarelli, Chiara, Coppe’, Andrea Maria, Cappelli, Alessandro, Petrocelli, Gianni, Catena, Gino, Perrone, Chiara, Falsini, Benedetto, Novelli, Antonio, Bartuli, Andrea, Buzzonetti, Luca
Publicado 2022

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage

por Callea, Francesco, Giovannoni, Isabella, Sari, Sinan, Guldal, Esendagli, Dalgic, Buket, Akyol, Gulen, Sogo, Tsuyoshi, Al-Hussaini, Abdulrahman, Maggiore, Giuseppe, Bartuli, Andrea, Boldrini, Renata, Francalanci, Paola, Bellacchio, Emanuele
Publicado 2017

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

por Mastrogiorgio, Gerarda, Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Bellacchio, Emanuele, Bordi, Matteo, Vecchio, Davide, Brown, Kari Payne, Watson, Natalie Karen, Contardi, Benedetta, Cecconi, Francesco, Tartaglia, Marco, Bartuli, Andrea
Publicado 2021

Expanding phenotype of FAM111B ‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym

por Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Cortellessa, Fabiana, Gonfiantini, Michaela V., Buonuomo, Paola S., Pietrobattista, Andrea, Francalanci, Paola, Travaglini, Lorena, Bertini, Enrico S., El Hachem, Maya, Bartuli, Andrea
Publicado 2022

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

por Macchiaiolo, Marina, Barresi, Sabina, Cecconi, Francesco, Zanni, Ginevra, Niceta, Marcello, Bellacchio, Emanuele, Lazzarino, Giacomo, Amorini, Angela Maria, Bertini, Enrico Silvio, Rizza, Salvatore, Contardi, Benedetta, Tartaglia, Marco, Bartuli, Andrea
Publicado 2017

Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

por Lo Bianco, Manuela, Vecchio, Davide, Timpanaro, Tiziana A., Arena, Alessia, Macchiaiolo, Marina, Bartuli, Andrea, Sciuto, Laura, Presti, Santiago, Sciuto, Sarah, Sapuppo, Annamaria, Fiumara, Agata, Marino, Lidia, Messina, Giulia, Pavone, Piero
Publicado 2020

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

por Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Gonfiantini, Michaela V., Cortellessa, Fabiana, Caciolo, Cristina, Zollino, Marcella, Accadia, Maria, Seri, Marco, Chinali , Marcello, Mammì, Corrado, Tartaglia, Marco, Bartuli, Andrea, Alfieri, Paolo, Priolo, Manuela
Publicado 2022

Stimulation of Treg Cells to Inhibit Osteoclastogenesis in Gorham-Stout Disease

por Rossi, Michela, Rana, Ippolita, Buonuomo, Paola Sabrina, Battafarano, Giulia, De Martino, Viviana, D’Agostini, Matteo, Porzio, Ottavia, Cipriani, Cristiana, Minisola, Salvatore, De Vito, Rita, Vecchio, Davide, Gonfiantini, Michaela Veronika, Jenkner, Alessandro, Bartuli, Andrea, Del Fattore, Andrea
Publicado 2021

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

por Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela
Publicado 2022

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

por Onesimo, Roberta, Sforza, Elisabetta, Trevisan, Valentina, Leoni, Chiara, Giorgio, Valentina, Rigante, Donato, Kuczynska, Eliza Maria, Proli, Francesco, Agazzi, Cristiana, Limongelli, Domenico, Digilio, Maria Cistina, Dentici, Maria Lisa, Macchiaiolo, Maria, Novelli, Antonio, Bartuli, Andrea, Sinibaldi, Lorenzo, Tartaglia, Marco, Zampino, Giuseppe
Publicado 2023

Expanding the novel MAPKAPK5 –related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

por Vecchio, Davide, Cocciadiferro, Dario, Macchiaiolo, Marina, Gonfiantini, Michaela Veronika, Agolini, Emanuele, Matraxia, Marta, Carboni, Alessia, Coretti, Antonella, Villani, Andrea, Panfili, Filippo Maria, Dentici, Maria Lisa, Buonuomo, Paola Sabrina, Rana, Ippolita, Colafati, Giovanna Stefania, Digilio, Maria Cristina, Novelli, Antonio, Bartuli, Andrea
Publicado 2022

Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls

por Pepe, Jessica, Rossi, Michela, Battafarano, Giulia, Vernocchi, Pamela, Conte, Federica, Marzano, Valeria, Mariani, Eda, Mortera, Stefano Levi, Cipriani, Cristiana, Rana, Ippolita, Buonuomo, Paola Sabrina, Bartuli, Andrea, De Martino, Viviana, Pelle, Simone, Pascucci, Luisa, Toniolo, Renato Maria, Putignani, Lorenza, Minisola, Salvatore, Del Fattore, Andrea
Publicado 2022

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

por Luca, Maria, Carli, Diana, Cardaropoli, Simona, Milani, Donatella, Cocchi, Guido, Leoni, Chiara, Macchiaiolo, Marina, Bartuli, Andrea, Tarani, Luigi, Melis, Daniela, Bontempo, Piera, D’Elia, Gemma, Prada, Elisabetta, Vitale, Raffaele, Grammegna, Angelina, Tannorella, Pierpaola, Sparago, Angela, Pignata, Laura, Riccio, Andrea, Russo, Silvia, Ferrero, Giovanni Battista, Mussa, Alessandro
Publicado 2023