Paola Sabrina Buonuomo (Paola S Buonuomo)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 9

Top Topics

Systematic Review

Total Hip Arthroplasty

Top Venues

American journal of medical genetics. Part A

Journal of cardiovascular development and disease

Pediatric cardiology

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Christina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of cardiovascular development and disease 11 (4) (2024)
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Christina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of cardiovascular development and disease 11 (4) (2024)
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Christina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of cardiovascular development and disease 11 (4) (2024)
Marina Macchiaiolo, Filippo Maria Panfili, Davide Vecchio, Fabiana Cortellessa, Michaela V Gonfiantini, Paola Sabrina Buonuomo, Andrea Pietrobattista, Paola Francalanci, Lorena Travaglini, Enrico S Bertini, Maya El Hachem, Andrea Bartuli
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. American journal of medical genetics. Part A 188 (10) (2022)
Davide Vecchio, Dario Cocciadiferro, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Emanuele Agolini, Marta Matraxia, Alessia Carboni, Antonella Coretti, Andrea Villani, Filippo Maria Panfili, Maria Lisa Dentici, Paola Sabrina Buonuomo, Ippolita Rana, Giovanna Stefania Colafati, Maria Christina Digilio, Antonio Novelli, Andrea Bartuli
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up. Clinical genetics 102 (2) (2022)
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Journal of medical genetics (2022)
Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Michaela Carletti, Ippolita Rana, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Davide Vecchio, Ottavia Porzio, Andrea Bartuli
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH). Pediatric cardiology 41 (6) (2020)
Marina Macchiaiolo, Filippo Maria Panfili, Michaela Veronika Gonfiantini, Gerarda Mastrogiorgio, Paola Sabrina Buonuomo, Stefania Gaspari, Daniela Longo, Marcella Zollino, Andrea Bartuli
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome. American journal of medical genetics. Part A 182 (11) (2020)
Marina Macchiaiolo, Anna H Markowich, Andrea Diociaiuti, Michaela V Gonfiantini, Paola Sabrina Buonuomo, Ippolita Rana, Lidia Monti, May El Hachem, Andrea Bartuli
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association? American journal of medical genetics. Part A 182 (8) (2020)