Marina Macchiaiolo

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 8

Top Venues

American journal of medical genetics. Part A

Orphanet journal of rare diseases

Italian journal of pediatrics

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

Publications

Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno, Marina Macchiaiolo
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report. Italian journal of pediatrics 49 (1) (2023)
Marina Macchiaiolo, Filippo M Panfili, Davide Vecchio, Michaela V Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report. Orphanet journal of rare diseases 17 (1) (2022)
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)
Maria Lisa Dentici, Vittorio Maglione, Emanuele Agolini, Gino Catena, Rossella Capolino, Valentina Lanari, Antonio Novelli, Lorenzo Sinibaldi, Davide Vecchio, Michaela V Gonfiantini, Marina Macchiaiolo, Maria C Digilio, Bruno Dallapiccola, Andrea Bartuli
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations. American journal of medical genetics. Part A 182 (8) (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)
Paola Cambiaso, Stefania Galassi, Melania Palmiero, Angela Mastronuzzi, Francesca Del Bufalo, Rossella Capolino, Antonella Cacchione, Paola S Buonuomo, Michaela V Gonfiantini, Andrea Bartuli, Marco Cappa, Marina Macchiaiolo
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma. American journal of medical genetics. Part A 173 (9) (2017)
Jennifer M Kalish, Leslie G Biesecker, Frederic Brioude, Matthew A Deardorff, Alessandra Di Cesare-Merlone, Todd Druley, Giovanni B Ferrero, Pablo Lapunzina, Lidia Larizza, Saskia Maas, Marina Macchiaiolo, Eamonn R Maher, Silvia Maitz, Julian A Martinez, Alessandro Mussa, Peter Robinson, Silvia Russo, Angelo Selicorni, Raoul C Hennekam
Nomenclature and definition in asymmetric regional body overgrowth. American journal of medical genetics. Part A 173 (7) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Marina Macchiaiolo