Maria Christina Digilio (Maria Cristina Digilio, M C Digilio, Maria C Digilio, M Cristina Digilio)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 17

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Journal of cardiovascular development and disease

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)
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Maria Lisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Tartaglia Marco, Antonio Novelli, Andrea Bartuli, Maria Christina Digilio, Giulio Calcagni
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clinical genetics (2023)
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)
Maria Christina Digilio, Giulio Calcagni, Maria Gnazzo, Paolo Versacci, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Anwar Baban, Carolina Putotto, Paolo Alfieri, Marta Unolt, Francesca Romana Lepri, Viola Alesi, Silvia Genovesea, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
Congenital heart defects in molecularly confirmed KBG syndrome patients. American journal of medical genetics. Part A 188 (4) (2021)
Emanuele Agolini, Elena Botta, Mariachiara Lodi, Maria Christina Digilio, Martina Rinelli, Emanuele Bellacchio, Viola Alesi, Tiziana Nardo, Giovanna Zambruno, Donata Orioli, Iside Alessi, Luigi Boccuto, Sabrina Rossi, Andrea Carai, Giovanna Stefania Colafati, Antonella Cacchione, Bruno Dallapiccola, Antonio Novelli, Angela Mastronuzzi
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene. Clinical genetics 99 (6) (2021)
Valentina Guida, Francesca Piceci Sparascio, Laura Bernardini, Francesco Pancheri, Daniela Melis, Dario Cocciadiferro, Mario Pagnoni, Marianna Puzzo, Marina Goldoni, Chiara Barone, Hossein Hozhabri, Carolina Putotto, Maria Grazia Giuffrida, Silvana Briuglia, Orazio Palumbo, Sebastiano Bianca, Franco Stanzial, Francesco Benedicenti, Ariana Kariminejad, Francesca Forzano, Leila Baghernajad Salehi, Teresa Mattina, Francesco Brancati, Marco Castori, Massimo Carella, Maria Teresa Fadda, Giorgio Iannetti, Bruno Dallapiccola, Maria Christina Digilio, Bruno Marino, Tartaglia Marco, Alessandro De Luca
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. Clinical genetics 100 (3) (2021)
Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, Rossella Capolino, Elisa Pisaneschi, Emanuele Agolini, Martina Rinelli, Viola Alesi, Paolo Versacci, Silvia Genovesea, Claudia Cesario, Lorenzo Sinibaldi, Anwar Baban, Andrea Bartuli, Bruno Marino, Marco Cappa, Bruno Dallapiccola, Antonio Novelli, Maria Christina Digilio
KBG syndrome: Common and uncommon clinical features based on 31 new patients. American journal of medical genetics. Part A 182 (5) (2020)
Maria Christina Digilio, Monia Magliozzi, Alessandra Di Pede, Laura Valfrè, Maria Lisa Dentici, Cinzia Auriti, Bruno Marino, Antonio Novelli, Bruno Dallapiccola
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. American journal of medical genetics. Part A 179 (8) (2019)
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Andrea Ciolfi, Marina Trivisano, Andrea Bartuli, Maria Christina Digilio, Nicola Specchio, Bruno Dallapiccola, Marco Tartaglia
Expanding the clinical spectrum associated with PACS2 mutations. Clinical genetics 95 (4) (2019)
Maria Lisa Dentici, A Terracciano, E Bellacchio, R Capolino, A Novelli, Maria Christina Digilio, B Dallapiccola
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. Clinical genetics 93 (6) (2018)
Marta Unolt, Paolo Versacci, Silvia Anaclerio, Caterina Lambiase, Giulio Calcagni, Matteo Trezzi, Adriano Carotti, Terrence Blaine Crowley, Elaine H Zackai, Elizabeth Goldmuntz, James William Gaynor, Maria Christina Digilio, Donna M McDonald-McGinn, Bruno Marino
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers. American journal of medical genetics. Part A 176 (10) (2018)
Laura Bernardini, Francesca Clementina Radio, Fabio Acquaviva, Cristina Gorgone, Diana Postorivo, Barbara Torres, Viola Alesi, Monia Magliozzi, Fortunato Lonardo, Matteo Della Monica, Anna M Nardone, Claudia Cesario, Teresa Mattina, Gioacchino Scarano, Bruno Dallapiccola, Maria Christina Digilio, Antonio Novelli
Small 4p16.3 deletions: Three additional patients and review of the literature. American journal of medical genetics. Part A 176 (11) (2018)
Maria Christina Digilio, F Pugnaloni, A De Luca, G Calcagni, Anwar Baban, Maria Lisa Dentici, P Versacci, B Dallapiccola, M Tartaglia, B Marino
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. Clinical genetics 95 (2) (2018)
Maria Christina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
Congenital heart defects in molecularly proven Kabuki syndrome patients. American journal of medical genetics. Part A 173 (11) (2017)
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. American journal of medical genetics. Part A 173 (7) (2017)

Maria Christina Digilio.css-eqlu8i{font-size:small;padding-left:4px;} (Maria Cristina Digilio, M C Digilio, Maria C Digilio, M Cristina Digilio)

Publication Activity (10 Years)

Top Topics

Top Venues

Maria Christina Digilio (Maria Cristina Digilio, M C Digilio, Maria C Digilio, M Cristina Digilio)