Pubblicazioni

Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic Polr2a variant

2022 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Paparella, Roberto; Maria Caroleo, Anna; Agolini, Emanuele; Chillemi, Giovanni; Miele, Evelina; Pedace, Lucia; Rinelli, Martina; Pizzi, Simone; Boccuto, Luigi; Stefania Colafati, Giovanna; Lodi, Mariachiara; Cacchione, Antonella; Carai, Andrea; Cristina Digilio, Maria; Tomà, Paolo; Tartaglia, Marco; Mastronuzzi, Angela

Novel unconventional variants expand the allelic spectrum of OPHN1 gene

2021 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Nuovo, S.; Brankovic, V.; Caputi, C.; Casella, A.; Nigro, V.; Leuzzi, V.; Valente, E. M.

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Rossi-Espagnet, M. C.; Dentici, M. L.; Pasquini, L.; Carducci, C.; Lucignani, M.; Longo, D.; Agolini, E.; Novelli, A.; Gonfiantini, M. V.; Digilio, M. C.; Napolitano, A.; Bartuli, A.

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Pascolini, G.; Agolini, E.; Fleischer, N.; Gulotta, E.; Cesario, C.; D'Elia, G.; Novelli, A.; Majore, S.; Grammatico, P.

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

2019 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
de Billy, E.; Strocchio, L.; Cacchione, A.; Agolini, E.; Gnazzo, M.; Novelli, A.; De Vito, R.; Capolino, R.; Digilio, M. C.; Caruso, R.; Mastronuzzi, A.; Locatelli, F.

PRICKLE1-related early onset epileptic encephalopathy

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Radio, FRANCESCA CLEMENTINA; Digilio, Maria Cristina; Capolino, Rossella; Dentici, MARIA LISA; Unolt, Marta; Alesi, Viola; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Whitman, M. C.; Andrews, C.; Chan, W. -M.; Tischfield, M. A.; Stasheff, S. F.; Brancati, F.; Ortiz-Gonzalez, X.; Nuovo, S.; Garaci, F.; Mackinnon, S. E.; Hunter, D. G.; Grant, P. E.; Engle, E. C.

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno

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