Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

by Giulio Calcagni, Maria Cristina Digilio, Bruno Marino, Marco Tartaglia
Published 2019-07-01

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

by Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno
Published 2020-12-01

In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale

by Antonella Lauri, Giulia Fasano, Martina Venditti, Bruno Dallapiccola, Marco Tartaglia
Published 2021-05-01

Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis

by Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci
Published 2021-06-01

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency

by Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci
Published 2021-02-01

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

by Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno
Published 2020-01-01

Defining language disorders in children and adolescents with Noonan Syndrome

by Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri
Published 2020-04-01

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

by Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
Published 2020-06-01

Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation

by Michele Dileone, Federico Ranieri, Lucia Florio, Fioravante Capone, Gabriella Musumeci, Chiara Leoni, Laura Mordillo-Mateos, Marco Tartaglia, Giuseppe Zampino, Vincenzo Di Lazzaro
Published 2016-01-01

Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review

by Giuseppe Petruzzellis, Iside Alessi, Giovanna Stefania Colafati, Francesca Diomedi-Camassei, Andrea Ciolfi, Lucia Pedace, Antonella Cacchione, Andrea Carai, Marco Tartaglia, Angela Mastronuzzi, Evelina Miele
Published 2019-04-01

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

by May El Hachem, Sabina Barresi, Andrea Diociaiuti, Renata Boldrini, Angelo Giuseppe Condorelli, Ettore Capoluongo, Vittoria Proto, Giulietta Scuvera, Cristina Has, Marco Tartaglia, Daniele Castiglia
Published 2018-11-01

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome

by Paolo Alfieri, Francesco Demaria, Serena Licchelli, Ornella Santonastaso, Cristina Caciolo, Maria Cristina Digilio, Lorenzo Sinibaldi, Chiara Leoni, Maria Gnazzo, Marco Tartaglia, Patrizio Pasqualetti, Stefano Vicari
Published 2019-11-01

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

by Roberta Onesimo, Daniela Ricci, Cristiana Agazzi, Simona Leone, Maria Petrianni, Lorenzo Orazi, Filippo Amore, Annabella Salerni, Chiara Leoni, Daniela Chieffo, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino
Published 2021-06-01

Recognition Memory in Noonan Syndrome

by Floriana Costanzo, Paolo Alfieri, Cristina Caciolo, Paola Bergonzini, Francesca Perrino, Giuseppe Zampino, Chiara Leoni, Deny Menghini, Maria Cristina Digilio, Marco Tartaglia, Stefano Vicari, Giovanni Augusto Carlesimo
Published 2021-01-01

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

by Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino
Published 2021-01-01

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

by Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli
Published 2021-03-01

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

by Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia
Published 2020-03-01

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

by Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
Published 2017-08-01

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

by Daniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, Sabina Barresi, Naomi De Luca, Simone Pizzi, Iria Neri, Claudio Graziano, Diletta Trojan, Diego Ponzin, Sabrina Rossi, Giovanna Zambruno, Marco Tartaglia
Published 2021-05-01

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights

by Giulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Marcello Niceta, Anwar Baban, Francesca Piceci Sparascio, Fabrizio Drago, Alessandro De Luca, Marco Tartaglia, Bruno Marino, Paolo Versacci
Published 2021-07-01