Editorial: Unravelling the basis of non-invasive prenatal screening results

por De Falco, Luigia, Pelo, Elisabetta, Qi, Zhongxia, Novelli, Antonio
Publicado 2023

Hypoglycaemia Metabolic Gene Panel Testing

por Maiorana, Arianna, Lepri, Francesca Romana, Novelli, Antonio, Dionisi-Vici, Carlo
Publicado 2022

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

por Spinelli, Marialuigia, Sica, Carmine, Dallapiccola, Bruno, Novelli, Antonio, Di Meglio, Letizia, Martinelli, Pasquale
Publicado 2015

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

por Bizzarri, Carla, Pisaneschi, Elisa, Mucciolo, Mafalda, Pedicelli, Stefania, Galeazzi, Daniela, Novelli, Antonio, Cappa, Marco
Publicado 2017

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

por Mio, Catia, Passon, Nadia, Fogolari, Federico, Cesario, Claudia, Novelli, Antonio, Pittini, Carla, Damante, Giuseppe
Publicado 2021

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary

por Penta, Laura, Bizzarri, Carla, Panichi, Michela, Novelli, Antonio, Lepri, Francesca Romana, Cappa, Marco, Esposito, Susanna
Publicado 2019

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disa...

por Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2020

Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality

por Zito, Alessandra, Lualdi, Marta, Granata, Paola, Cocciadiferro, Dario, Novelli, Antonio, Alberio, Tiziana, Casalone, Rosario, Fasano, Mauro
Publicado 2021

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

por Moar, Agata, Bruni, Manfredo, Schena, Donatella, Rigotti, Erika, Colato, Chiara, Novelli, Antonio, Cesario, Claudia, Girolomoni, Giampiero
Publicado 2021

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

por Petrini, Stefania, Borghi, Rossella, D'Oria, Valentina, Restaldi, Fabrizia, Moreno, Sandra, Novelli, Antonio, Bertini, Enrico, Compagnucci, Claudia
Publicado 2017

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

por Paglietti, Maria Giovanna, Cherchi, Claudio, Porcaro, Federica, Agolini, Emanuele, Schiavino, Alessandra, Petreschi, Francesca, Novelli, Antonio, Cutrera, Renato
Publicado 2019

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

por Davis, Kyle W., Serrano, Moises, Loddo, Sara, Robinson, Catherine, Alesi, Viola, Dallapiccola, Bruno, Novelli, Antonio, Butler, Merlin G.
Publicado 2019

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D

por Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo
Publicado 2021

Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches

por Granata, Paola, Cocciadiferro, Dario, Zito, Alessandra, Pessina, Chiara, Bassani, Alessandro, Zambonin, Fabio, Novelli, Antonio, Fasano, Mauro, Casalone, Rosario
Publicado 2022

Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review

por Trivisano, Marina, Butera, Ambra, Quintavalle, Chiara, De Dominicis, Angela, Calabrese, Costanza, Cappelletti, Simona, Vigevano, Federico, Novelli, Antonio, Specchio, Nicola
Publicado 2023

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum

por Colona, Vito Luigi, Bertini, Enrico, Digilio, Maria Cristina, D’Amico, Adele, Novelli, Antonio, Pro, Stefano, Pisaneschi, Elisa, Nicita, Francesco
Publicado 2023

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

por Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio
Publicado 2020

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

por Capra, Anna Paola, La Rosa, Maria Angela, Briguori, Sara, Civa, Rosa, Passarelli, Chiara, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana
Publicado 2023

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

por Ponzi, Emanuela, Alesi, Viola, Lepri, Francesca R., Genovese, Silvia, Loddo, Sara, Mucciolo, Mafalda, Novelli, Antonio, Dionisi‐Vici, Carlo, Maiorana, Arianna
Publicado 2019

Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Exam...

por Libotte, Francesco, Carpineto, Sonia Lorena, Dello Russo, Claudio, Viola, Antonella, Margiotti, Katia, Restaldi, Fabrizia, Novelli, Antonio, Mesoraca, Alvaro, Giorlandino, Claudio
Publicado 2020