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

by Spinelli, Marialuigia, Sica, Carmine, Dallapiccola, Bruno, Novelli, Antonio, Di Meglio, Letizia, Martinelli, Pasquale
Published in Case Rep Obstet Gynecol (2015)

CUGC for lysinuric protein intolerance (LPI)

by Martinelli, Diego, Schiff, Manuel, Semeraro, Michela, Agolini, Emanuele, Novelli, Antonio, Dionisi-Vici, Carlo
Published in Eur J Hum Genet (2020)

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

by Bizzarri, Carla, Pisaneschi, Elisa, Mucciolo, Mafalda, Pedicelli, Stefania, Galeazzi, Daniela, Novelli, Antonio, Cappa, Marco
Published in Ital J Pediatr (2017)

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

by Penta, Laura, Bizzarri, Carla, Panichi, Michela, Novelli, Antonio, Lepri, Francesca Romana, Cappa, Marco, Esposito, Susanna
Published in Int J Mol Sci (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...

by Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Published in Genes (Basel) (2020)

Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

by Bruni, Valentina, Scozzafava, Cristina, Gnazzo, Maria, Parisi, Francesca, Sestito, Simona, Pensabene, Licia, Novelli, Antonio, Concolino, Daniela
Published in J Pediatr Genet (2021)

Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality

by Zito, Alessandra, Lualdi, Marta, Granata, Paola, Cocciadiferro, Dario, Novelli, Antonio, Alberio, Tiziana, Casalone, Rosario, Fasano, Mauro
Published in Front Genet (2021)

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

by Petrini, Stefania, Borghi, Rossella, D'Oria, Valentina, Restaldi, Fabrizia, Moreno, Sandra, Novelli, Antonio, Bertini, Enrico, Compagnucci, Claudia
Published in Aging (Albany NY) (2017)

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

by Paglietti, Maria Giovanna, Cherchi, Claudio, Porcaro, Federica, Agolini, Emanuele, Schiavino, Alessandra, Petreschi, Francesca, Novelli, Antonio, Cutrera, Renato
Published in Ital J Pediatr (2019)

16p subtelomeric duplication: a clinically recognizable syndrome

by Digilio, Maria Cristina, Bernardini, Laura, Capalbo, Anna, Capolino, Rossella, Gagliardi, Maria Giulia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno
Published 2009

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

by Davis, Kyle W., Serrano, Moises, Loddo, Sara, Robinson, Catherine, Alesi, Viola, Dallapiccola, Bruno, Novelli, Antonio, Butler, Merlin G.
Published in Int J Mol Sci (2019)

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

by Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo
Published in Int J Mol Sci (2021)

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

by Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio
Published in Medicine (Baltimore) (2020)

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

by Ponzi, Emanuela, Alesi, Viola, Lepri, Francesca R., Genovese, Silvia, Loddo, Sara, Mucciolo, Mafalda, Novelli, Antonio, Dionisi‐Vici, Carlo, Maiorana, Arianna
Published in Mol Genet Genomic Med (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...

by Libotte, Francesco, Carpineto, Sonia Lorena, Dello Russo, Claudio, Viola, Antonella, Margiotti, Katia, Restaldi, Fabrizia, Novelli, Antonio, Mesoraca, Alvaro, Giorlandino, Claudio
Published in J Med Life (2020)

Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability

by Londin, Eric R., Adijanto, Jeffrey, Philp, Nancy, Novelli, Antonio, Vitale, Emilia, Perria, Chiara, Serra, Gigliola, Alesi, Viola, Surrey, Saul, Fortina, Paolo
Published in Am J Med Genet A (2014)

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

by Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco
Published in Genes (Basel) (2019)

Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

by Piazzolla, Mariano, Castellaneta, Nicola, Novelli, Antonio, Agolini, Emanuele, Cocciadiferro, Dario, Resta, Leonardo, Duda, Loren, Barone, Michele, Ierardi, Enzo, Di Leo, Alfredo
Published in World J Hepatol (2020)

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

by Amodeo, Silvia, Vitrano, Giuseppe, Guardino, Melania, Paci, Giuseppe, Corselli, Fulvio, Antona, Vincenzo, Barrano, Giuseppe, Magliozzi, Monia, Novelli, Antonio, Venezia, Renato, Corsello, Giovanni
Published in Ital J Pediatr (2020)

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities

by Gambardella, Stefano, Ciabattoni, Erika, Motta, Francesca, Stoico, Giusy, Gullotta, Francesca, Biancolella, Michela, Nardone, Anna Maria, Novelli, Antonio, Brunetti, Ercole, Bernardini, Laura, Novelli, Giuseppe
Published in Genomics Insights (2010)