Finite-Size Effects in Simulations of Peptide/Lipid Assembly

por Jarin, Zack, Agolini, Olivia, Pastor, Richard W.
Publicado 2022

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

How Could Medical and Surgical Treatment Affect the Quality of Life in Glaucoma Patients? A Cross-Sectional Study

por Pastore, Marco Rocco, Milan, Serena, Agolini, Rossella, Egidi, Leonardo, Agostini, Tiziano, Belfanti, Lorenzo, Cirigliano, Gabriella, Tognetto, Daniele
Publicado 2022

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

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

por Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco
Publicado 2019

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

por Siano, Maria Anna, De Maggio, Ilaria, Petillo, Roberta, Cocciadiferro, Dario, Agolini, Emanuele, Majolo, Massimo, Novelli, Antonio, Della Monica, Matteo, Piscopo, Carmelo
Publicado 2022

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

por Ponzi, Emanuela, Gentile, Mattia, Agolini, Emanuele, Matera, Emilia, Palumbi, Roberto, Buonadonna, Antonia Lucia, Peschechera, Antonia, Gabellone, Alessandra, Antonucci, Maria Fatima, Margari, Lucia
Publicado 2020

Liquid Biopsy with Detection of NRAS(Q61K) Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma

por Mastronuzzi, Angela, Fabozzi, Francesco, Rinelli, Martina, De Vito, Rita, Agolini, Emanuele, Colafati, Giovanna Stefania, Cacchione, Antonella, Carai, Andrea, De Ioris, Maria Antonietta
Publicado 2022

Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

por Radio, Francesca Clementina, Di Meglio, Lavinia, Agolini, Emanuele, Bellacchio, Emanuele, Rinelli, Martina, Toscano, Paolo, Boldrini, Renata, Novelli, Antonio, Di Meglio, Aniello, Dallapiccola, Bruno
Publicado 2018

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

por Pelizzo, Gloria, Collura, Mirella, Puglisi, Aurora, Pappalardo, Maria Pia, Agolini, Emanuele, Novelli, Antonio, Piccione, Maria, Cacace, Caterina, Bussani, Rossana, Corsello, Giovanni, Calcaterra, Valeria
Publicado 2019

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease

por Fabozzi, Francesco, De Vito, Rita, Gaspari, Stefania, Leone, Fabrizio, Delvecchio, Maurizio, Agolini, Emanuele, Galaverna, Federica, Mastronuzzi, Angela, Pagliara, Daria, De Ioris, Maria Antonietta
Publicado 2022

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study

por Calcaterra, Valeria, Avanzini, Maria Antonietta, Mantelli, Melissa, Agolini, Emanuele, Croce, Stefania, De Silvestri, Annalisa, Re, Giuseppe, Collura, Mirella, Maltese, Alice, Novelli, Antonio, Pelizzo, Gloria
Publicado 2018

BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas

por Del Bufalo, Francesca, Ceglie, Giulia, Cacchione, Antonella, Alessi, Iside, Colafati, Giovanna Stefania, Carai, Andrea, Diomedi-Camassei, Francesca, De Billy, Emmanuel, Agolini, Emanuele, Mastronuzzi, Angela, Locatelli, Franco
Publicado 2018

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

por Caroleo, Anna Maria, De Ioris, Maria Antonietta, Boccuto, Luigi, Alessi, Iside, Del Baldo, Giada, Cacchione, Antonella, Agolini, Emanuele, Rinelli, Martina, Serra, Annalisa, Carai, Andrea, Mastronuzzi, Angela
Publicado 2021

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

por Del Baldo, Giada, Carta, Roberto, Alessi, Iside, Merli, Pietro, Agolini, Emanuele, Rinelli, Martina, Boccuto, Luigi, Milano, Giuseppe Maria, Serra, Annalisa, Carai, Andrea, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2021

Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4

por Zaffina, Salvatore, Piano Mortari, Eva, Di Prinzio, Reparata Rosa, Cappa, Marco, Novelli, Antonio, Agolini, Emanuele, Raponi, Massimiliano, Dallapiccola, Bruno, Locatelli, Franco, Perno, Carlo Federico, Carsetti, Rita
Publicado 2022

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

por Micale, Lucia, Morlino, Silvia, Schirizzi, Annalisa, Agolini, Emanuele, Nardella, Grazia, Fusco, Carmela, Castellana, Stefano, Guarnieri, Vito, Villa, Roberta, Bedeschi, Maria Francesca, Grammatico, Paola, Novelli, Antonio, Castori, Marco
Publicado 2020

Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

por Ceglie, Giulia, Del Baldo, Giada, Agolini, Emanuele, Rinelli, Martina, Cacchione, Antonella, Del Bufalo, Francesca, Vinci, Maria, Carta, Roberto, Boccuto, Luigi, Miele, Evelina, Mastronuzzi, Angela, Locatelli, Franco, Carai, Andrea
Publicado 2020

Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aest...

por Panfili, Filippo Maria, Valente, Paola, Ficari, Andrea, Cortellessa, Fabiana, Vecchio, Davide, Gonfiantini, Michaela Veronika, Buonuomo, Paola Sabrina, Colafati, Giovanna Stefania, Agolini, Emanuele, Bartuli, Maria, Modugno, Alessandra Claudia, Macchiaiolo, Marina
Publicado 2023