Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

por Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Publicado 2012

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as E...

por Zollino, Marcella, Lattante, Serena, Orteschi, Daniela, Frangella, Silvia, Doronzio, Paolo N., Contaldo, Ilaria, Mercuri, Eugenio, Marangi, Giuseppe
Publicado 2017

Investigating the “Fetal Side” in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue

por D’Ippolito, Silvia, Longo, Giuliana, Orteschi, Daniela, Busnelli, Andrea, Di Simone, Nicoletta, Pulcinelli, Eleonora, Schettini, Giorgia, Scambia, Giovanni, Zollino, Marcella
Publicado 2023

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

por MARANGI, Giuseppe, GARCOVICH, Simone, DI SANTE, Gabriele, ORTESCHI, Daniela, FRANGELLA, Silvia, SCALDAFERRI, Franco, GENUARDI, Maurizio, PERIS, Ketty, GURRIERI, Fiorella, ZOLLINO, Marcella
Publicado 2020

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

por D’ippolito, Silvia, Di Simone, Nicoletta, Orteschi, Daniela, Pomponi, Maria Grazia, Genuardi, Maurizio, Sisti, Leuconoe Grazia, Castellani, Roberta, Rossi, Esther Diana, Scambia, Giovanni, Zollino, Marcella
Publicado 2017

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Varia...

por Pasquetti, Domizia, Marangi, Giuseppe, Orteschi, Daniela, Carapelle, Marina, L’Erario, Federica Francesca, Venditti, Romina, Maietta, Sabrina, Battaglia, Domenica Immacolata, Contaldo, Ilaria, Veredice, Chiara, Zollino, Marcella
Publicado 2023

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

por Savarese, Marco, Piluso, Giulio, Orteschi, Daniela, Di Fruscio, Giuseppina, Dionisi, Manuela, Blanco, Francesca del Vecchio, Torella, Annalaura, Giugliano, Teresa, Iacomino, Michele, Zollino, Marcella, Neri, Giovanni, Nigro, Vincenzo
Publicado 2012

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

por Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M., Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella
Publicado 2021

Gene Expression Profile of Glioblastoma Peritumoral Tissue: An Ex Vivo Study

por Mangiola, Annunziato, Saulnier, Nathalie, De Bonis, Pasquale, Orteschi, Daniela, Sica, Gigliola, Lama, Gina, Pettorini, Benedetta Ludovica, Sabatino, Giovanni, Zollino, Marcella, Lauriola, Libero, Colabianchi, Anna, Proietti, Gabriella, Kovacs, Gyula, Maira, Giulio, Anile, Carmelo
Publicado 2013

Pembrolizumab as first-line treatment for metastatic uveal melanoma

por Rossi, Ernesto, Pagliara, Monica Maria, Orteschi, Daniela, Dosa, Tommaso, Sammarco, Maria Grazia, Caputo, Carmela Grazia, Petrone, Gianluigi, Rindi, Guido, Zollino, Marcella, Blasi, Maria Antonietta, Cassano, Alessandra, Bria, Emilio, Tortora, Giampaolo, Schinzari, Giovanni
Publicado 2019