Burkitt Lymphoma as Fourth Neoplasia in a Patient Affected by Cowden Syndrome with a Novel PTEN Germline Pathogenic Variant

por Galli, Eugenio, Malafronte, Rosalia, Brugnoletti, Fulvia, Zollino, Marcella, Hohaus, Stefan, D’Alò, Francesco
Publicado 2020

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

por Pavone, Piero, Praticò, Andrea D., Falsaperla, Raffaele, Ruggieri, Martino, Zollino, Marcella, Corsello, Giovanni, Neri, Giovanni
Publicado 2015

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

por Lattante, Serena, Marangi, Giuseppe, Doronzio, Paolo Niccolò, Conte, Amelia, Bisogni, Giulia, Zollino, Marcella, Sabatelli, Mario
Publicado 2020

Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations

por Bonanni, Giulia, Trevisan, Valentina, Zollino, Marcella, De Santis, Marco, Romanzi, Federica, Lanzone, Antonio, Bevilacqua, Elisa
Publicado 2022

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

por Zollino, Marcella, Ranieri, Carlotta, Grossi, Valentina, Leoni, Chiara, Lattante, Serena, Mazzà, Daniela, Simone, Cristiano, Resta, Nicoletta
Publicado 2019

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

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

por Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella
Publicado 2020

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

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1

por Midro, Alina T., Zollino, Marcella, Wiland, Ewa, Panasiuk, Barbara, Iwanowski, Piotr S., Murdolo, Marina, Śmigiel, Robert, Sąsiadek, Maria, Pilch, Jacek, Kurpisz, Maciej
Publicado 2015

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

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

por Morgan, Anna, Lenarduzzi, Stefania, Spedicati, Beatrice, Cattaruzzi, Elisabetta, Murru, Flora Maria, Pelliccione, Giulia, Mazzà, Daniela, Zollino, Marcella, Graziano, Claudio, Ambrosetti, Umberto, Seri, Marco, Faletra, Flavio, Girotto, Giorgia
Publicado 2020

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

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

por Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Gonfiantini, Michaela V., Cortellessa, Fabiana, Caciolo, Cristina, Zollino, Marcella, Accadia, Maria, Seri, Marco, Chinali , Marcello, Mammì, Corrado, Tartaglia, Marco, Bartuli, Andrea, Alfieri, Paolo, Priolo, Manuela
Publicado 2022

LETM1 couples mitochondrial DNA metabolism and nutrient preference

por Durigon, Romina, Mitchell, Alice L, Jones, Aleck WE, Manole, Andreea, Mennuni, Mara, Hirst, Elizabeth MA, Houlden, Henry, Maragni, Giuseppe, Lattante, Serena, Doronzio, Paolo Niccolo’, Dalla Rosa, Ilaria, Zollino, Marcella, Holt, Ian J, Spinazzola, Antonella
Publicado 2018

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

por Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela
Publicado 2022