Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

por Genesio, Rita, Ronga, Valentina, Castelluccio, Pia, Fioretti, Gennaro, Mormile, Angela, Leone, Graziella, Conti, Anna, Cavaliere, Maria Luigia, Nitsch, Lucio
Publicado 2013

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

por Genesio, Rita, Fontana, Paolo, Mormile, Angela, Casertano, Alberto, Falco, Mariateresa, Conti, Anna, Franzese, Adriana, Mozzillo, Enza, Nitsch, Lucio, Melis, Daniela
Publicado 2015

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

por Mollo, Nunzia, Cicatiello, Rita, Aurilia, Miriam, Scognamiglio, Roberta, Genesio, Rita, Charalambous, Maria, Paladino, Simona, Conti, Anna, Nitsch, Lucio, Izzo, Antonella
Publicado 2020

Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding

por Di Iorio, Valentina, Mozzillo, Enza, Rosanio, Francesco Maria, Di Candia, Francesca, Genesio, Rita, Testa, Francesco, Iovino, Claudio, Franzese, Adriana, Simonelli, Francesca
Publicado 2021

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Publicado 2016

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

por Genesio, Rita, Maruotti, Giuseppe Maria, Saccone, Gabriele, Mormile, Angela, Conti, Anna, Cicatiello, Rita, Sarnataro, Viviana, Sirico, Angelo, Izzo, Antonella, Martinelli, Pasquale, Nitsch, Lucio
Publicado 2018

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

por Cicatiello, Rita, Pignataro, Piero, Izzo, Antonella, Mollo, Nunzia, Pezone, Lucia, Maruotti, Giuseppe Maria, Sarno, Laura, Sglavo, Gabriella, Conti, Anna, Genesio, Rita, Nitsch, Lucio
Publicado 2019

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

por Andolfo, Immacolata, Martone, Stefania, Ribersani, Michela, Bianchi, Simona, Manna, Francesco, Genesio, Rita, Gambale, Antonella, Pignataro, Piero, Testi, Anna Maria, Iolascon, Achille, Russo, Roberta
Publicado 2020

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

por Conti, Anna, Fabbrini, Floriana, D'Agostino, Paola, Negri, Rosa, Greco, Dario, Genesio, Rita, D'Armiento, Maria, Olla, Carlo, Paladini, Dario, Zannini, Mariastella, Nitsch, Lucio
Publicado 2007

Lithium chloride induces mesenchymal-to-epithelial reverting transition in primary colon cancer cell cultures

por COSTABILE, VALERIA, DURATURO, FRANCESCA, DELRIO, PAOLO, REGA, DANIELA, PACE, UGO, LICCARDO, RAFFAELLA, ROSSI, GIOVANNI BATTISTA, GENESIO, RITA, NITSCH, LUCIO, IZZO, PAOLA, DE ROSA, MARINA
Publicado 2015

Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses

por Izzo, Antonella, Manco, Rosanna, de Cristofaro, Tiziana, Bonfiglio, Ferdinando, Cicatiello, Rita, Mollo, Nunzia, Martino, Marco De, Genesio, Rita, Zannini, Mariastella, Conti, Anna, Nitsch, Lucio
Publicado 2017

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

por Izzo, Antonella, Mollo, Nunzia, Nitti, Maria, Paladino, Simona, Calì, Gaetano, Genesio, Rita, Bonfiglio, Ferdinando, Cicatiello, Rita, Barbato, Maria, Sarnataro, Viviana, Conti, Anna, Nitsch, Lucio
Publicado 2018

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

por Pinelli, Michele, Terrone, Gaetano, Troglio, Flavia, Squeo, Gabriella Maria, Cappuccio, Gerarda, Imperati, Floriana, Pignataro, Piero, Genesio, Rita, Nitch, Lucio, Del Giudice, Ennio, Merla, Giuseppe, Testa, Giuseppe, Brunetti‐Pierri, Nicola
Publicado 2020

Invasive prenatal diagnosis during COVID-19 pandemic

por Carbone, Luigi, Raffone, Antonio, Sarno, Laura, Travaglino, Antonio, Saccone, Gabriele, Gabrielli, Olimpia, Migliorini, Sonia, Sirico, Angelo, Genesio, Rita, Castaldo, Giuseppe, Capponi, Alessandra, Zullo, Fulvio, Rizzo, Giuseppe, Maruotti, Giuseppe Maria
Publicado 2021

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

por Mozzillo, Enza, Delvecchio, Maurizio, Carella, Massimo, Grandone, Elvira, Palumbo, Pietro, Salina, Alessandro, Aloi, Concetta, Buono, Pietro, Izzo, Antonella, D’Annunzio, Giuseppe, Vecchione, Gennaro, Orrico, Ada, Genesio, Rita, Simonelli, Francesca, Franzese, Adriana
Publicado 2014

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

por Genesio, Rita, Mormile, Angela, Licenziati, Maria Rosaria, De Brasi, Daniele, Leone, Graziella, Balzano, Sara, Izzo, Antonella, Bonfiglio, Ferdinando, Conti, Anna, Fioretti, Gennaro, Lenta, Selvaggia, Poggiano, Maria Rita, Siani, Paolo, Nitsch, Lucio
Publicado 2015

Profilin 1 deficiency drives mitotic defects and reduces genome stability

por Scotto di Carlo, Federica, Russo, Sharon, Muyas, Francesc, Mangini, Maria, Garribba, Lorenza, Pazzaglia, Laura, Genesio, Rita, Biamonte, Flavia, De Luca, Anna Chiara, Santaguida, Stefano, Scotlandi, Katia, Cortés-Ciriano, Isidro, Gianfrancesco, Fernando
Publicado 2023

Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

por Mollo, Nunzia, Nitti, Maria, Zerillo, Lucrezia, Faicchia, Deriggio, Micillo, Teresa, Accarino, Rossella, Secondo, Agnese, Petrozziello, Tiziana, Calì, Gaetano, Cicatiello, Rita, Bonfiglio, Ferdinando, Sarnataro, Viviana, Genesio, Rita, Izzo, Antonella, Pinton, Paolo, Matarese, Giuseppe, Paladino, Simona, Conti, Anna, Nitsch, Lucio
Publicado 2019

Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

por Mollo, Nunzia, Nitti, Maria, Zerillo, Lucrezia, Faicchia, Deriggio, Micillo, Teresa, Accarino, Rossella, Secondo, Agnese, Petrozziello, Tiziana, Calì, Gaetano, Cicatiello, Rita, Bonfiglio, Ferdinando, Sarnataro, Viviana, Genesio, Rita, Izzo, Antonella, Pinton, Paolo, Matarese, Giuseppe, Paladino, Simona, Conti, Anna, Nitsch, Lucio
Publicado 2020

M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINAR...

por Barone, Annarita, Iasevoli, Felice, Matrone, Marta, Filomena Buonaguro, Elisabetta, Falco, Mariateresa, Genesio, Rita, Pignataro, Piero, Capasso, Mario, Gambale, Antonella, Avagliano, Camilla, Razzino, Eugenio, Notar Francesco, Danilo, Ciccarelli, Mariateresa, Vitiello, Giuseppina, Andolfo, Immacolata, Nitsch, Lucio, Iolascon, Achille, de Bartolomeis, Andrea
Publicado 2020