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)

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

by Nicoletti, Annalisa, Ziccardi, Lucia, Maltese, Paolo Enrico, Benedetti, Sabrina, Palumbo, Orazio, Rendina, Michelina, D'Agruma, Leonardo, Falsini, Benedetto, Wang, Xinjing, Bertelli, Matteo
Published in Genet Test Mol Biomarkers (2017)

Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors

by Pignata, Laura, Palumbo, Orazio, Cerrato, Flavia, Acurzio, Basilia, de Álava, Enrique, Roma, Josep, Gallego, Soledad, Mora, Jaume, Carella, Massimo, Riccio, Andrea, Verde, Gaetano
Published in Cancers (Basel) (2020)

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies

by Palumbo, Pietro, Di Muro, Ester, Accadia, Maria, Benvenuto, Mario, Di Giacomo, Marilena Carmela, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Palumbo, Orazio, Carella, Massimo
Published in Genes (Basel) (2021)

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription

by Di Stolfo, Giuseppe, Accadia, Maria, Mastroianno, Sandra, Leone, Maria P., Palumbo, Orazio, Palumbo, Pietro, Potenza, Domenico, Maccarone, Pasquale, Sacco, Michele, Russo, Aldo, Carella, Massimo
Published in Mol Genet Genomic Med (2019)

In ovo Injection of a Galacto-Oligosaccharide Prebiotic in Broiler Chickens Submitted to Heat-Stress: Impact on Transcriptomic Profile and Plasma Immune Parameters

by Bertocchi, Micol, Zampiga, Marco, Luise, Diana, Vitali, Marika, Sirri, Federico, Slawinska, Anna, Tavaniello, Siria, Palumbo, Orazio, Archetti, Ivonne, Maiorano, Giuseppe, Bosi, Paolo, Trevisi, Paolo
Published in Animals (Basel) (2019)

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

by De Cinque, Marianna, Palumbo, Orazio, Mazzucco, Ermelinda, Simone, Antonella, Palumbo, Pietro, Ciavatta, Renata, Maria, Giuliana, Ferese, Rosangela, Gambardella, Stefano, Angiolillo, Antonella, Carella, Massimo, Garofalo, Silvio
Published in Front Genet (2017)

BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments

by Consiglio, Arianna, Carella, Massimo, De Caro, Giorgio, Delle Foglie, Gianfranco, Giovannelli, Candida, Grillo, Giorgio, Ianigro, Massimo, Licciulli, Flavio, Palumbo, Orazio, Piepoli, Ada, Ranieri, Elena, Liuni, Sabino
Published 2012

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

by Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefano, Merla, Giuseppe
Published 2014

Molecular pathways undergoing dramatic transcriptomic changes during tumor development in the human colon

by Maglietta, Rosalia, Liuzzi, Vania Cosma, Cattaneo, Elisa, Laczko, Endre, Piepoli, Ada, Panza, Anna, Carella, Massimo, Palumbo, Orazio, Staiano, Teresa, Buffoli, Federico, Andriulli, Angelo, Marra, Giancarlo, Ancona, Nicola
Published 2012

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

by Boonen, Susanne Eriksen, Freschi, Andrea, Christensen, Rikke, Valente, Federica Maria, Lildballe, Dorte Launholt, Perone, Lucia, Palumbo, Orazio, Carella, Massimo, Uldbjerg, Niels, Sparago, Angela, Riccio, Andrea, Cerrato, Flavia
Published in Clin Epigenetics (2016)

Functional Implications of MicroRNAs in Crohn’s Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling

by Palmieri, Orazio, Creanza, Teresa Maria, Bossa, Fabrizio, Latiano, Tiziana, Corritore, Giuseppe, Palumbo, Orazio, Martino, Giuseppina, Biscaglia, Giuseppe, Scimeca, Daniela, Carella, Massimo, Ancona, Nicola, Andriulli, Angelo, Latiano, Anna
Published in Int J Mol Sci (2017)

Addendum: Palmieri, O. et al. Functional Implications of MicroRNAs in Crohn’s Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling. Int. J. Mol. Sci. 201...

by Palmieri, Orazio, Creanza, Teresa Maria, Bossa, Fabrizio, Latiano, Tiziana, Corritore, Giuseppe, Palumbo, Orazio, Martino, Giuseppina, Biscaglia, Giuseppe, Scimeca, Daniela, Carella, Massimo, Ancona, Nicola, Andriulli, Angelo, Latiano, Anna
Published in Int J Mol Sci (2017)

Genome-Wide Analysis of Differentially Expressed Genes and Splicing Isoforms in Clear Cell Renal Cell Carcinoma

by Valletti, Alessio, Gigante, Margherita, Palumbo, Orazio, Carella, Massimo, Divella, Chiara, Sbisà, Elisabetta, Tullo, Apollonia, Picardi, Ernesto, D’Erchia, Anna Maria, Battaglia, Michele, Gesualdo, Loreto, Pesole, Graziano, Ranieri, Elena
Published 2013

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androge...

by Disciglio, Vittoria, Devecchi, Andrea, Palumbo, Orazio, Carella, Massimo, Penso, Donata, Milione, Massimo, Valle, Giorgio, Pierotti, Marco Alessandro, Vitellaro, Marco, Bertario, Lucio, Canevari, Silvana, Signoroni, Stefano, De Cecco, Loris
Published in Chin J Cancer (2016)

Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients

by Nuzzo, Tommaso, Sacchi, Silvia, Errico, Francesco, Keller, Simona, Palumbo, Orazio, Florio, Ermanno, Punzo, Daniela, Napolitano, Francesco, Copetti, Massimiliano, Carella, Massimo, Chiariotti, Lorenzo, Bertolino, Alessandro, Pollegioni, Loredano, Usiello, Alessandro
Published in NPJ Schizophr (2017)

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

by Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E. C.
Published in BMC Med Genet (2017)

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

by Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E.C.
Published in BMC Med Genet (2017)

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i...

by Leone, Maria Pia, Palumbo, Pietro, Palumbo, Orazio, Di Muro, Ester, Chetta, Massimiliano, Laforgia, Nicola, Resta, Nicoletta, Stella, Alessandro, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Carella, Massimo, Bukvic, Nenad
Published in Ital J Pediatr (2020)

Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells

by Albanesi, Jacopo, Noguera, Nelida Ines, Banella, Cristina, Colangelo, Tommaso, De Marinis, Elisabetta, Leone, Stefano, Palumbo, Orazio, Voso, Maria Teresa, Ascenzi, Paolo, Nervi, Clara, Bianchi, Fabrizio, di Masi, Alessandra
Published in Cells (2020)