A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Por Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Zelante Leopoldo, Carella Massimo
Publicado em 2012-01-01

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Por Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Zelante, Leopoldo, Carella, Massimo
Publicado em 2012

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes

Por Palumbo, Orazio, Fischetto, Rita, Palumbo, Pietro, Nicastro, Francesco, Papadia, Francesco, Zelante, Leopoldo, Carella, Massimo
Publicado no Mol Cytogenet (2015)

Clinical and molecular characterization of a de novo 19p13.3 microdeletion

Por Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Publicado no Mol Cytogenet (2016)

miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype

Por Tommasi, Stefania, Pinto, Rosamaria, Danza, Katia, Pilato, Brunella, Palumbo, Orazio, Micale, Lucia, Summa, Simona De
Publicado no Oncotarget (2016)

Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication

Por Palumbo, Orazio, Palumbo, Pietro, Ferri, Emanuela, Riviello, Francesco Nicola, Cloroformio, Lea, Carella, Massimo, Di Giacomo, Marilena Carmela
Publicado no Mol Cytogenet (2015)

MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis

Por Danza, Katia, Summa, Simona De, Pinto, Rosamaria, Pilato, Brunella, Palumbo, Orazio, Merla, Giuseppe, Simone, Gianni, Tommasi, Stefania
Publicado no Oncotarget (2014)

Neurological features of 14q24-q32 interstitial deletion: report of a new case

Por Nicita, Francesco, Di Giacomo, Marilena, Palumbo, Orazio, Ferri, Emanuela, Maiorani, Daniela, Vigevano, Federico, Carella, Massimo, Capuano, Alessandro
Publicado no Mol Cytogenet (2015)

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restricti...

Por De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Miceli, Marco, Bronshtein, Moshe, Riccio, Andrea, Yaron, Yuval
Publicado em 2013

Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients

Por Danza, Katia, De Summa, Simona, Pilato, Brunella, Carella, Massimo, Palumbo, Orazio, Popescu, Ondina, Paradiso, Angelo, Pinto, Rosamaria, Tommasi, Stefania
Publicado no J Transl Med (2014)

PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

Por Palumbo, Orazio, Palumbo, Pietro, Leone, Maria P., Stallone, Raffaella, Palladino, Teresa, Vendemiale, Marcella, Palladino, Stefano, Papadia, Francesco, Carella, Massimo, Fischetto, Rira
Publicado no Mol Syndromol (2016)

TGFbeta and miRNA regulation in familial and sporadic breast cancer

Por Danza, Katia, De Summa, Simona, Pinto, Rosamaria, Pilato, Brunella, Palumbo, Orazio, Carella, Massimo, Popescu, Ondina, Digennaro, Maria, Lacalamita, Rosanna, Tommasi, Stefania
Publicado no Oncotarget (2017)

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

Por Nicoletti, Annalisa, Ziccardi, Lucia, Maltese, Paolo Enrico, Benedetti, Sabrina, Palumbo, Orazio, Rendina, Michelina, D'Agruma, Leonardo, Falsini, Benedetto, Wang, Xinjing, Bertelli, Matteo
Publicado no Genet Test Mol Biomarkers (2017)

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

Por 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
Publicado em 2012

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

Por 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
Publicado em 2014

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

Por 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
Publicado em 2012

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

Por 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
Publicado no Clin Epigenetics (2016)

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

Por 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
Publicado no Int J Mol Sci (2017)

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

Por 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
Publicado em 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...

Por 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
Publicado no Chin J Cancer (2016)