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 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 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 2016

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

por Palumbo, Orazio, Palumbo, Pietro, Di Muro, Ester, Cinque, Luigia, Petracca, Antonio, Carella, Massimo, Castori, Marco
Publicado 2020

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 2015

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

por Benvenuto, Mario, Palumbo, Pietro, Di Muro, Ester, Perrotta, Concetta Simona, Mazza, Tommaso, Mandarà, Giuseppa Maria Luana, Palumbo, Orazio, Carella, Massimo
Publicado 2023

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

por Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco
Publicado 2020

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

por Delvecchio, Maurizio, Ortolani, Federica, Palumbo, Orazio, Aloi, Concetta, Salina, Alessandro, Susca, Francesco Claudio, Palumbo, Pietro, Carella, Massimo, Resta, Nicoletta, Piccinno, Elvira
Publicado 2021

A novel biplanar medial opening-wedge high tibial osteotomy: the Z-shaped technique. A case series at 7.2 years follow-up

por Presutti, Marcello, Goderecci, Remo, Palumbo, Pietro, Giannetti, Alessio, Mazzoleni, Manuel Giovanni, Randelli, Filippo Maria Nicola, Angelozzi, Massimo, Calvisi, Vittorio, Fidanza, Andrea
Publicado 2021

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

por Palumbo, Pietro, Di Muro, Ester, Accadia, Maria, Benvenuto, Mario, Di Giacomo, Marilena Carmela, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Palumbo, Orazio, Carella, Massimo
Publicado 2021

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

por Di Stolfo, Giuseppe, Accadia, Maria, Mastroianno, Sandra, Leone, Maria P., Palumbo, Orazio, Palumbo, Pietro, Potenza, Domenico, Maccarone, Pasquale, Sacco, Michele, Russo, Aldo, Carella, Massimo
Publicado 2019

Comparison of the Genomic Profile of Cancer Stem Cells and Their Non-Stem Counterpart: The Case of Ovarian Cancer

por Mazzoldi, Elena Laura, Pastò, Anna, Pilotto, Giorgia, Minuzzo, Sonia, Piga, Ilaria, Palumbo, Pietro, Carella, Massimo, Frezzini, Simona, Nicoletto, Maria Ornella, Amadori, Alberto, Indraccolo, Stefano
Publicado 2020

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

por 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
Publicado 2017

Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy...

por Leone, Maria Pia, Palumbo, Pietro, Saenen, Johan, Mastroianno, Sandra, Castellana, Stefano, Amico, Cesare, Mazza, Tommaso, Potenza, Domenico Rosario, Petracca, Antonio, Castori, Marco, Carella, Massimo, Di Stolfo, Giuseppe
Publicado 2021

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

por Di Muro, Ester, Palumbo, Pietro, Benvenuto, Mario, Accadia, Maria, Di Giacomo, Marilena Carmela, Manieri, Sergio, Abate, Rosaria, Tagliente, Maria, Castellana, Stefano, Mazza, Tommaso, Carella, Massimo, Palumbo, Orazio
Publicado 2021

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

por Pignata, Laura, Cecere, Francesco, Acquaviva, Fabio, D’Angelo, Emilia, Cioffi, Daniela, Pellino, Valeria, Palumbo, Orazio, Palumbo, Pietro, Carella, Massimo, Sparago, Angela, De Brasi, Daniele, Cerrato, Flavia, Riccio, Andrea
Publicado 2023

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...

por 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
Publicado 2020

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease

por d'Orsi, Giuseppe, Farolfi, Andrea, Muccioli, Lorenzo, Palumbo, Orazio, Palumbo, Pietro, Modoni, Sergio, Allegri, Vincenzo, Garibotto, Valentina, Di Claudio, Maria Teresa, Di Muro, Ester, Benvenuto, Mario, Bisulli, Francesca, Carella, Massimo
Publicado 2023

Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer

por Cecere, Francesco, Pignata, Laura, Hay Mele, Bruno, Saadat, Abu, D’Angelo, Emilia, Palumbo, Orazio, Palumbo, Pietro, Carella, Massimo, Scarano, Gioacchino, Rossi, Giovanni Battista, Angelini, Claudia, Sparago, Angela, Cerrato, Flavia, Riccio, Andrea
Publicado 2023

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