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

by Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Zelante Leopoldo, Carella Massimo
Published 2012-01-01

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

by Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Zelante, Leopoldo, Carella, Massimo
Published 2012

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

by Palumbo, Orazio, Fischetto, Rita, Palumbo, Pietro, Nicastro, Francesco, Papadia, Francesco, Zelante, Leopoldo, Carella, Massimo
Published in Mol Cytogenet (2015)

Molecular Detection of Neuron-Specific ELAV-Like-Positive Cells in the Peripheral Blood of Patients with Small-Cell Lung Cancer

by D’Alessandro, Vito, Muscarella, Lucia Anna, Copetti, Massimiliano, Zelante, Leopoldo, Carella, Massimo, Vendemiale, Gianluigi
Published in Cell Oncol (2008)

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

by Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Published in Mol Cytogenet (2016)

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p

by Savoia, Anna, Del Vecchio, Maria, Totaro, Antonio, Perrotta, Silverio, Amendola, Giovanni, Moretti, Arcangela, Zelante, Leopoldo, Iolascon, Achille
Published 1999

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus

by De Bonis, Patrizia, Laborante, Antonio, Pizzicoli, Costantina, Stallone, Raffaella, Barbano, Raffaela, Longo, Costanza, Mazzilli, Emilio, Zelante, Leopoldo, Bisceglia, Luigi
Published 2011

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

by Micale, Lucia, Muscarella, Lucia Anna, Marzulli, Marco, Augello, Bartolomeo, Tritto, Patrizia, D'Agruma, Leonardo, Zelante, Leopoldo, Palumbo, Gioacchino, Merla, Giuseppe
Published 2009

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

by Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela
Published 2014

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

by Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Carella, Massimo, Petracca, Antonio, De Crescenzo, Agostina, Zelante, Leopoldo, Riccio, Andrea, de Martino, Maurizio
Published in BMC Med Genet (2015)

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

by Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe
Published in J Pediatr Genet (2016)

Multiple Mutations of MYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

by Donaudy, Francesca, Ferrara, Antonella, Esposito, Laura, Hertzano, Ronna, Ben-David, Orit, Bell, Rachel E., Melchionda, Salvatore, Zelante, Leopoldo, Avraham, Karen B., Gasparini, Paolo
Published 2003

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

by Muscarella, Lucia Anna, Guarnieri, Vito, Coco, Michelina, Belli, Serena, Parrella, Paola, Pulcrano, Giuseppe, Catapano, Domenico, D'Angelo, Vincenzo A., Zelante, Leopoldo, D'Agruma, Leonardo
Published 2010

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

by Micale, Lucia, Turturo, Maria Giuseppina, Fusco, Carmela, Augello, Bartolomeo, Jurado, Luis A Pérez, Izzi, Claudia, Digilio, Maria Cristina, Milani, Donatella, Lapi, Elisabetta, Zelante, Leopoldo, Merla, Giuseppe
Published 2010

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

by Joensuu, Tarja, Hämäläinen, Riikka, Yuan, Bo, Johnson, Cheryl, Tegelberg, Saara, Gasparini, Paolo, Zelante, Leopoldo, Pirvola, Ulla, Pakarinen, Leenamaija, Lehesjoki, Anna-Elina, la Chapelle, Albert de, Sankila, Eeva-Marja
Published 2001

Pathogenetic role of the deafness-related M34T mutation of Cx26

by Bicego, Massimiliano, Beltramello, Martina, Melchionda, Salvatore, Carella, Massimo, Piazza, Valeria, Zelante, Leopoldo, Bukauskas, Feliksas F., Arslan, Edoardo, Cama, Elona, Pantano, Sergio, Bruzzone, Roberto, D’Andrea, Paola, Mammano, Fabio
Published 2006

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

by Melchionda, Salvatore, Ahituv, Nadav, Bisceglia, Luigi, Sobe, Tama, Glaser, Fabian, Rabionet, Raquel, Arbones, Maria Lourdes, Notarangelo, Angelo, Di Iorio, Enzo, Carella, Massimo, Zelante, Leopoldo, Estivill, Xavier, Avraham, Karen B., Gasparini, Paolo
Published 2001

Molecular Genetics of Cystinuria: Identification of Four New Mutations and Seven Polymorphisms, and Evidence for Genetic Heterogeneity

by Gasparini, Paolo, Calonge, Maria Julia, Bisceglia, Luigi, Purroy, Jesus, Dianzani, Irma, Notarangelo, Angelo, Rousaud, Ferran, Gallucci, Michele, Testar, Xavier, Ponzone, Alberto, Estivill, Xavier, Zorzano, Antonio, Palacin, Manuel, Nunes, Virginia, Zelante, Leopoldo
Published 1995

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

by Bisceglia, Luigi, Zoccolella, Stefano, Torraco, Alessandra, Piemontese, Maria Rosaria, Dell'Aglio, Rosa, Amati, Angela, De Bonis, Patrizia, Artuso, Lucia, Copetti, Massimiliano, Santorelli, Filippo Maria, Serlenga, Luigi, Zelante, Leopoldo, Bertini, Enrico, Petruzzella, Vittoria
Published 2010

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

by Schena, Francesco P, Cerullo, Giuseppina, Torres, Diletta D, Scolari, Francesco, Foramitti, Marina, Amoroso, Antonio, Pirulli, Doroti, Floege, Jürgen, Mertens, Peter R, Zerres, Klaus, Alexopoulos, Efstathios, Kirmizis, Dimitrios, Zelante, Leopoldo, Bisceglia, Luigi, Ghiggeri, Gian M, Frascà, Giovanni M
Published 2005