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)

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

Por D’Alessandro, Vito, Muscarella, Lucia Anna, Copetti, Massimiliano, Zelante, Leopoldo, Carella, Massimo, Vendemiale, Gianluigi
Publicado no Cell Oncol (2008)

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)

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p

Por Savoia, Anna, Del Vecchio, Maria, Totaro, Antonio, Perrotta, Silverio, Amendola, Giovanni, Moretti, Arcangela, Zelante, Leopoldo, Iolascon, Achille
Publicado em 1999

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

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

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

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

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

Por Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela
Publicado em 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

Por Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Carella, Massimo, Petracca, Antonio, De Crescenzo, Agostina, Zelante, Leopoldo, Riccio, Andrea, de Martino, Maurizio
Publicado no BMC Med Genet (2015)

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

Por Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe
Publicado no J Pediatr Genet (2016)

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

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

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

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

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

Por 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
Publicado em 2010

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

Por 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
Publicado em 2001

Pathogenetic role of the deafness-related M34T mutation of Cx26

Por 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
Publicado em 2006

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

Por 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
Publicado em 2001

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

Por 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
Publicado em 1995

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

Por 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
Publicado em 2010

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

Por 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
Publicado em 2005