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

по Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Zelante Leopoldo, Carella Massimo
Опубликовано 2012-01-01

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

по Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Zelante, Leopoldo, Carella, Massimo
Опубликовано 2012

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

по Palumbo, Orazio, Fischetto, Rita, Palumbo, Pietro, Nicastro, Francesco, Papadia, Francesco, Zelante, Leopoldo, Carella, Massimo
Опубликовано в: Mol Cytogenet (2015)

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

по D’Alessandro, Vito, Muscarella, Lucia Anna, Copetti, Massimiliano, Zelante, Leopoldo, Carella, Massimo, Vendemiale, Gianluigi
Опубликовано в: Cell Oncol (2008)

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

по Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Опубликовано в: Mol Cytogenet (2016)

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p

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

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

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

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

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

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

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

по Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Carella, Massimo, Petracca, Antonio, De Crescenzo, Agostina, Zelante, Leopoldo, Riccio, Andrea, de Martino, Maurizio
Опубликовано в: BMC Med Genet (2015)

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

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

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

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

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

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

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

по 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
Опубликовано 2010

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

по 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
Опубликовано 2001

Pathogenetic role of the deafness-related M34T mutation of Cx26

по 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
Опубликовано 2006

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

по 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
Опубликовано 2001

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

по 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
Опубликовано 1995

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

по 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
Опубликовано 2010

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

по 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
Опубликовано 2005