Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

por Bianco, Angelica, Valletti, Alessio, Longo, Giovanna, Bisceglia, Luigi, Montoya, Julio, Emperador, Sonia, Guerriero, Silvana, Petruzzella, Vittoria
Publicado 2018

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 2011

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

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus

por Ludovico, Ornella, Carella, Massimo, Bisceglia, Luigi, Basile, Giorgio, Mastroianno, Sandra, Palena, Antonio, De Cosmo, Salvatore, Copetti, Massimiliano, Prudente, Sabrina, Trischitta, Vincenzo
Publicado 2015

Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of...

por Bianco, Angelica, Bisceglia, Luigi, De Caro, Maria Fara, Galeandro, Valeria, De Bonis, Patrizia, Tullo, Apollonia, Zoccolella, Stefano, Guerriero, Silvana, Petruzzella, Vittoria
Publicado 2018

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 2005