piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene

Por Esposito, Teresa, Magliocca, Sara, Formicola, Daniela, Gianfrancesco, Fernando
Publicado em 2011

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Por De Filippo, Gianpaolo, Rendina, Domenico, Rocco, Vincenzo, Esposito, Teresa, Gianfrancesco, Fernando, Strazzullo, Pasquale
Publicado em 2013

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

Por Cannella, M, Martino, Tiziana, Simonelli, Maria, Ciammola, Andrea, Gradini, Roberto, Ciarmiello, Andrea, Gianfrancesco, Fernando, Squitieri, Ferdinando
Publicado em 2009

Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

Por Fernandez, Francesca, Esposito, Teresa, Lea, Rod A, Colson, Natalie J, Ciccodicola, Alfredo, Gianfrancesco, Fernando, Griffiths, Lyn R
Publicado em 2008

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

Por Formicola, Daniela, Aloia, Andrea, Sampaolo, Simone, Farina, Olimpia, Diodato, Daria, Griffiths, Lyn R, Gianfrancesco, Fernando, Di Iorio, Giuseppe, Esposito, Teresa
Publicado em 2010

DDX11L: a novel transcript family emerging from human subtelomeric regions

Por Costa, Valerio, Casamassimi, Amelia, Roberto, Roberta, Gianfrancesco, Fernando, Matarazzo, Maria R, D'Urso, Michele, D'Esposito, Maurizio, Rocchi, Mariano, Ciccodicola, Alfredo
Publicado em 2009

Differential Divergence of Three Human Pseudoautosomal Genes and Their Mouse Homologs: Implications for Sex Chromosome Evolution

Por Gianfrancesco, Fernando, Sanges, Remo, Esposito, Teresa, Tempesta, Sergio, Rao, Ercole, Rappold, Gudrun, Archidiacono, Nicoletta, Graves, Jennifer A.M., Forabosco, Antonino, D'Urso, Michele
Publicado em 2001

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Por Esposito, Teresa, Sampaolo, Simone, Limongelli, Giuseppe, Varone, Antonio, Formicola, Daniela, Diodato, Daria, Farina, Olimpia, Napolitano, Filomena, Pacileo, Giuseppe, Gianfrancesco, Fernando, Di Iorio, Giuseppe
Publicado em 2013

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

Por Iossa, Sandra, Morello, Giovanna, Esposito, Teresa, Corvino, Virginia, Giannini, Pasquale, Salvato, Raffaella, Cavaliere, Michele, Panetti, Maria, Panetti, Giuseppe, Piantedosi, Bruno, Gianfrancesco, Fernando, Marciano, Elio, Franzè, Annamaria
Publicado em 2014

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Por Sampaolo, Simone, Esposito, Teresa, Farina, Olimpia, Formicola, Daniela, Diodato, Daria, Gianfrancesco, Fernando, Cipullo, Federica, Cremone, Gaetana, Cirillo, Mario, Del Viscovo, Luca, Toscano, Antonio, Angelini, Corrado, Di Iorio, Giuseppe
Publicado em 2013

Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate

Por Gianfrancesco, Fernando, Esposito, Teresa, Ombra, Maria Neve, Forabosco, Paola, Maninchedda, Giuseppe, Fattorini, Mauro, Casula, Stefania, Vaccargiu, Simona, Casu, Giuseppina, Cardia, Francesco, Deiana, Ivo, Melis, Paola, Falchi, Mario, Pirastu, Mario
Publicado em 2003

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

Por Goode, Alice, Long, Jed E., Shaw, Barry, Ralston, Stuart H., Visconti, Micaela Rios, Gianfrancesco, Fernando, Esposito, Teresa, Gennari, Luigi, Merlotti, Daniela, Rendina, Domenico, Rea, Sarah L., Sultana, Melanie, Searle, Mark S., Layfield, Robert
Publicado em 2014

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

Por Divisato, Giuseppina, Formicola, Daniela, Esposito, Teresa, Merlotti, Daniela, Pazzaglia, Laura, Del Fattore, Andrea, Siris, Ethel, Orcel, Philippe, Brown, Jacques P., Nuti, Ranuccio, Strazzullo, Pasquale, Benassi, Maria Serena, Cancela, M. Leonor, Michou, Laetitia, Rendina, Domenico, Gennari, Luigi, Gianfrancesco, Fernando
Publicado no Am J Hum Genet (2016)