F
Fernando Gianfrancesco
Researcher at National Research Council
Publications - 94
Citations - 2697
Fernando Gianfrancesco is an academic researcher from National Research Council. The author has contributed to research in topics: Gene & Paget's disease of bone. The author has an hindex of 24, co-authored 87 publications receiving 2360 citations. Previous affiliations of Fernando Gianfrancesco include American Board of Legal Medicine & International Institute of Minnesota.
Papers
More filters
Journal ArticleDOI
Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.
Omar M. E. Albagha,Micaela Rios Visconti,Nerea Alonso,Sachin Wani,Kirsteen Goodman,William D. Fraser,Luigi Gennari,Daniela Merlotti,Fernando Gianfrancesco,Teresa Esposito,Domenico Rendina,Marco Di Stefano,Giancarlo Isaia,Maria Luisa Brandi,Francesca Giusti,Javier del Pino-Montes,Luis Corral-Gudino,Rogelio González-Sarmiento,L.C. Ward,Sarah L. Rea,Thomas Ratajczak,John P. Walsh,Stuart H. Ralston +22 more
TL;DR: It is possible that with further refinement, genetic profiling may be of clinical value in identifying individuals at high risk of severe disease who might benefit from enhanced surveillance and early intervention.
Journal ArticleDOI
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
Daniela Formicola,A. Aloia,Simone Sampaolo,Olimpia Farina,Daria Diodato,Lyn R. Griffiths,Fernando Gianfrancesco,Giuseppe Di Iorio,Teresa Esposito +8 more
TL;DR: In this paper, the association of polymorphic variants of GRIA1-GRIA4 genes which encode for the four subunits of the alpha-amino-3- hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor for glutamate was tested in migraineurs with and without aura (MA and MO) and healthy controls.
Journal ArticleDOI
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
Teresa Esposito,Simone Sampaolo,Giuseppe Limongelli,Antonio Varone,Daniela Formicola,Daniela Formicola,Daria Diodato,Olimpia Farina,Filomena Napolitano,Giuseppe Pacileo,Fernando Gianfrancesco,Giuseppe Di Iorio +11 more
TL;DR: This study provides new insights into the genetics underlying Mendelian traits and demonstrates a role for digenic inheritance in complex phenotypes as well as identifying two novel disease genes.
Journal ArticleDOI
Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.
Fernando Gianfrancesco,Remo Sanges,Teresa Esposito,Sergio Tempesta,Ercole Rao,Gudrun A. Rappold,Nicoletta Archidiacono,Jennifer A. Marshall Graves,Antonino Forabosco,Michele D'Urso +9 more
TL;DR: The rapid divergence and loss of pseudoautosomal genes is interpreted in terms of a model of selection for the concentration of repetitive recombinogenic sequences that predispose to high recombination and translocation.
Journal ArticleDOI
A Novel Pseudoautosomal Gene Encoding a Putative GTP-Binding Protein Resides in the Vicinity of the Xp/Yp Telomere
Fernando Gianfrancesco,Teresa Esposito,Luisa Montanini,Alfredo Ciccodicola,Steven Mumm,Richard Mazzarella,Ercole Rao,Sabrina Giglio,Gudrun A. Rappold,Antonino Forabosco +9 more
TL;DR: It is demonstrated that PGPL, like other pseudoautosomal genes, escapes X inactivation and has a functional homologue on the Y chromosome, and this gene is expressed in all the tissues examined and is highly conserved across several species.