GIANFRANCESCO, FERNANDO

GIANFRANCESCO, FERNANDO  

Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli  

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A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model 1-gen-2023 Russo, Sharon; di Carlo Federica, Scotto; Maurizi, Antonio; Fortunato, Giorgio; Teti, Anna; Licastro, Danilo; Settembre, Carmine; Mello, Tommaso; Gianfrancesco, Fernando
Profilin 1 deficiency drives mitotic defects and reduces genome stability 1-gen-2023 Scotto di Carlo, F; Russo, S; Muyas, F; Mangini, M; Garribba, L; Pazzaglia, L; Genesio, R; Biamonte, F; DE LUCA, ANNA CHIARA; Santaguida, S; Scotlandi, K; Cortesciriano, I; Gianfrancesco, F
Early Alpine occupation backdates westward human migration in Late Glacial Europe 1-gen-2021 Bortolini, E; Pagani, L; Oxilia, G; Posth, C; Fontana, F; Badino, F; Saupe, T; Montinaro, F; Margaritora, D; Romandini, M; Lugli, F; Papini, A; Boggioni, M; Perrini, N; Oxilia, A; Cigliano, Ra; Barcelona, R; Visentin, D; Fasser, N; Arrighi, S; Figus, C; Marciani, G; Silvestrini, S; Bernardini, F; Menghi Sartorio, Jc; Fiorenza, L; Cecchi, Jm; Tuniz, C; Kivisild, T; Gianfrancesco, F; Peresani, M; Scheib, Cl; Talamo, S; D'Esposito, M; Benazzi, S
Identification of sixteen novel candidate genes for late onset Parkinson's disease 1-gen-2021 Gialluisi, A; Reccia, Mg; Modugno, N; Nutile, T; Lombardi, A; DI GIOVANNANTONIO, LUCA GIOVANNI; Pietracupa, S; Ruggiero, D; Scala, S; Gambardella, S; Iacoviello, L; Gianfrancesco, F; Acampora, D; D'Esposito, M; Simeone, A; Ciullo, M; Esposito, T
Modulation of endocannabinoid tone in osteoblastic differentiation of mc3t3-e1 cells and in mouse bone tissue over time 1-gen-2021 Kostrzewa M.; Mahmoud A.M.; Verde R.; Di Carlo F.S.; Gianfrancesco F.; Piscitelli F.; Ligresti A.
Novel autophagic vacuolar myopathies: Phenotype and genotype features 1-gen-2021 Napolitano, F; Terracciano, C; Bruno, G; De Blasiis, P; Lombardi, L; Gialluisi, A; Gianfrancesco, F; De Giovanni, D; Tummolo, A; Di Iorio, G; Limongelli, G; Esposito, T; Anna Beatrice Melone, M; Sampaolo, S
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone 1-gen-2020 Scotto di Carlo, F; Pazzaglia, L; Esposito, T; Gianfrancesco, F
The two faces of giant cell tumor of bone 1-gen-2020 Scotto di Carlo, F; Whyte, Mp; Gianfrancesco, F
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology 1-gen-2020 Scotto di Carlo, F; Pazzaglia, L; Mumm, S; Benassi, Ms; De Chiara, A; Franchi, A; Parafioriti, A; Righi, A; Esposito, T; Whyte, Mp; Gianfrancesco, F
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 1-gen-2019 Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone
Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. 1-gen-2018 Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, M G; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, M A B; Esposito, T; Sampaolo, S
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. 1-gen-2018 Silva, Iris A L; Conceicao, Natercia; Gagnon, Edith; Caiado, Helena; Brown, Jacques P; Gianfrancesco, Fernando; Michou, Laetitia; Leonor Cancela, M
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. 1-gen-2018 Alonso, N; Estrada, K; Albagha, Ome; Herrera, L; Reppe, S; Olstad, Ok; Gautvik, Km; Ryan, Nm; Evans, Kl; Nielson, Cm; Hsu, Yh; Kiel, Dp; Markozannes, G; Ntzani, Ee; Evangelou, E; Feenstra, B; Liu, X; Melbye, M; Masi, L; Brandi, Ml; Riches, P; Daroszewska, A; Olmos, Jm; Valero, C; Castillo, J; Riancho, Ja; Husted, Lb; Langdahl, Bl; Brown, Ma; Duncan, El; Kaptoge, S; Khaw, Kt; Usateguimartín, R; Del PinoMontes, J; Gonzálezsarmiento, R; Lewis, Jr; Prince, Rl; D'Amelio, P; Garcíagiralt, N; Nogués, X; Mencejbedrac, S; Marc, J; Wolstein, O; Eisman, Ja; Oei, L; Medinagómez, C; Schraut, Ke; Navarro, P; Wilson, Jf; Davies, G; Starr, J; Deary, I; Tanaka, T; Ferrucci, L; Gianfrancesco, F; Gennari, L; Lucas, G; Elosua, R; Uitterlinden, Ag; Rivadeneira, F; Ralston, Sh
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location 1-gen-2018 Scotto di Carlo, F; Divisato, G; Iacoangeli, M; Esposito, T; Gianfrancesco, F
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. 1-gen-2018 Divisato, G; di Carlo, Fs; Petrillo, N; Esposito, T; Gianfrancesco, F
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. 1-gen-2017 Esposito, Teresa; De Stefano, Giovanni; Reccia Mafalda, Giovanna; Di Lorenzo, Ilaria; Napolitano, Filomena; Scalabri, Francesco; Lombardi, Alessia; Saleem Moin, A; Griffiths Lyn, R; Gianfrancesco, Fernando
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. 1-gen-2017 Sampaolo, Simone; Napolitano, Filomena; Tirozzi, Alfonsina; Reccia Mafalda, Giovanna; Lombardi, Luca; Farina, Olimpia; Barra, Adriano; Cirillo, Ferdinando; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Iorio Giuseppe, Di; Esposito, Teresa
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences 1-gen-2017 Divisato, Giuseppina; Di Carlo, Federica Scotto; Pazzaglia, Laura; Rizzo, Riccardo; Coviello, Domenico A.; Benassi, Maria Serena; Picci, Piero; Esposito, Teresa; Gianfrancesco, Fernando
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers. 1-gen-2016 Rendina D; De Filippo G; Gianfrancesco F; Muscariello R; Schiano di Cola M; Strazzullo P; Esposito T.
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. 1-gen-2016 Divisato G; Formicola D; Esposito T; Merlotti D; Pazzaglia L; Del Fattore A; Siris E; Orcel P; Brown JP; Nuti R; Strazzullo P; Benassi MS; Cancela ML; Michou L; Rendina D; Gennari L; Gianfrancesco F.