Sfoglia per Autore
Alport syndrome: impact of digenic inheritance in patients management.
2017 Fallerini, C; Baldassarri, M; Trevisson, Eva; Morbidoni, Valeria; La Manna, A; Lazzarin, R; Pasini, A; Barbano, G; Pinciaroli, Ar; Garosi, G; Frullanti, E; Pinto, Am; Mencarelli, Ma; Mari, F; Renieri, A; Ariani, F. .
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.
2017 Cassina, Matteo; Cerqua, Cristina; Rossi, Silvia; Salviati, Leonardo; Martini, Alessandro; Clementi, Maurizio; Trevisson, Eva
Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?
2017 Sperotto, F.; Bisogno, G.; Opocher, E.; Rossi, S.; Rigon, C.; Trevisson, E.; Mercolini, F.
Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants.
2017 Gigante, M; Diella, S; Santangelo, L; Trevisson, Eva; Acosta, Mj; Amatruda, M; Finzi, G; Caridi, G; Murer, L; Accetturo, M; Ranieri, E; Ghiggeri, Gm; Giordano, M; Grandaliano, G; Salviati, Leonardo; Gesualdo, L.
Numerical activities of daily living in adults with neurofibromatosis type 1
2017 Burgio, F.; Benavides-Varela, S.; Arcara, G.; Trevisson, E.; Frizziero, D.; Clementi, M.; Semenza, C.
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency
2016 Andrea Desbats, Maria; Morbidoni, Valeria; SILIC-BENUSSI, Micol; Doimo, Mara; Ciminale, Vincenzo; Cassina, Matteo; Sacconi, Sabrina; Hirano, Michio; Basso, Giuseppe; Pierrel, Fabien; Navas, Placido; Salviati, Leonardo; Trevisson, Eva
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
2016 Yubero, ; Montero, R; Martín, Ma; Montoya, J; Ribes, A; Grazina, M; Trevisson, Eva; Rodriguez Aguilera, Jc; Hargreaves, Ip; Salviati, Leonardo; Navas, P; Artuch, R; CoQ deficiency study, Group; Jou, C; Jimenez Mallebrera, C; Nascimento, A; Pérez Dueñas, B; Ortez C, Ramos F; Colomer, J; O'Callaghan, M; Pineda, M; García Cazorla, A; Espinós, C; Ruiz, A; Macaya, A; Marcé Grau, A; Garcia Villoria, J; Arias, A; Emperador, S; Ruiz Pesini, E; Lopez Gallardo, E; Neergheen, V; Simões, M; Diogo, L; Blázquez, A; González Quintana, A; Delmiro, A; Domínguez González, C; Arenas, J; García Silva, Mt; Martín, E; Quijada, P; Hernández Laín, A; Morán, M; Rivas Infante, E; Ávila Polo, R; Paradas Lópe, C; Bautista Lorite, J; Martínez Fernández, Em; Cortés, Ab; Sánchez Cuesta, A; Cascajo, Mv; Alcázar, M; Brea Calvo, G.
Coenzyme Q biosynthesis in health and disease
2016 Acosta, Manuel Jesús; Vazquez Fonseca, Luis; Desbats, MARIA ANDREA; Cerqua, Cristina; Zordan, Roberta; Trevisson, Eva; Salviati, Leonardo
Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1
2016 Lucchetta, Marta; Manara, Renzo; Perilongo, Giorgio; Clementi, Maurizio; Trevisson, Eva
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
2015 Desbats, Ma; Vetro, A; Limongelli, I; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, G; Burlina, Alberto; Rodriguez Hernandez, Ma; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, P; Zuffardi, O; Salviati, Leonardo
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans
2015 Doimo, Mara; Lopreiato, Raffaele; Basso, Valentina; Bortolotto, Raissa; Tessa, Alessandra; Santorelli, Filippo M; Trevisson, Eva; Salviati, Leonardo
In vivo detection of Choroidal abnormalities related to NF1: Feasibility and comparison with standard NIH diagnostic criteria in pediatric patients
2015 Parrozzani, Raffaele; Clementi, Maurizio; Frizziero, Luisa; Miglionico, Giacomo; Perrini, Pierdavide; Cavarzeran, Fabiano; Kotsafti, Olympia; Comacchio, Francesco; Trevisson, Eva; Convento, Enrica; Fusetti, Stefano; Midena, Edoardo
Is there a link between COQ6 and schwannomatosis?
2015 Trevisson, Eva; Clementi, Maurizio; Salviati, Leonardo
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome
2015 Trevisson, Eva; Ludwig, Kathrin; Alberto, Casarin; Annamaria Di Meglio, ; Nella Augusta Greggio, ; Manara, Renzo; Elisabetta, Lenzini; Clementi, Maurizio; Salviati, Leonardo
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
2015 Giorgi, G; Casarin, Alberto; Trevisson, Eva; Donà, M; Cassina, Matteo; Graziano, C; Picci, L; Clementi, Maurizio; Salviati, Leonardo
Molecular Genetics of Argininosuccinic Aciduria
2014 Trevisson, Eva; Doimo, Mara; Salviati, Leonardo
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
2014 Paganini, I; Chang, Vy; Capone, Gl; Vitte, J; Benelli, M; Barbetti, L; Sestini, R; Trevisson, Eva; Hulsebos, Tj; Giovannini, M; Nelson, Sf; Papi, L.
Genetics of coenzyme q10 deficiency.
2014 Doimo, Mara; Desbats, MARIA ANDREA; Cerqua, C; Cassina, Matteo; Trevisson, Eva; Salviati, Leonardo
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
2014 Desbats, MARIA ANDREA; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo
Neurofibromatosis type 1 in two siblings due to Maternal Germline Mosaicism.
2014 Trevisson, Eva; M., Forzan; Salviati, Leonardo; Clementi, Maurizio
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