Sfoglia per Autore
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
2019 Evans, D Gareth R; Kallionpää, Roope A; Clementi, Maurizio; Trevisson, Eva; Mautner, Victor-Felix; Howell, Sacha J; Lewis, Lauren; Zehou, Ouidad; Peltonen, Sirkku; Brunello, Antonella; Harkness, Elaine F; Wolkenstein, Pierre; Peltonen, Juha
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations
2019 Cassina, M.; Frizziero, L.; Opocher, E.; Parrozzani, R.; Sorrentino, U.; Viscardi, E.; Miglionico, G.; Midena, E.; Clementi, M.; Trevisson, E.
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells
2019 Cerqua, C.; Casarin, A.; Pierrel, F.; Vazquez Fonseca, L.; Viola, G.; Salviati, L.; Trevisson, E.
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas
2019 Trevisson, Eva; Morbidoni, Valeria; Forzan, Monica; Daolio, Cecilia; Fumini, Valentina; Parrozzani, Raffaele; Cassina, Matteo; Midena, Edoardo; Salviati, Leonardo; Clementi, Maurizio
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance
2019 Gelli, Elisa; Colombo, Mara; Pinto, Anna Maria; De Vecchi, Giovanna; Foglia, Claudia; Amitrano, Sara; Morbidoni, Valeria; Imperatore, Valentina; Manoukian, Siranoush; Baldassarri, Margherita; Lo Rizzo, Caterina; Catania, Lorenza; Frullanti, Elisa; Tagliafico, Enrico; Cortesi, Laura; Spaggiari, Federica; Mencarelli, Maria Antonietta; Trevisson, Eva; Radice, Paolo; Renieri, Alessandra; Ariani, Francesca
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype
2019 Po', C.; Zordan, R.; Vecchi, M.; Cerutti, A.; Sartori, S.; Trevisson, E.; Ludwig, K.; Castaldi, B.; Salviati, L.; Leoni, L.; Toldo, I.
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6
2019 Acosta Lopez, M. J.; Trevisson, E.; Canton, M.; Vazquez-Fonseca, L.; Morbidoni, V.; Baschiera, E.; Frasson, C.; Pelosi, L.; Rascalou, B.; Desbats, M. A.; Alcazar-Fabra, M.; Rios, J. J.; Sanchez-Garcia, A.; Basso, G.; Navas, P.; Pierrel, F.; Brea-Calvo, G.; Salviati, L.
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2
2018 Cerqua, Cristina; Morbidoni, Valeria; Desbats, Maria Andrea; Doimo, Mara; Frasson, Chiara; Sacconi, Sabrina; Baldoin, MARIA CRISTINA; Sartori, Geppo; Basso, Giuseppe; Salviati, Leonardo; Trevisson, Eva
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT Angiography
2018 Parrozzani, R.; Leonardi, F.; Frizziero, L.; Trevisson, E.; Clementi, M.; Pilotto, E.; Fusetti, S.; Miglionico, G.; Midena, E.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
2018 Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P.; Becker, Troy A.; Ben-Shachar, Shay; Bertola, Debora R.; Blakeley, Jaishri O.; Burkitt-Wright, Emma M. M.; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S.; Cunningham, Mitch; D'Agostino, Maria D.; Dahan, Karin; De Luca, Alessandro; Destrée, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D. Gareth R.; Galvin-Parton, Patricia; George-Abraham, Jaya K.; Gripp, Karen W.; Guevara-Campos, Jose; Hanchard, Neil A.; Hernández-Chico, Concepcion; Immken, Ladonna; Janssens, Sandra; Jones, Kristi J.; Keena, Beth A.; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J.; Maystadt, Isabelle; Mcdougall, Carey; Mcentagart, Meriel; Mendelsohn, Nancy; Miller, David T.; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R.; Pond, Dinel; Rosenbaum, Kenneth; Rubin, Karol; Russell, Laura; Rutledge, Lane S.; Saletti, Veronica; Schonberg, Rhonda; Schreiber, Allison; Seidel, Meredith; Siqveland, Elizabeth; Stockton, David W.; Trevisson, Eva; Ullrich, Nicole J.; Upadhyaya, Meena; van Minkelen, Rick; Verhelst, Helene; Wallace, Margaret R.; Yap, Yoon-Sim; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Martin, Yolanda; Korf, Bruce R.; Legius, Eric; Messiaen, Ludwine M.
Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1
2018 Cassina, M; Bottesi, G; Trevisson, E; Zuccarello, D; Vidotto, G; Spoto, A; Clementi, M
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function
2018 Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo
Clinical syndromes associated with Coenzyme Q10 deficiency.
2018 Alcázar-Fabra, Maria; Trevisson, Eva; Brea-Calvo, Gloria
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
2018 Cameron-Christie, Sophia R.; Wells, Constance F.; Simon, Marleen; Wessels, Marja; Tang, Candy Z. N.; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O.; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E.; Cassina, Matteo; Ludkig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M.; Jenkins, Zandra A.; Robertson, Stephen P.
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration
2018 Parrozzani, Raffaele; Leonardi, Francesca; Frizziero, Luisa; Trevisson, Eva; Clementi, Maurizio; Pilotto, Elisabetta; Fusetti, Stefano; Miglionico, Giacomo; Midena, Edoardo
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
2018 Imperatore, Valentina; Pinto, Anna Maria; Gelli, Elisa; Trevisson, Eva; Morbidoni, Valeria; Frullanti, Elisa; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Gusson, Elena; Roversi, Gaia; Accogli, Andrea; Capra, Valeria; Mencarelli, Maria Antonietta; Renieri, Alessandra; Ariani, Francesca
Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma
2018 Parrozzani, Raffaele; Miglionico, Giacomo; Leonardi, Francesca; Pulze, Serena; Trevisson, Eva; Clementi, Maurizio; Opocher, Enrico; Licata, Viviana; Viscardi, Elisabetta; Pilotto, Elisabetta; Frizziero, Luisa; Midena, Edoardo
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.
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.
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. .
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