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TREVISSON, EVA

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Pubblicazioni (Tutti)

Risultati 1 - 20 di 73 (tempo di esecuzione: 0.0 secondi).

	Titolo	Data di pubblicazione	Autori	Rivista	Titolo libro
1	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	MOLECULAR GENETICS & GENOMIC MEDICINE
2	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	CANCERS
3	Vitamin K2 cannot substitute Coenzyme Q 10 as electron carrier in the mitochondrial respiratory chain of mammalian cells	2019	CERQUA, CRISTINA ; Casarin A.; Pierrel F.; Vazquez Fonseca L.; VIOLA, GIAMPIETRO ; SALVIATI, LEONARDO ; TREVISSON, EVA	SCIENTIFIC REPORTS
4	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	GENETICS IN MEDICINE
5	Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6	2019	Acosta Lopez M. J.; TREVISSON, EVA ; Canton M.; Vazquez-Fonseca L.; MORBIDONI, VALERIA ; BASCHIERA, ELISA ; Frasson C.; Pelosi L.; Rascalou B.; DESBATS, MARIA ANDREA ; Alcazar-Fabra M.; Rios J. J.; Sanchez-Garcia A.; Basso G.; Navas P.; Pierrel F.; Brea-Calvo G.; SALVIATI, LEONARDO	OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
6	Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells	2019	CERQUA, CRISTINA ; Alberto Casarin; Fabien Pierrel; Luis Vazquez Fonseca; Giampiero Viola; SALVIATI, LEONARDO ; TREVISSON, EVA	SCIENTIFIC REPORTS
7	Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations	2019	CASSINA, MATTEO ; FRIZZIERO, LUISA ; Opocher E.; PARROZZANI, RAFFAELE ; SORRENTINO, UGO ; VISCARDI, ELISABETTA ; MIGLIONICO, GIACOMO ; MIDENA, EDOARDO ; CLEMENTI, MAURIZIO ; TREVISSON, EVA	CANCERS
8	Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement	2019	BOTTESI, GIOIA ; SPOTO, ANDREA ; TREVISSON, EVA ; Zuccarello D.; VIDOTTO, GIULIO ; CASSINA, MATTEO ; CLEMENTI, MAURIZIO	BRITISH JOURNAL OF DERMATOLOGY
9	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	HUMAN MUTATION
10	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.	AMERICAN JOURNAL OF HUMAN GENETICS
11	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	EUROPEAN JOURNAL OF HUMAN GENETICS
12	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.	AMERICAN JOURNAL OF HUMAN GENETICS
13	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	BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
14	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	ACTA OPHTHALMOLOGICA
15	Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1	2018	CASSINA, MATTEO ; BOTTESI, GIOIA ; TREVISSON, EVA ; ZUCCARELLO, DANIELA ; VIDOTTO, GIULIO ; SPOTO, ANDREA ; CLEMENTI, MAURIZIO		Atti del 2018 Joint Global Neurofibromatosis Conference
16	Clinical syndromes associated with Coenzyme Q10 deficiency.	2018	Alcázar-Fabra Maria; TREVISSON, EVA ; Brea-Calvo Gloria	ESSAYS IN BIOCHEMISTRY
17	Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT Angiography	2018	PARROZZANI, RAFFAELE ; LEONARDI, FRANCESCA ; FRIZZIERO, LUISA ; TREVISSON, EVA ; CLEMENTI, MAURIZIO ; PILOTTO, ELISABETTA ; FUSETTI, STEFANO ; MIGLIONICO, GIACOMO ; MIDENA, EDOARDO	OPHTHALMOLOGY RETINA
18	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	OPHTHALMOLOGY RETINA
19	Numerical activities of daily living in adults with neurofibromatosis type 1	2017	Burgio, F.; BENAVIDES VARELA, SILVIA ELENA ; ARCARA, GIORGIO ; TREVISSON, EVA ; FRIZZIERO, DANIELA ; CLEMENTI, MAURIZIO ; SEMENZA, CARLO	JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
20	Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?	2017	SPEROTTO, FRANCESCA ; BISOGNO, GIANNI ; OPOCHER, ENRICO ; Rossi, S.; Rigon, C.; TREVISSON, EVA ; MERCOLINI, FEDERICO	CLINICAL GENETICS

Dettaglio

Nome completo:

TREVISSON, EVA

struttura:

Dipartimento di Salute della Donna e del Bambino - SDB

settore SSD:

Settore MED/03 - Genetica Medica