Publications by authors named "Eva Trevisson"

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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, Chiara Iacovino, Chiara Canciani, Eva Trevisson

Breast· December 2025

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A novel germline splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response.
Enrico Berrino, Sara Erika Bellomo, Luca Mastorino, Valeria Morbidoni, Nicola Crosetto, Eva Trevisson

Pathologica· September 2025

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Identification of a new spliceogenic variant causing severe primary coenzyme Q deficiency.
María Alcázar-Fabra, Elsebet Østergaard, Daniel J M Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Eva Trevisson

Mol Genet Metab Rep· March 2025

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Eva Trevisson

Genet Med· November 2024

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Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.
Valentina Melfi, Tasnim Mohamed, Alessandra Colciago, Alessandra Fasciani, Raffaele De Francesco, Eva Trevisson

Heliyon· October 2024

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Katherine A Wood, R Spencer Tong, Marialetizia Motta, Viviana Cordeddu, Eleanor R Scimone, Eva Trevisson

Am J Hum Genet· September 2024

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Eva Trevisson

Eur J Hum Genet· August 2024

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A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori

Eur J Hum Genet· July 2024

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C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
Anais Franco-Romero, Valeria Morbidoni, Giulia Milan, Roberta Sartori, Jesper Wulff, Eva Trevisson

J Clin Invest· June 2024

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Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX.
Linda Rossini, Claudia Maria Bonardi, Silvia Bresolin, Eva Trevisson, Antonio Marzollo

J Clin Immunol· April 2024

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A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature.
Tito Brambullo, Alberto De Lazzari, Arianna Franchi, Eva Trevisson, Maria Luisa Garau

J Clin Med· April 2024

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COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.
Ludovic Pelosi, Laura Morbiato, Arthur Burgardt, Fiorella Tonello, Abigail K Bartlett, Eva Trevisson

Mol Cell· March 2024

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COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells.
Ludovic Pelosi, Laura Morbiato, Arthur Burgardt, Fiorella Tonello, Abigail K Bartlett, Eva Trevisson

bioRxiv· November 2023

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Two novel compound heterozygous mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
Elisabetta Pilotto, Eva Trevisson, Elisabetta Beatrice Nacci, Evelyn Longhin, Francesca Guidolin

Eur J Ophthalmol· November 2022

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Ambra1 deficiency impairs mitophagy in skeletal muscle.
Lisa Gambarotto, Samuele Metti, Martina Chrisam, Cristina Cerqua, Patrizia Sabatelli, Eva Trevisson

J Cachexia Sarcopenia Muscle· August 2022

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Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.
Eleonora Cosmo, Luisa Frizziero, Giacomo Miglionico, Chiara Sofia De Biasi, Marisa Bruno, Eva Trevisson

Cancers (Basel)· March 2022

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The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
Denis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, Leonardo Salviati, Eva Trevisson

Int J Mol Sci· February 2022

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Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.
Ugo Sorrentino, Silvia Bellonzi, Chiara Mozzato, Valeria Brasson, Irene Toldo, Eva Trevisson

Cancers (Basel)· December 2021

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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study.
Diana Corallo, Carlo Zanon, Marcella Pantile, Gian Paolo Tonini, Angelica Zin, Eva Trevisson

Cells· October 2021

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DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson

Audiol Res· October 2021

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RETINAL VASCULAR ABNORMALITIES RELATED TO NEUROFIBROMATOSIS TYPE 1: Natural History and Classification by Optical Coherence Tomography Angiography in 473 Patients.
Raffaele Parrozzani, Luisa Frizziero, Sara Trainiti, Andrea Calciati, Davide Londei, Eva Trevisson

Retina· May 2021

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Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations.
María Alcázar-Fabra, Francisco Rodríguez-Sánchez, Eva Trevisson, Gloria Brea-Calvo

Free Radic Biol Med· May 2021

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Wilms tumor in patients with osteopathia striata with cranial sclerosis.
Alicia Bach, Jingyi Mi, Matthew Hunter, Benjamin J Halliday, Sixto García-Miñaúr, Eva Trevisson

Eur J Hum Genet· March 2021

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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of Variants.
Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini, Dario Seif Ali, Eva Trevisson

Cancers (Basel)· February 2021

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