Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Eva, Trevisson"'
Autor:
Tito Brambullo, Alberto De Lazzari, Arianna Franchi, Eva Trevisson, Maria Luisa Garau, Federico Scarmozzino, Vincenzo Vindigni, Franco Bassetto
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 8, p 2240 (2024)
Aim of the report: Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progre
Externí odkaz:
https://doaj.org/article/811dbdb52df543d5a199cd8de3643e4d
Autor:
Lisa Gambarotto, Samuele Metti, Martina Chrisam, Cristina Cerqua, Patrizia Sabatelli, Andrea Armani, Carlo Zanon, Marianna Spizzotin, Silvia Castagnaro, Flavie Strappazzon, Paolo Grumati, Matilde Cescon, Paola Braghetta, Eva Trevisson, Francesco Cecconi, Paolo Bonaldo
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 4, Pp 2211-2224 (2022)
Abstract Background Maintaining healthy mitochondria is mandatory for muscle viability and function. An essential surveillance mechanism targeting defective and harmful mitochondria to degradation is the selective form of autophagy called mitophagy.
Externí odkaz:
https://doaj.org/article/20e28c3148de45fc84c282fe3f3670ae
Autor:
Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto, Alessandro Martini, Matteo Cassina
Publikováno v:
Audiology Research, Vol 11, Iss 4, Pp 582-593 (2021)
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26.
Externí odkaz:
https://doaj.org/article/1d73004211ad428e95e8f38338a17aad
Autor:
Eleonora Cosmo, Luisa Frizziero, Giacomo Miglionico, Chiara Sofia De Biasi, Marisa Bruno, Eva Trevisson, Ilaria Gabbiato, Giulia Midena, Raffaele Parrozzani
Publikováno v:
Cancers, Vol 14, Iss 6, p 1423 (2022)
The purpose of this study was to assess the long-term natural history of choroidal abnormalities (CAs) in a large pediatric neurofibromatosis type 1 (NF1) population, quantifying their progression in number and dimensions. Pediatric patients (p < 0.0
Externí odkaz:
https://doaj.org/article/24ee656f9dcb49758f7b8e8ec80d7d40
Autor:
Denis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, Leonardo Salviati, Eva Trevisson, Anna Raffaello
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 5, p 2517 (2022)
Alternative splicing, the process by which exons within a pre-mRNA transcript are differentially joined or skipped, is crucial in skeletal muscle since it is required both during myogenesis and in post-natal life to reprogram the transcripts of contr
Externí odkaz:
https://doaj.org/article/29124d73ace84cbfaeb089fee7e8cbe5
Autor:
Ugo Sorrentino, Silvia Bellonzi, Chiara Mozzato, Valeria Brasson, Irene Toldo, Raffaele Parrozzani, Maurizio Clementi, Matteo Cassina, Eva Trevisson
Publikováno v:
Cancers, Vol 13, Iss 24, p 6336 (2021)
An increased lifetime risk of epilepsy has been reported in neurofibromatosis type 1 (NF1) patients, ranging between 4% and 14%. To further analyze the correlation between NF1 and epilepsy, we retrospectively reviewed the epidemiologic, clinical, rad
Externí odkaz:
https://doaj.org/article/a2b613627a9f48959da1be0f9150219a
Autor:
Diana Corallo, Carlo Zanon, Marcella Pantile, Gian Paolo Tonini, Angelica Zin, Samuela Francescato, Bartolomeo Rossi, Eva Trevisson, Claudia Pinato, Ezequiel Monferrer, Rosa Noguera, Salvador F. Aliño, Maria Jose Herrero, Alessandra Biffi, Elisabetta Viscardi, Sanja Aveic
Publikováno v:
Cells, Vol 10, Iss 10, p 2695 (2021)
Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has
Externí odkaz:
https://doaj.org/article/cea41b196d8a41d29832e914c9c1ba55
Autor:
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh
Publikováno v:
Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins
PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in gen
Autor:
Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini, Dario Seif Ali, Gianpietro Giorgi, Lisa Buson, Maria Andrea Desbats, Matteo Cassina, Maurizio Clementi, Leonardo Salviati, Eva Trevisson
Publikováno v:
Cancers, Vol 13, Iss 5, p 999 (2021)
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains importan
Externí odkaz:
https://doaj.org/article/34f83f27538e4374b1a5bc2b2e1eab13
Autor:
Eva Trevisson, Alessandro Martini, Valeria Brasson, Chiara Rigon, Ugo Sorrentino, Matteo Cassina, Francesca Boaretto, Chiara Piccolo
Publikováno v:
Audiology Research
Audiology Research, Vol 11, Iss 52, Pp 582-593 (2021)
Audiology Research, Vol 11, Iss 52, Pp 582-593 (2021)
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26.