Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Matteo Cassina"'
Autor:
Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost half of cases; copy
Externí odkaz:
https://doaj.org/article/8030015ccf53465ba0ce88cd1561ec68
Autor:
Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena
Publikováno v:
Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old gi
Externí odkaz:
https://doaj.org/article/7c9ba5a760a44343a65d0f6f8ac4d05d
Publikováno v:
Audiology Research, Vol 11, Iss 4, Pp 629-635 (2021)
Hearing loss (HL) is one of the most common sensory impairments worldwide and represents a critical medical and public health issue. Since the mid-1900s, great efforts have been aimed at understanding the etiology of both syndromic and non-syndromic
Externí odkaz:
https://doaj.org/article/673e18410f5b4f6db80e027a73bb897d
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:
Alessandro Martini, Matteo Cassina
Publikováno v:
Audiology Research, Vol 11, Iss 4, Pp 636-638 (2021)
The Special Issue “Genetics of hearing loss” is dedicated to Victor A [...]
Externí odkaz:
https://doaj.org/article/3af56cc238e54ac7951c37bc35d706e9
Autor:
Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, on behalf of ERN ITHACA
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management
Externí odkaz:
https://doaj.org/article/d1bebb0fda4546c08ace4997751a80ac
Autor:
Alessandro Martini, Matteo Cassina
Publikováno v:
Audiology Research, Vol 12, Iss 1, Pp 95-95 (2022)
In the original article [...]
Externí odkaz:
https://doaj.org/article/edd381f710314d71b6c2f5ca12b0e047
Autor:
Irene Sola, Elisabet Viayna, Tània Gómez, Carles Galdeano, Matteo Cassina, Pelayo Camps, Margherita Romeo, Luisa Diomede, Mario Salmona, Pilar Franco, Mireille Schaeffer, Diego Colantuono, David Robin, Daniela Brunner, Nicole Taub, Birgit Hutter-Paier, Diego Muñoz-Torrero
Publikováno v:
Molecules, Vol 20, Iss 3, Pp 4492-4515 (2015)
We describe the multigram synthesis and in vivo efficacy studies of a donepezil‒huprine hybrid that has been found to display a promising in vitro multitarget profile of interest for the treatment of Alzheimer’s disease (AD). Its synthesis featur
Externí odkaz:
https://doaj.org/article/07c01f55a50348b5a7e8cec7faab37ec
Autor:
Irene Toldo, Francesco Brunello, Paola Cavasin, Margherita Nosadini, Stefano Sartori, Anna Chiara Frigo, Roberto Mai, Veronica Pelliccia, Maria Margherita Mancardi, Pasquale Striano, Marisavina Severino, Federico Zara, Romana Rizzi, Susanna Casellato, Gabriella Di Rosa, Mario Mastrangelo, Alberto Spalice, Mauro Budetta, Luca De Palma, Renzo Guerrini, Dario Pruna, Duccio Maria Cordelli, Vito Sofia, Amanda Papa, Valentina Chiesa, Francesca Ragona, Pasquale Parisi, Alfredo D'Aniello, Pierangelo Veggiotti, Filippo Dainese, Lucio Giordano, Laura Licchetta, Paolo Tinuper, Giuseppe D'Orsi, Matteo Cassina, Renzo Manara
Publikováno v:
Pediatric Neurology. 141:58-64
Autor:
Daniela Zuccarello, Ugo Sorrentino, Valeria Brasson, Loris Marin, Chiara Piccolo, Antonio Capalbo, Alessandra Andrisani, Matteo Cassina
Publikováno v:
Journal of Assisted Reproduction and Genetics. 39:801-816
Epigenetics is the branch of genetics that studies the different mechanisms that influence gene expression without direct modification of the DNA sequence. An ever-increasing amount of evidence suggests that such regulatory processes may play a pivot