CASSINA, MATTEO
CASSINA, MATTEO
Dipartimento di Salute della Donna e del Bambino - SDB
Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review
2025 Ferasin, Veronica; Raicich, Arianna; Ancora, Caterina; Bonemazzi, Ilaria; Di Paola, Alessandro; D'Errico, Ignazio; Nosadini, Margherita; Ancona, Claudio; Pelizza, Maria Federica; Cassina, Matteo; Toldo, Irene
Optimising diagnosis in children with short stature: an integrated clinical and NGS approach
2025 Guazzarotti, Laura; Mozzato, Chiara; Zoletto, Silvia; Boaretto, Francesca; Rigon, Chiara; Cassina, Matteo
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
2025 Di Giosaffatte, N.; Daniele, P.; Petrizzelli, F.; Iacovino, C.; Canciani, C.; Garau, M. L.; Santoro, C.; Trevisan, V.; Panfili, A.; Cavone, S.; Guida, V.; D'Asdia, M. C.; Bernardini, L.; Majore, S.; Ferraris, A.; Valiante, M.; Gensini, F.; Radio, F. C.; Tortora, G.; Cassina, M.; Miele, G.; Priolo, M.; Sirchia, F.; Piccinno, L.; Flex, E.; Zampino, G.; Genuardi, M.; Nigro, V.; Salviati, L.; Papi, L.; Grammatico, P.; Leoni, C.; Piluso, G.; Giustini, S.; Mazza, T.; Upadhyaya, M.; Tartaglia, M.; Trevisson, E.; De Luca, A.
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
2024 Sorrentino, Ugo; Baschiera, Elisa; Desbats, Maria Andrea; Zuffardi, Orsetta; Salviati, Leonardo; Cassina, Matteo
Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS)
2024 Onken, Marlies; Lohse, Lukas; Coulm, Bénédicte; Beghin, Delphine; Richardson, Jonathan L; Bermejo-Sánchez, Eva; Aguilera, Cristina; Bosch, Montserrat; Cassina, Matteo; Chouchana, Laurent; De Santis, Marco; Duman, Mine Kadioglu; Gören, M Zafer; Johnson, Diana; Bera, Annie Pierre Jonville; Kaplan, Yusuf C; Kennedy, Debra; Kwok, Susan; Lacroix, Isabelle; Lepelley, Marion; Pistelli, Alessandra; Schaefer, Christof; Te Winkel, Bernke; Uysal, Nusret; Winterfeld, Ursula; Yakuwa, Naho; Diav-Citrin, Orna; Vial, Thierry; Dathe, Katarina
The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study
2024 Guarneri, Cristina; Reschini, Marco; Pinna, Monica; Perego, Lucia; Sanzani, Elena; Somigliana, Edgardo; Sorrentino, Ugo; Cassina, Matteo; Zuccarello, Daniela; Ciaffaglione, Marta
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report
2023 Salerno, Annalisa; Zanin, Anna; Cassina, Matteo; Benini, Franca
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report
2023 Salerno, Annalisa; Zanin, Anna; Cassina, Matteo; Benini, Franca
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
2023 Toldo, Irene; Brunello, Francesco; Cavasin, Paola; Nosadini, Margherita; Sartori, Stefano; Frigo, ANNA CHIARA; Mai, Roberto; Pelliccia, Veronica; Margherita Mancardi, Maria; Striano, Pasquale; Severino, Marisavina; Zara, Federico; Rizzi, Romana; Casellato, Susanna; Di Rosa, Gabriella; Mastrangelo, Mario; Spalice, Alberto; Budetta, Mauro; De Palma, Luca; Guerrini, Renzo; Pruna, Dario; Maria Cordelli, Duccio; Sofia, Vito; Papa, Amanda; Chiesa, Valentina; Ragona, Francesca; Parisi, Pasquale; D'Aniello, Alfredo; Veggiotti, Pierangelo; Dainese Lucio Giordano, Filippo; Licchetta, Laura; Tinuper, Paolo; D'Orsi, Giuseppe; Cassina, Matteo; Manara, Renzo
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
2023 Sorrentino, U.; Gabbiato, I.; Canciani, C.; Calosci, D.; Rigon, C.; Zuccarello, D.; Cassina, M.
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
2023 Sorrentino, Ugo; Agosto, Caterina; Benini, Franca; Bertolin, Cinzia; Cassina, Matteo; Bonadies, Luca; Caroppo, Francesca; Fortina, Anna Belloni; Salviati, Leonardo
Epigenetics of pregnancy: looking beyond the DNA code
2022 Zuccarello, D.; Sorrentino, U.; Brasson, V.; Marin, L.; Piccolo, C.; Capalbo, A.; Andrisani, A.; Cassina, M.
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
2022 Cacciatori, Elena; Aleo, Sebastiano; Scuvera, Giulietta; Rigon, Chiara; Marchisio, Paola Giovanna; Cassina, Matteo; Milani, Donatella
The risk of questioning the safety of drugs considered safe in pregnancy at the era of big data: the everlasting case of doxylamine
2022 Panchaud, Alice; Cleary, Brian; Weber-Schoendorfer, Corinna; Shechtman, Svetlana; Cassina, Matteo; Diav-Citrin, Orna; Damkier, Per
Craniosynostosis is a feature of CHD7-related CHARGE syndrome
2021 De Luca, C.; Picone, S.; Cassina, M.; Marziali, S.; Morlino, S.; Camerota, L.; Tamburrini, G.; Castori, M.; Paolillo, P.; Salviati, L.; Brancati, F.
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
2021 Sorrentino, U; Piccolo, C; Rigon, C; Brasson, V; Trevisson, E; Boaretto, F; Martini, A; Cassina, M
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients
2021 Sorrentino, U.; Bellonzi, S.; Mozzato, C.; Brasson, V.; Toldo, I.; Parrozzani, R.; Clementi, M.; Cassina, M.; Trevisson, E.
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
2021 Martini, Alessandro; Sorrentino, Flavia; Sorrentino, Ugo; Cassina, Matteo
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations
2021 Anglani, Franca; Salviati, Leonardo; Cassina, Matteo; Rigato, Matteo; Gobbi, Laura; Calo', Lorenzo
Handle with care — interpretation, synthesis and dissemination of data on paracetamol in pregnancy
2021 Damkier, P.; Cleary, B.; Weber-Schoendorfer, C.; Shechtman, S.; Cassina, M.; Panchaud, A.; Diav-Cirtin, O.