Sfoglia per Autore
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
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
Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up
2023 Mattiucci, Alessandra; Girolomoni, Giampiero; Cassina, Matteo; Zoller, Thomas; Antoniazzi, Franco; Schena, Donatella
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.
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.
2023 Toldo, I; Brunello, F; Cavasin, P; Nosadini, M; Sartori, S; Frigo, Ac; Mai, R; Pelliccia, V; Mancardi, Mm; Striano, P; Severino, M; Zara, F; Rizzi, R; Casellato, S; Di Rosa, G; Mastrangelo, M; Spalice, A; Budetta, M; De Palma, L; Guerrini, R; Pruna, D; Cordelli, Dm; Sofia, V; Papa, A; Chiesa, V; Ragona, F; Parisi, P; D'Aniello, A; Veggiotti, P; Dainese, F; Giordano, L; Licchetta, L; Tinuper, P; D'Orsi, G; Cassina, M; Manara, R.
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)
2023 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
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
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
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
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
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants
2021 Morbidoni, V.; Baschiera, E.; Forzan, M.; Fumini, V.; Ali, D. S.; Giorgi, G.; Buson, L.; Desbats, M. A.; Cassina, M.; Clementi, M.; Salviati, L.; Trevisson, E.
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.
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
2021 Martini, Alessandro; Sorrentino, Flavia; Sorrentino, Ugo; Cassina, Matteo
Ondansetron should never be used in pregnancy: Against: Ondansetron in pregnancy revisited
2021 Damkier, P.; Kaplan, Y. C.; Shechtman, S.; Diav-Citrin, O.; Cassina, M.; Weber-Schoendorfer, C.; Cleary, B.; Hodson, K.
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.
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.
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
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
2020 Bryois, J.; Skene, N. G.; Hansen, T. F.; Kogelman, L. J. A.; Watson, H. J.; Liu, Z.; Adan, R.; Alfredsson, L.; Ando, T.; Andreassen, O.; Baker, J.; Bergen, A.; Berrettini, W.; Birgegard, A.; Boden, J.; Boehm, I.; Boni, C.; Boraska Perica, V.; Brandt, H.; Breen, G.; Bryois, J.; Buehren, K.; Bulik, C.; Burghardt, R.; Cassina, M.; Cichon, S.; Clementi, M.; Coleman, J.; Cone, R.; Courtet, P.; Crawford, S.; Crow, S.; Crowley, J.; Danner, U.; Davis, O.; de Zwaan, M.; Dedoussis, G.; Degortes, D.; Desocio, J.; Dick, D.; Dikeos, D.; Dina, C.; Dmitrzak-Weglarz, M.; Docampo Martinez, E.; Duncan, L.; Egberts, K.; Ehrlich, S.; Escaramis, G.; Esko, T.; Estivill, X.; Farmer, A.; Favaro, A.; Fernandez-Aranda, F.; Fichter, M.; Fischer, K.; Focker, M.; Foretova, L.; Forstner, A.; Forzan, M.; Franklin, C.; Gallinger, S.; Gaspar, H.; Giegling, I.; Giuranna, J.; Giusti-Rodriquez, P.; Gonidakis, F.; Gordon, S.; Gorwood, P.; Gratacos Mayora, M.; Grove, J.; Guillaume, S.; Guo, Y.; Hakonarson, H.; Halmi, K.; Hanscombe, K.; Hatzikotoulas, K.; Hauser, J.; Hebebrand, J.; Helder, S.; Henders, A.; Herms, S.; Herpertz-Dahlmann, B.; Herzog, W.; Hinney, A.; Horwood, L. J.; Hubel, C.; Huckins, L.; Hudson, J.; Imgart, H.; Inoko, H.; Janout, V.; Jimenez-Murcia, S.; Johnson, C.; Jordan, J.; Julia, A.; Jureus, A.; Kalsi, G.; Kaminska, D.; Kaplan, A.; Kaprio, J.; Karhunen, L.; Karwautz, A.; Kas, M.; Kaye, W.; Kennedy, J.; Kennedy, M.; Keski-Rahkonen, A.; Kiezebrink, K.; Kim, Y. -R.; Kirk, K.; Klareskog, L.; Klump, K.; Knudsen, G. P.; La Via, M.; Landen, M.; Larsen, J.; Le Hellard, S.; Leppa, V.; Levitan, R.; Li, D.; Lichtenstein, P.; Lilenfeld, L.; Lin, B. D.; Lissowska, J.; Luykx, J.; Magistretti, P.; Maj, M.; Mannik, K.; Marsal, S.; Marshall, C.; Martin, N.; Mattheisen, M.; Mattingsdal, M.; Mcdevitt, S.; Mcguffin, P.; Medland, S.; Metspalu, A.; Meulenbelt, I.; Micali, N.; Mitchell, J.; Mitchell, K.; Monteleone, P.; Monteleone, A. M.; Montgomery, G.; Mortensen, P. B.; Munn-Chernoff, M.; Nacmias, B.; Navratilova, M.; Norring, C.; Ntalla, I.; Olsen, C.; Ophoff, R.; O'Toole, J.; Padyukov, L.; Palotie, A.; Pantel, J.; Papezova, H.; Parker, R.; Pearson, J.; Pedersen, N.; Petersen, L.; Pinto, D.; Purves, K.; Rabionet, R.; Raevuori, A.; Ramoz, N.; Reichborn-Kjennerud, T.; Ricca, V.; Ripatti, S.; Ripke, S.; Ritschel, F.; Roberts, M.; Rotondo, A.; Rujescu, D.; Rybakowski, F.; Santonastaso, P.; Scherag, A.; Scherer, S.; Schmidt, U.; Schork, N.; Schosser, A.; Seitz, J.; Slachtova, L.; Slagboom, P. E.; Slof-Op 't Landt, M.; Slopien, A.; Sorbi, S.; Strober, M.; Stuber, G.; Sullivan, P.; Swiatkowska, B.; Szatkiewicz, J.; Tachmazidou, I.; Tenconi, E.; Thornton, L.; Tortorella, A.; Tozzi, F.; Treasure, J.; Tsitsika, A.; Tyszkiewicz-Nwafor, M.; Tziouvas, K.; van Elburg, A.; van Furth, E.; Wade, T.; Wagner, G.; Walton, E.; Watson, H.; Werge, T.; Whiteman, D.; Widen, E.; Woodside, D. B.; Yao, S.; Yilmaz, Z.; Zeggini, E.; Zerwas, S.; Zipfel, S.; Anttila, V.; Artto, V.; Belin, A. C.; de Boer, I.; Boomsma, D. I.; Borte, S.; Chasman, D. I.; Cherkas, L.; Christensen, A. F.; Cormand, B.; Cuenca-Leon, E.; Davey-Smith, G.; Dichgans, M.; van Duijn, C.; Esko, T.; Esserlind, A. L.; Ferrari, M.; Frants, R. R.; Freilinger, T.; Furlotte, N.; Gormley, P.; Griffiths, L.; Hamalainen, E.; Hansen, T. F.; Hiekkala, M.; Ikram, M. A.; Ingason, A.; Jarvelin, M. -R.; Kajanne, R.; Kallela, M.; Kaprio, J.; Kaunisto, M.; Kogelman, L. J. A.; Kubisch, C.; Kurki, M.; Kurth, T.; Launer, L.; Lehtimaki, T.; Lessel, D.; Ligthart, L.; Litterman, N.; Maagdenberg, A.; Macaya, A.; Malik, R.; Mangino, M.; Mcmahon, G.; Muller-Myhsok, B.; Neale, B. M.; Northover, C.; Nyholt, D. R.; Olesen, J.; Palotie, A.; Palta, P.; Pedersen, L.; Pedersen, N.; Posthuma, D.; Pozo-Rosich, P.; Pressman, A.; Raitakari, O.; Schurks, M.; Sintas, C.; Stefansson, K.; Stefansson, H.; Steinberg, S.; Strachan, D.; Terwindt, G.; Vila-Pueyo, M.; Wessman, M.; Winsvold, B. S.; Zhao, H.; Zwart, J. A.; Agee, M.; Alipanahi, B.; Auton, A.; Bell, R.; Bryc, K.; Elson, S.; Fontanillas, P.; Furlotte, N.; Heilbron, K.; Hinds, D.; Huber, K.; Kleinman, A.; Litterman, N.; Mccreight, J.; Mcintyre, M.; Mountain, J.; Noblin, E.; Northover, C.; Pitts, S.; Sathirapongsasuti, J.; Sazonova, O.; Shelton, J.; Shringarpure, S.; Tian, C.; Tung, J.; Vacic, V.; Wilson, C.; Brueggeman, L.; Breen, G.; Bulik, C. M.; Arenas, E.; Hjerling-Leffler, J.; Sullivan, P. F.
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy
2020 Morbidoni, V.; Agolini, E.; Slep, K. C.; Pannone, L.; Zuccarello, D.; Cassina, M.; Grosso, E.; Gai, G.; Salviati, L.; Dallapiccola, B.; Novelli, A.; Martinelli, S.; Trevisson, E.
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