Sfoglia per Autore
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
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.
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
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
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
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.
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
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.
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.
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.
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.
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
2021 Martini, Alessandro; Sorrentino, Flavia; Sorrentino, Ugo; Cassina, Matteo
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
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.
Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement
2020 Bottesi, G.; Spoto, A.; Trevisson, E.; Zuccarello, D.; Vidotto, G.; Cassina, M.; Clementi, M.
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
2020 Munn-Chernoff, Ma; Johnson, Ec; Chou, Yl; Coleman, Jri; Thornton, Lm; Walters, Rk; Yilmaz, Z; Baker, Jh; Hubel, C; Gordon, S; Medland, Se; Watson, Hj; Gaspar, Ha; Bryois, J; Hinney, A; Leppa, Vm; Mattheisen, M; Ripke, S; Yao, Sy; Giusti-Rodriguez, P; Hanscombe, Kb; Adan, Rah; Alfredsson, L; Ando, T; Andreassen, Oa; Berrettini, Wh; Boehm, I; Boni, C; Perica, Vb; Buehren, K; Burghardt, R; Cassina, M; Cichon, S; Clementi, M; Cone, Rd; Courtet, P; Crow, S; Crowley, Jj; Danner, Un; Davis, Osp; de Zwaan, M; Dedoussis, G; Degortes, D; Desocio, Je; Dick, Dm; Dikeos, D; Dina, C; Dmitrzak-Weglarz, M; Docampo, E; Duncan, Le; Egberts, K; Ehrlich, S; Escaramis, G; Esko, T; Estivill, X; Farmer, A; Favaro, A; Fernandez-Aranda, F; Fichter, Mm; Fischer, K; Focker, M; Foretova, L; Forstner, Aj; Forzan, M; Franklin, Cs; Gallinger, S; Giegling, I; Giuranna, J; Gonidakis, F; Gorwood, P; Mayora, Mg; Guillaume, S; Guo, Yr; Hakonarson, H; Hatzikotoulas, K; Hauser, J; Hebebrand, J; Helder, Sg; Herms, S; Herpertz-Dahlmann, B; Herzog, W; Huckins, Lm; Hudson, Ji; Imgart, H; Inoko, H; Janout, V; Jimenez-Murcia, S; Julia, A; Kalsi, G; Kaminska, D; Karhunen, L; Karwautz, A; Kas, Mjh; Kennedy, Jl; Keski-Rahkonen, A; Kiezebrink, K; Kim, Yr; Klump, Kl; Knudsen, Gps; La Via, Mc; Le Hellard, S; Levitan, Rd; Li, D; Lilenfeld, L; Lin, Bd; Lissowska, J; Luykx, J; Magistretti, Pj; Maj, M; Mannik, K; Marsal, S; Marshall, Cr; Mattingsdal, M; Mcdevitt, S; Mcguffin, P; Metspalu, A; Meulenbelt, I; Micali, N; Mitchell, K; Monteleone, Am; Monteleone, P; Nacmias, B; Navratilova, M; Ntalla, I; O'Toole, Jk; Ophoff, Ra; Padyukov, L; Palotie, A; Pantel, J; Papezova, H; Pinto, D; Rabionet, R; Raevuori, A; Ramoz, N; Reichborn-Kjennerud, T; Ricca, V; Ripatti, S; Ritschel, F; Roberts, M; Rotondo, A; Rujescu, D; Rybakowski, F; Santonastaso, P; Scherag, A; Scherer, Sw; Schmidt, U; Schork, Nj; Schosser, A; Seitz, J; Slachtova, L; Slagboom, Pe; Landt, Mctso; Slopien, A; Sorbi, S; Swiatkowska, B; Szatkiewicz, Jp; Tachmazidou, I; Tenconi, E; Tortorella, A; Tozzi, F; Treasure, J; Tsitsika, A; Tyszkiewicz-Nwafor, M; Tziouvas, K; van Elburg, Aa; van Furth, Ef; Wagner, G; Walton, E; Widen, E; Zeggini, E; Zerwas, S; Zipfel, S; Bergen, Aw; Boden, Jm; Brandt, H; Crawford, S; Halmi, Ka; Horwood, Lj; Johnson, C; Kaplan, As; Kaye, Wh; Mitchell, J; Olsen, Cm; Pearson, Jf; Pedersen, Nl; Strober, M; Werge, T; Whiteman, Dc; Woodside, Db; Grove, J; Henders, Ak; Larsen, Jt; Parker, R; Petersen, Lv; Jordan, J; Kennedy, Ma; Birgegard, A; Lichtenstein, P; Norring, C; Landen, M; Mortensen, Pb; Polimanti, R; Mcclintick, Jn; Adkins, Ae; Aliev, F; Bacanu, Sa; Batzler, A; Bertelsen, S; Biernacka, Jm; Bigdeli, Tb; Chen, Ls; Clarke, Tk; Degenhardt, F; Docherty, Ar; Edwards, Ac; Foo, Jc; Fox, L; Frank, J; Hack, Lm; Hartmann, Am; Hartz, Sm; Heilmann-Heimbach, S; Hodgkinson, C; Hoffmann, P; Hottenga, Jj; Konte, B; Lahti, J; Lahti-Pulkkinen, M; Lai, Db; Ligthart, L; Loukola, A; Maher, Bs; Mbarek, H; Mcintosh, Am; Mcqueen, Mb; Meyers, Jl; Milaneschi, Y; Palviainen, T; Peterson, Re; Ryu, E; Saccone, Nl; Salvatore, Je; Sanchez-Roige, S; Schwandt, M; Sherva, R; Streit, F; Strohmaier, J; Thomas, N; Wang, Jc; Webb, Bt; Wedow, R; Wetherill, L; Wills, Ag; Zhou, H; Boardman, Jd; Chen, Df; Choi, Ds; Copeland, We; Culverhouse, Rc; Dahmen, N; Degenhardt, L; Domingue, Bw; Frye, Ma; Gabel, W; Hayward, C; Ising, M; Keyes, M; Kiefer, F; Koller, G; Kramer, J; Kuperman, S; Lucae, S; Lynskey, Mt; Maier, W; Mann, K; Mannisto, S; Muller-Myhsok, B; Murray, Ad; Nurnberger, Ji; Preuss, U; Raikkonen, K; Reynolds, Md; Ridinger, M; Scherbaum, N; Schuckit, Ma; Soyka, M; Treutlein, J; Witt, Sh; Wodarz, N; Zill, P; Adkins, De; Boomsma, Di; Bierut, Lj; Brown, Sa; Bucholz, Kk; Costello, Ej; de Wit, H; Diazgranados, N; Eriksson, Jg; Farrer, La; Foroud, Tm; Gillespie, Na; Goate, Am; Goldman, D; Grucza, Ra; Hancock, Db; Harris, Km; Hesselbrock, V; Hewitt, Jk; Hopfer, Cj; Iacono, Wg; Johnson, Eo; Karpyak, Vm; Kendler, Ks; Kranzler, Hr; Krauter, K; Lind, Pa; Mcgue, M; Mackillop, J; Madden, Paf; Maes, Hh; Magnusson, Pke; Nelson, Ec; Nothen, Mm; Palmer, Aa; Penninx, Bwjh; Porjesz, B; Rice, Jp; Rietschel, M; Riley, Bp; Rose, Rj; Shen, Ph; Silberg, J; Stallings, Mc; Tarter, Re; Vanyukov, Mm; Vrieze, S; Wall, Tl; Whitfield, Jb; Zhao, Hy; Neale, Bm; Wade, Td; Heath, Ac; Montgomery, Gw; Martin, Ng; Sullivan, Pf; Kaprio, J; Breen, G; Gelernter, J; Edenberg, Hj; Bulik, Cm; Agrawal, A
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