PAVINATO, LISA

PAVINATO, LISA  

SCIENZE MEDICHE  

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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 2021 Verdura, Edgard; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé-Grau, Anna; de Souza, Precilla; Adams, David R; Casasnovas, Carlos; Rehm, Heidi L; Mefford, Heather C; González Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 2022 Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 2022 Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C; Wessels, Marja W; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Ziętkiewicz, Beata S; Saris, Jasper J; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amélie
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases 2022 Marcogliese P.C.; Deal S.L.; Andrews J.; Harnish J.M.; Bhavana V.H.; Graves H.K.; Jangam S.; Luo X.; Liu N.; Bei D.; Chao Y.-H.; Hull B.; Lee P.-T.; Pan H.; Bhadane P.; Huang M.-C.; Longley C.M.; Chao H.-T.; Chung H.-L.; Haelterman N.A.; Kanca O.; Manivannan S.N.; Rossetti L.Z.; German R.J.; Gerard A.; Schwaibold E.M.C.; Fehr S.; Guerrini R.; Vetro A.; England E.; Murali C.N.; Barakat T.S.; van Dooren M.F.; Wilke M.; van Slegtenhorst M.; Lesca G.; Sabatier I.; Chatron N.; Brownstein C.A.; Madden J.A.; Agrawal P.B.; Keren B.; Courtin T.; Perrin L.; Brugger M.; Roser T.; Leiz S.; Mau-Them F.T.; Delanne J.; Sukarova-Angelovska E.; Trajkova S.; Rosenhahn E.; Strehlow V.; Platzer K.; Keller R.; Pavinato L.; Brusco A.; Rosenfeld J.A.; Marom R.; Wangler M.F.; Yamamoto S.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 2021 Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A.
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 2020 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 2022 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity 2021 Pavinato L.; Nematian-Ardestani E.; Zonta A.; De Rubeis S.; Buxbaum J.; Mancini C.; Bruselles A.; Tartaglia M.; Pessia M.; Tucker S.J.; D'adamo M.C.; Brusco A.
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 2020 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 2020 Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A.
p140Cap regulates the composition and localization of the NMDAR complex in synaptic lipid rafts 2022 Angelini, Costanza; Morellato, Alessandro; Alfieri, Annalisa; Pavinato, Lisa; Cravero, Tiziana; Bianciotto, Olga Teresa; Salemme, Vincenzo; Natalini, Dora; Centonze, Giorgia; Raspanti, Alessandra; Garofalo, Tina; Valdembri, Donatella; Serini, Guido; Marcantoni, Andrea; Becchetti, Andrea; Giustetto, Maurizio; Turco, Emilia; Defilippi, Paola
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 2022 Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 2020 Moroni A, Carli D, Giorgio E, Sirchia F, Pavinato L, Cardaropoli S, Di Martino P, Mussa A, Pipucci T, De Rubeis S, Brusco A
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders 2022 Carla Liaci, Lucia Prandi, Lisa Pavinato, Alfredo Brusco, Mara Maldotti, Ivan Molineris, Salvatore Oliviero, Giorgio R. Merlo
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 2019 Pavinato, L; Giorgio, E; Antona, V; Carli, D; Ranguin, K; Colson, C; De Rubeis, S; Pippucci, T; Dimartino, P; Scaramuzzino, M; Cardaropoli, S; Ciolfi, A; Radio, C; Buxbaum, J; Tartaglia, M; Brusco, A