未登录9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms9q34.11微重复包含SET基因,与神经发育障碍和复发性畸形相关。
De Falco, Alessandro; Vincent, Marie; Vieville, Gaelle; Gauthier, Marjolaine; Dieterich, Klaus; Coutton, Charles; Loddo, Sara; Novelli, Antonio; Dallapiccola, Bruno; Digilio, Maria Cristina; Briuglia, Silvana; Bernardini, Laura; Fontana, Paolo; Madej-pilarczyk, Agnieszka; Mlynek, Marlena; De Falco, Luigia; Acquaviva, Fabio; De Brasi, Daniele; Faivre, Laurence; Dauver, Lucie; Alnuaimi, Nouf; Callier, Patrick; Trevisan, Valentina; Onesimo, Roberta; Leoni, Chiara; Zampino, Giuseppe; Neri, Giovanni; Delplancq, Geoffroy; Perrin, Laurence; White, Susan M.; Guerrini, Renzo; Mei, Davide; Sani, Ilaria; Pantaleo, Marilena; Peron, Angela; Brunetti-pierri, Nicola
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收藏A Rare Malignant Case of a Primary Pseudomyogenic Haemangioendothelioma of the Bone骨原发性假性血管内皮瘤的罕见恶性病例
Di Mauro, Annabella; Tafuto, Salvatore; Cannella, Lucia; Collina, Francesca; Neri, Giovanni; Clemente, Ottavia; D'Arbitrio, Imma; Ricci, Francesca; Lastoria, Secondo; Ferrara, Gerardo; De Chiara, Annarosaria
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收藏Factors associated with the transition of adolescent inpatients from an intensive residential ward to adult mental health services与青少年住院患者从密集住院病房过渡到成人精神卫生服务的相关因素
Pontoni, Giancarlo; Di Pietro, Elena; Neri, Tommaso; Mattei, Giorgio; Longo, Fedora; Neviani, Vittoria; Neri, Giovanni; Stagi, Paolo; Caffo, Ernesto; Starace, Fabrizio; Galeazzi, Gian Maria
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收藏Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
Nobile, Veronica; Palumbo, Federica; Lanni, Stella; Ghisio, Valentina; Vitali, Alberto; Castagnola, Massimo; Marzano, Valeria; Maulucci, Giuseppe; De Angelis, Claudio; De Spirito, Marco; Pacini, Laura; D'Andrea, Laura; Ragno, Rino; Stazi, Giulia; Valente, Sergio; Mai, Antonello; Chiurazzi, Pietro; Genuardi, Maurizio; Neri, Giovanni; Tabolacci, Elisabetta
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收藏Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
Tabolacci, Elisabetta; Pomponi, Maria Grazia; Remondini, Laura; Pietrobono, Roberta; Nobile, Veronica; Pennacchio, Gaetana; Gurrieri, Fiorella; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro
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收藏TGF-β concentrations and activity are down-regulated in the aqueous humor of patients with neovascular age-related macular degeneration
Tosi, Gian Marco; Neri, Giovanni; Caldi, Elena; Fusco, Fiorella; Bacci, Tommaso; Tarantello, Antonio; Nuti, Elisabetta; Marigliani, Davide; Baiocchi, Stefano; Traversi, Claudio; Barbarino, Marcella; Eandi, Chiara M.; Parolini, Barbara; Mundo, Lucia; Santucci, Annalisa; Orlandini, Maurizio; Galvagni, Federico
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收藏A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco-Valls, Hector; Castilla-Vallmanya, Laura; Tonda, Raul; Cormand, Bru; Vilageliu, Lluisa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana
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收藏Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
Rinaldi, Berardo; Vaisfeld, Alessandro; Amarri, Sergio; Baldo, Chiara; Gobbi, Giuseppe; Magini, Pamela; Melli, Erto; Neri, Giovanni; Novara, Francesca; Pippucci, Tommaso; Rizzi, Romana; Soresina, Annarosa; Zampini, Laura; Zuffardi, Orsetta; Crimi, Marco
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收藏ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer; Stefl, Shannon; Alexov, Emil; Ryu, Jeong-Im; Choi, Jung-Hwa; Kim, Hyun-Taek; Tarpey, Patrick; Neri, Giovanni; Holloway, Lynda; Skinner, Cindy; Stevenson, Roger E.; Dorsky, Richard I.; Wang, Tao; Schwartz, Charles E.; Kim, Cheol-Hee
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收藏Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Pierpont, Mary Ella M.; Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Cruz, Molly Santa; Rauen, Katherine A.
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收藏The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation (vol 5, pg 1523, 2013)
Luca, Rossella; Averna, Michele; Zalfa, Francesca; Vecchi, Manuela; Bianchi, Fabrizio; La Fata, Giorgio; Del Nonno, Franca; Nardacci, Roberta; Bianchi, Marco; Nuciforo, Paolo; Munck, Sebastian; Parrella, Paola; Moura, Rute; Signori, Emanuela; Alston, Robert; Kuchnio, Anna; Farace, Maria Giulia; Fazio, Vito Michele; Piacentini, Mauro; De Strooper, Bart; Achsel, Tilmann; Neri, Giovanni; Neven, Patrick; Evans, D. Gareth; Carmeliet, Peter; Mazzone, Massimiliano; Bagni, Claudia
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收藏A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype
Magini, Pamela; Pippucci, Tommaso; Tsai, I-Chun; Coppola, Simona; Stellacci, Emilia; Bartoletti-Stella, Anna; Turchetti, Daniela; Graziano, Claudio; Cenacchi, Giovanna; Neri, Iria; Cordelli, Duccio Maria; Marchiani, Valentina; Bergamaschi, Rosalba; Gasparre, Giuseppe; Neri, Giovanni; Mazzanti, Laura; Patrizi, Annalisa; Franzoni, Emilio; Romeo, Giovanni; Bordo, Domenico; Tartaglia, Marco; Katsanis, Nicholas; Seri, Marco
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