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Giovanni Neri

institut national de la sante et de la recherche medicale (inserm)

69H指数
535论文数
1.8W被引数
收录论文 93
发表时间
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。
err2025-11-01
err0
PREAI
errDe 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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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
err2025-04-10
err0
errOAAI
errDi 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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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
err2021-01-24
err7
PREAI
errPontoni, 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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Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma
err2020-11-17
err4
errOAAI
errVaisfeld, Alessandro; Spartano, Serena; Gobbi, Giuseppe; Vezzani, Annamaria; Neri, Giovanni
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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
err2020-01-09
err21
errOAAI
errNobile, 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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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
err2019-12-05
err7
errOAAI
errTabolacci, Elisabetta; Pomponi, Maria Grazia; Remondini, Laura; Pietrobono, Roberta; Nobile, Veronica; Pennacchio, Gaetana; Gurrieri, Fiorella; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro
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TGF-β concentrations and activity are down-regulated in the aqueous humor of patients with neovascular age-related macular degeneration
err2018-05-23
err26
errOAAI
errTosi, 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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A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
err2018-01-12
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errOAAI
errUrreizti, 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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ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities儿童和脑光谱异常交替偏瘫的ATP1A3突变患者
err2017-08-01
err6
PREAI
errGiacanelli, Manlio; Petrucci, Antonio; Lispi, Ludovico; Luna, Rodolfo; Neri, Giovanni; Gurrieri, Fiorella; Angelini, Corrado
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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
err2017-04-11
err16
errOAAI
errRinaldi, 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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Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
err2016-03-24
err27
errOAAI
errTabolacci, Elisabetta; Mancano, Giorgia; Lanni, Stella; Palumbo, Federica; Goracci, Martina; Ferre, Fabrizio; Helmer-Citterich, Manuela; Neri, Giovanni
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Defining the role of the CGGBP1 protein in FMR1 gene expression
err2015-08-26
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errOAAI
errGoracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
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Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
err2015-08-05
err39
errOAAI
errPavone, Piero; Pratico, Andrea D.; Falsaperla, Raffaele; Ruggieri, Martino; Zollino, Marcella; Corsello, Giovanni; Neri, Giovanni
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ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
err2015-06-08
err52
errOAAI
errMay, 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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Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
err2014-10-01
err157
errOAAI
errPierpont, 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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The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation (vol 5, pg 1523, 2013)
err2014-04-02
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errOAAI
errLuca, 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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The growth hormone response to hexarelin in patients with Prader-Willi syndrome
err2014-03-29
err11
PREAI
errCappa, M; Raguso, G; Palmiotto, T; Faedda, A; Gurreri, F; Neri, G; Deghenghi, R; Loche, S
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A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype
err2014-02-19
err37
errOAAI
errMagini, 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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Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients
err2013-10-01
err18
PREAI
errGiovannini, Simona; Marangio, Lucia; Fusco, Carlo; Scarano, Angela; Frattini, Daniele; Della Giustina, Elvio; Zollino, Marcella; Neri, Giovanni; Gobbi, Giuseppe
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