日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study

努南综合征和伴有多发性雀斑的努南综合征中基因型-表型与自闭症谱系障碍相关性的横断面研究

McGhee, Chloe Alexa; Plank, Julia R; Pannone, Luca; Russo, Odeya; Fuhrmann, Naomi; Ruggeri, Aurora; Radio, Francesca Clementina; Martinelli, Simone; Tartaglia, Marco; Green, Tamar

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

免疫学和血液学发现是具有新的生殖系致病性 CBL 变异的患者的主要特征

Stellacci Emilia, Carter Jennefer N, Pannone Luca, Stevenson David, Moslehi Dorsa, Venanzi Serenella, Bernstein Jonathan A, Tartaglia Marco, Martinelli Simone

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

新生DHDDS变异会导致伴有肌阵挛的神经发育和神经退行性疾病

Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk J; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

HIST1H1E C端尾部功能异常加速细胞衰老并导致过早衰老

Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, M E Suzanne; Meuwissen, Marije; Kenis, Sandra; Van der Aa, Nathalie; Larson, Austin; Brown, Kathleen; Wasserstein, Melissa P; Skotko, Brian G; Begtrup, Amber; Person, Richard; Karayiorgou, Maria; Roos, J Louw; Van Gassen, Koen L; Koopmans, Marije; Bijlsma, Emilia K; Santen, Gijs W E; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia A L; Hoffer, Mariette J V; Lalani, Seema R; Streff, Haley; Craigen, William J; Graham, Brett H; van den Elzen, Annette P M; Kamphuis, Daan J; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; Wojcik, Monica H; Viberti, Clara; Di Gaetano, Cornelia; Bertini, Enrico; Petrucci, Simona; De Luca, Alessandro; Rota, Rossella; Ferretti, Elisabetta; Matullo, Giuseppe; Dallapiccola, Bruno; Sgura, Antonella; Walkiewicz, Magdalena; Kooy, R Frank; Tartaglia, Marco

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

RRAS基因的激活突变是RAS病谱系中某种表型的基础,并促进白血病的发生。

Flex, Elisabetta; Jaiswal, Mamta; Pantaleoni, Francesca; Martinelli, Simone; Strullu, Marion; Fansa, Eyad K; Caye, Aurélie; De Luca, Alessandro; Lepri, Francesca; Dvorsky, Radovan; Pannone, Luca; Paolacci, Stefano; Zhang, Si-Cai; Fodale, Valentina; Bocchinfuso, Gianfranco; Rossi, Cesare; Burkitt-Wright, Emma M M; Farrotti, Andrea; Stellacci, Emilia; Cecchetti, Serena; Ferese, Rosangela; Bottero, Lisabianca; Castro, Silvana; Fenneteau, Odile; Brethon, Benoît; Sanchez, Massimo; Roberts, Amy E; Yntema, Helger G; Van Der Burgt, Ineke; Cianci, Paola; Bondeson, Marie-Louise; Cristina Digilio, Maria; Zampino, Giuseppe; Kerr, Bronwyn; Aoki, Yoko; Loh, Mignon L; Palleschi, Antonio; Di Schiavi, Elia; Carè, Alessandra; Selicorni, Angelo; Dallapiccola, Bruno; Cirstea, Ion C; Stella, Lorenzo; Zenker, Martin; Gelb, Bruce D; Cavé, Hélène; Ahmadian, Mohammad R; Tartaglia, Marco