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

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

1型神经纤维瘤病相关乳腺癌的亚型分布、临床表现和分子谱

Di Giosaffatte, Niccolò; Daniele, Paola; Petrizzelli, Francesco; Iacovino, Chiara; Canciani, Chiara; Garau, Maria Luisa; Santoro, Claudia; Trevisan, Valentina; Panfili, Arianna; Cavone, Stefania; Guida, Valentina; D'Asdia, Maria Cecilia; Bernardini, Laura; Majore, Silvia; Ferraris, Alessandro; Valiante, Michele; Gensini, Francesca; Radio, Francesca Clementina; Tortora, Giada; Cassina, Matteo; Miele, Giuseppina; Priolo, Manuela; Sirchia, Fabio; Piccinno, Ludovica; Flex, Elisabetta; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, Vincenzo; Salviati, Leonardo; Papi, Laura; Grammatico, Paola; Leoni, Chiara; Piluso, Giulio; Giustini, Sandra; Mazza, Tommaso; Upadhyaya, Meena; Tartaglia, Marco; Trevisson, Eva; De Luca, Alessandro

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa

双等位基因BAIAP3变异与孤立性视网膜色素变性相关

Cordeddu, Viviana; Flex, Elisabetta; Mignini, Luca; Bruselles, Alessandro; Cecchetti, Serena; Messina, Elena; Arasi, Maria Beatrice; Carvetta, Mattia; Straface, Emilio; Leone, Alessandro; Guadagnolo, Daniele; D'Asdia, Maria Cecilia; Nebbioso, Marcella; Bellacchio, Emanuele; Dell'Aquila, Carmen; Ziccardi, Lucia; Pizzuti, Antonio; De Luca, Alessandro; Tartaglia, Marco

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement

SH2B3基因双等位基因变异与新生儿骨髓增生性疾病和多系统受累相关。

Leardini, Davide; Flex, Elisabetta; Stieglitz, Elliot; Cerasi, Sara; Bertuccio, Salvatore Nicola; Baccelli, Francesco; Kállay, Krisztián; Kjollerstrom, Paula; Batalha, Sara; Carpentieri, Giovanna; Pedace, Lucia; Ciolfi, Andrea; Hammad, Mahmoud; Miranda, Maria; Rojas, Marta; Rao, Anupama; Innes, Andrew J; Rudelius, Martina; Santini, Valeria; Raddi, Marco; Teh, Kok-Hoi; De Vito, Rita; Yoshimi, Ayami; Tartaglia, Marco; Locatelli, Franco; Niemeyer, Charlotte M; Masetti, Riccardo

Brain malformations and seizures by impaired chaperonin function of TRiC

TRiC分子伴侣功能受损导致脑畸形和癫痫发作

Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder

生殖系双等位基因SH2B3/LNK改变易导致新生儿幼年型骨髓单核细胞白血病样疾病

Arfeuille, Chloé; Vial, Yoann; Cadenet, Margaux; Caye-Eude, Aurélie; Fenneteau, Odile; Neven, Quentin; Bonnard, Adeline A; Pizzi, Simone; Carpentieri, Giovanna; Capri, Yline; Girardi, Katia; Pedace, Lucia; Macchiaiolo, Marina; Boudhar, Kamel; Khaled, Monia Ben; Chahla, Wadih Abou; Lutun, Anne; Fahd, Mony; Drunat, Séverine; Flex, Elisabetta; Dalle, Jean-Hugues; Strullu, Marion; Locatelli, Franco; Tartaglia, Marco; Cavé, Hélène

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

第八届国际RAS病研讨会:通过全球合作与倡导拓展研究和治疗实践

Pierpont, Elizabeth I; Bennett, Anton M; Schoyer, Lisa; Stronach, Beth; Anschutz, April; Borrie, Sarah C; Briggs, Benjamin; Burkitt-Wright, Emma; Castel, Pau; Cirstea, Ion C; Draaisma, Fieke; Ellis, Michelle; Fear, Vanessa S; Frone, Megan N; Flex, Elisabetta; Gelb, Bruce D; Green, Tamar; Gripp, Karen W; Khoshkhoo, Sattar; Kieran, Mark W; Kleemann, Karolin; Klein-Tasman, Bonita P; Kontaridis, Maria I; Kruszka, Paul; Leoni, Chiara; Liu, Clifford Z; Merchant, Nadia; Magoulas, Pilar L; Moertel, Christopher; Prada, Carlos E; Rauen, Katherine A; Roelofs, Renée; Rossignol, Rodrigue; Sevilla, Christine; Sevilla, Gigi; Sheedy, Ryan; Stieglitz, Elliot; Sun, Daochun; Tiemens, Dagmar; White, Forest; Wingbermühle, Ellen; Wolf, Cordula; Zenker, Martin; Andelfinger, Gregor

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

作者更正:ARHGAP36基因座的增强子劫持与结缔组织向骨的转化相关。

Melo, Uirá Souto; Jatzlau, Jerome; Prada-Medina, Cesar A; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schöpflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-García, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geißler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Costello综合征和心面皮肤综合征的肌肉骨骼表型:功能评估状态的见解

Leoni, Chiara; Romeo, Domenico Marco; Pelliccioni, Michele; Di Già, Mariangela; Onesimo, Roberta; Giorgio, Valentina; Flex, Elisabetta; Tedesco, Marta; Tartaglia, Marco; Rigante, Donato; Valassina, Antonio; Zampino, Giuseppe

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

HIST1H1E C 端移码突变会导致特定的 DNA 低甲基化特征。

Ciolfi, Andrea; Aref-Eshghi, Erfan; Pizzi, Simone; Pedace, Lucia; Miele, Evelina; Kerkhof, Jennifer; Flex, Elisabetta; Martinelli, Simone; Radio, Francesca Clementina; Ruivenkamp, Claudia A L; Santen, Gijs W E; Bijlsma, Emilia; Barge-Schaapveld, Daniela; Ounap, Katrin; Siu, Victoria Mok; Kooy, R Frank; Dallapiccola, Bruno; Sadikovic, Bekim; Tartaglia, Marco

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

RRAS2 激活突变是努南综合征的罕见病因

Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H F; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei Adariani, Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Cuturilo, Goran; Kazemein Jasemi, Neda S; Dvorsky, Radovan; Monaghan, Kristin G; Vincent, Lisa M; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin