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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

出版商更正:长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients

ABCA4相关性视网膜病变的基因型-表型相关性:来自西班牙245例患者队列的启示

Cobos, Estefania; Català-Mora, Jaume; Aguilera, Cinthia; Biarnés, Marc; Distefano, Laura; Antolín-Maté, María; Casaroli-Marano, Ricardo P; Alforja, Socorro; Barberán-Martínez, Pilar; Millán, José M; García-García, Gema; Santamaría, Juan Francisco; Yubero, Delia; Irigoyen, Cristina; Caminal, Josep Maria; Arias, Lluis; Corradi, Zelia; Cremers, Frans P M; Sau, Cristina; Jordan-Cumplido, Sara; Esteve-Garcia, Anna

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

以色列人群遗传性视网膜疾病的遗传图谱

Shalom, Sapir; Gradstein, Libe; Pras, Eran; Valensi, Johanna; Birk, Ohad S; Blumenfeld, Anat; Eilat, Avital; Macarov, Michal; Poleg, Tomer; Cremers, Frans P M; Roosing, Susanne; Panneman, Daan M; Hollander, Nadin; Goldenberg-Cohen, Nitza; Yahalom, Claudia; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror

Cardiovascular safety of testosterone therapy-Insights from the TRAVERSE trial and beyond: A position statement of the European Expert Panel for Testosterone Research

睾酮疗法的心血管安全性——来自TRAVERSE试验及其他研究的启示:欧洲睾酮研究专家组的立场声明

Zitzmann, Michael; Rastrelli, Giulia; Murray, Robert D; Edwards, David; Reisman, Yacov; Rao, Preethi Mohan; Sahi, Alexander; Jones, Thomas Hugh; Ferlin, Alberto; Armeni, Eleni; Corpas, Emiliano; Cremers, Jann-Frederik; David, Janine; Arver, Stefan; Antonio, Leen; Corona, Giovanni

Conditional Stat2 Knockout Mice as a Platform for Modeling Human Diseases

条件性Stat2基因敲除小鼠作为人类疾病模型平台

Cremers, Tess; Miz, Nataliya; Afanassiev, Alexandra; Yang, Ling; Kotredes, Kevin P; Gamero, Ana M

Systemically inducing trained immunity overcomes solid tumors' immunosuppressive microenvironment

系统性诱导训练免疫可以克服实体瘤的免疫抑制微环境

Priem, Bram; Willemsen, Lisa; Anbergen, Tom; van Elsas, Yuri; Deckers, Jeroen; Schrijver, David P; Hofstraat, Stijn R J; Messing, Iris V; Munitz, Jazz; Honing, Dionne; Prévot, Geoffrey; Toner, Yohana C; Morla, Judit; Wang, William; Ranzenigo, Anna; Sirchia, Isabella; Post, Tomas; Duivenvoorden, Raphaël; Kluza, Ewelina; Cremers, Glenn A O; Kreijtz, Joost H C M; Pérez-Medina, Carlos; van Leent, Mandy M T; Teunissen, Abraham J P; van der Meel, Roy; Zhou, Yi; Glass, Chris; Ochando, Jordi; Joosten, Leo A B; Fayad, Zahi A; Netea-Maier, Romana T; Netea, Mihai G; de Winther, Menno P J; Beldman, Thijs J; Griffioen, Arjan W; Mulder, Willem J M

A coronavirus assembly inhibitor that targets the viral membrane protein.

一种针对病毒膜蛋白的冠状病毒组装抑制剂

Laporte Manon, Jochmans Dirk, Bardiot Dorothée, Desmarets Lowiese, Debski-Antoniak Oliver J, Mizzon Giulia, Abdelnabi Rana, Leyssen Pieter, Chiu Winston, Zhang Zhikuan, Nomura Norimichi, Boland Sandro, Ohto Umeharu, Stahl Yannick, Wuyts Jurgen, De Jonghe Steven, Stevaert Annelies, van Hemert Martijn J, Bontes Brenda W, Wanningen Patrick, Groenewold G J Mirjam, Zegar Aneta, Owczarek Katarzyna, Joshi Sanjata, Koukni Mohamed, Arzel Philippe, Klaassen Hugo, Vanherck Jean-Christophe, Vandecaetsbeek Ilse, Cremers Niels, Donckers Kim, Francken Thibault, Van Buyten Tina, Rymenants Jasper, Schepers Joost, Pyrc Krzysztof, Hilgenfeld Rolf, Dubuisson Jean, Bosch Berend-Jan, Van Kuppeveld Frank, Eydoux Cecilia, Decroly Etienne, Canard Bruno, Naesens Lieve, Weynand Birgit, Snijder Eric J, Belouzard Sandrine, Shimizu Toshiyuki, Bartenschlager Ralf, Hurdiss Daniel L, Marchand Arnaud, Chaltin Patrick, Neyts Johan

Association of fibrotic-related extracellular vesicle microRNAs with lung involvement in systemic sclerosis

纤维化相关细胞外囊泡微RNA与系统性硬化症肺部受累的关联

Guiot, Julien; André, Béatrice; Potjewijd, Judith; Jacquerie, Pierre; Cremers, Sébastien; Henket, Monique; Idoufkir, Latifa; Remacle, Claire; Tobal, Rachid; Giltay, Laurie; Moermans, Catherine; Gester, Fanny; Polese, Barbara; Hamaïdia, Malik; Struman, Ingrid; Louis, Edouard; Malaise, Michel; de Seny, Dominique; van Paassen, Pieter; Louis, Renaud; Ribbens, Clio; Njock, Makon-Sébastien

Risk conditions for invasive pneumococcal disease in adults: a systematic review and meta-analysis

成人侵袭性肺炎球菌疾病的危险因素:系统评价和荟萃分析

Ditzel, Kim; Giardina, Federica; Ten Oever, Jaap; Cremers, Amelieke J H