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

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

中心体-纤毛界面处的 CEP76 功能障碍会导致一系列纤毛病。

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

利用纳米孔长读长测序技术解析X连锁视网膜色素变性患者的RPGR ORF15基因型

Vaché, Christel; Faugère, Valérie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Béatrice; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Françoise

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish

使用 vangl2 敲除斑马鱼的拯救试验对种系 VANGL2 变体进行功能分析

Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, Ahlam Alqahtani, Amirah Yusof, Lorraine Eley, Alistair H L Coleman, Sumanty Tohari, Alvin Yu-Jin Ng, Byrappa Venkatesh, Essa Alharby, Luke Mansard, Marie-Noelle Bonnet-Dupeyron, Anne-Francoise Roux, Christel Vaché, Joëlle Roume, Pat

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

CEP162 缺陷会导致人类视网膜变性,并揭示其在纤毛发生和神经发生中的双重作用

Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Dueñas; Käseberg, Stephan; Jäger, Melanie; Willer, Jason R; Winter, Jennifer; Truong, Hanh M; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stöhr, Heidi; Mansard, Luke; Roux, Anne-Françoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M; Van Lint, Michel; Rossmann, Heidi; Häuser, Friederike; Nürnberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N; De Baere, Elfride; Bolz, Hanno J

Long term activity of vemurafenib in cancers with BRAF mutations: the ACSE basket study for advanced cancers other than BRAF(V600)-mutated melanoma

维莫非尼在BRAF突变癌症中的长期疗效:ACSE针对除BRAF(V600)突变型黑色素瘤以外的晚期癌症的篮式研究

Blay, J Y; Cropet, C; Mansard, S; Loriot, Y; De La Fouchardière, C; Haroche, J; Topart, D; Tougeron, D; You, B; Italiano, A; Le Brun-Ly, V; Ferrero, J M; Penel, N; Fabbro, M; Troussard, X; Malka, D; Ray-Coquard, I; Leboulleux, S; Fléchon, A; Maubec, E; Charles, J; Dalle, S; Taieb, S; Garcia, G C T E; Mandache, A M; Colignon, N; Gavrel, M; Nowak, F; Hoog Labouret, N; Mahier Aït Oukhatar, C; Gomez-Roca, C

Retrospective analysis of real-world data to evaluate actionability of a comprehensive molecular profiling panel in solid tumor tissue samples (REALM study)

对真实世界数据进行回顾性分析,以评估综合分子谱分析在实体瘤组织样本中的应用价值(REALM 研究)

Leroy, Karen; Audigier Valette, Clarisse; Alexandre, Jérôme; Boussemart, Lise; Chiesa, Jean; Deldycke, Clotilde; Gomez-Rocca, Carlos; Hollebecque, Antoine; Lehmann-Che, Jacqueline; Lemoine, Antoinette; Mansard, Sandrine; Medioni, Jacques; Monnet, Isabelle; Mourah, Samia; Pierret, Thomas; Spaëth, Dominique; Civet, Alexandre; Galoin, Sandrine; Italiano, Antoine

Clostridium difficile infection and immune checkpoint inhibitor-induced colitis in melanoma: 18 cases and a review of the literature

黑色素瘤患者艰难梭菌感染和免疫检查点抑制剂诱发性结肠炎:18 例病例报告及文献综述

Vuillamy, Chloé; Arnault, Jean-Philippe; Fumery, Mathurin; Mortier, Laurent; Monestier, Sandrine; Mansard, Sandrine; Bens, Guido; Duval-Modeste, Anne-Bénédicte; Funck-Brentano, Elisa; Jeudy, Géraldine; Machet, Laurent; Chaby, Guillaume; Dadban, Ali; Lok, Catherine

Phase I study of [(131)I] ICF01012, a targeted radionuclide therapy, in metastatic melanoma: MELRIV-1 protocol

[(131)I] ICF01012(一种靶向放射性核素疗法)治疗转移性黑色素瘤的 I 期研究:MELRIV-1 方案

Thivat, Emilie; Rouanet, Jacques; Auzeloux, Philippe; Sas, Nicolas; Jouberton, Elodie; Levesque, Sophie; Billoux, Tommy; Mansard, Sandrine; Molnar, Ioana; Chanchou, Marion; Fois, Giovanna; Maigne, Lydia; Chezal, Jean-Michel; Miot-Noirault, Elisabeth; D'Incan, Michel; Durando, Xavier; Cachin, Florent

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

对 231 名法国患者队列的研究显著扩展了两个主要 Usher 基因 MYO7A 和 USH2A 的突变谱

Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi