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

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

SMCHD1基因变异与2型面肩肱型肌营养不良症及其致病性和疾病外显率预测的挑战

Gérard, Laurène; Delourme, Mégane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonnière, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; De La Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Mélanie; Hadouiri, Nawale; Kouton, Ludivine; Laforêt, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Véronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaëlle; Magdinier, Frédérique

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

1p36缺失综合征:回顾和定位,并进一步表征其表型,一项包含86例患者的新队列研究

Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean-Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne-Claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, François; Doco-Fenzy, Martine

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

基于外显子 49 无症状缺失的 DMD 基因新型外显子跳跃治疗方法

Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet, Chantal Missirian, Sabine Sigaudy, Nicole Philip, France Leturcq, Nicolas Lévy, Martin Krahn, Marc Bartoli

Computed tomography-guided percutaneous neurolysis of celiac plexus: technical description

计算机断层扫描引导下经皮腹腔神经丛神经阻滞术:技术描述

Grubert, Renata Motta; Tibana, Tiago Kojun; Missirian, Larissa Araújo; Neves, Thaline Mairace Hernandez das; Nunes, Thiago Franchi

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

SMCHD1参与DUX4编码D4Z4宏卫星的从头甲基化

Camille Dion ,Stéphane Roche ,Camille Laberthonnière ,Natacha Broucqsault ,Virginie Mariot ,Shifeng Xue ,Alexandra D Gurzau ,Agnieszka Nowak ,Christopher T Gordon ,Marie-Cécile Gaillard ,Claire El-Yazidi ,Morgane Thomas ,Andrée Schlupp-Robaglia ,Chantal Missirian ,Valérie Malan ,Liham Ratbi ,Abdelaziz Sefiani ,Bernd Wollnik ,Bernard Binetruy ,Emmanuelle Salort Campana ,Shahram Attarian ,Rafaelle Bernard ,Karine Nguyen ,Jeanne Amiel ,Julie Dumonceaux ,James M Murphy ,Jérôme Déjardin ,Marnie E Blewitt ,Bruno Reversade ,Jérôme D Robin ,Frédérique Magdinier

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

勘误:作者更正:用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas

Biodiversity and thermal ecological function: The influence of freshwater algal diversity on local thermal environments

生物多样性与热生态功能:淡水藻类多样性对局部热环境的影响

Missirian, Anouch; Frank, Eyal G; Gersony, Jess T; Wong, Jason C Y; Naeem, Shahid

SUPPRESSOR OF GAMMA RESPONSE1 Links DNA Damage Response to Organ Regeneration

γ反应抑制因子1将DNA损伤反应与器官再生联系起来

Ross A Johnson, Phillip A Conklin, Michelle Tjahjadi, Victor Missirian, Ted Toal, Siobhan M Brady, Anne B Britt

Regulatory variants of FOXG1 in the context of its topological domain organisation

FOXG1 的调控变体在其拓扑结构域组织背景下

Mehrjouy, Mana M; Fonseca, Ana Carolina S; Ehmke, Nadja; Paskulin, Giorgio; Novelli, Antonio; Benedicenti, Francesco; Mencarelli, Maria Antonietta; Renieri, Alessandra; Busa, Tiffany; Missirian, Chantal; Hansen, Claus; Abe, Kikue Terada; Speck-Martins, Carlos Eduardo; Vianna-Morgante, Angela M; Bak, Mads; Tommerup, Niels