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

CAG-targeted brain-permeable therapy tested in biallelic humanized polyQ mouse models.

在双等位基因人源化polyQ小鼠模型中测试了CAG靶向脑渗透性疗法

Surdyka Magdalena, Kalinowska-Pośka Żaneta, Niewiadomska-Cimicka Anna, Jesion Ewelina, Fiszer Agnieszka, Singer-Mikosch Elisabeth, Fievet Lorraine, Przybyl Lukasz, Caron Nicholas S, Hayden Michael R, Nguyen Huu Phuc, Trottier Yvon, Figiel Maciej

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories

解读与TP53致病变异相关的双重临床实体:来自法国实验室53085例HBOC基因检测的启示

Kasper, Edwige; Boulouard, Flavie; Basset, Noémie; Golmard, Lisa; Sassi, Hela; Bouvignies, Emilie; Branchaud, Maud; Charbonnier, Camille; Parodi, Nathalie; Rolain, Marion; Albuisson, Juliette; Al Saati, Ayman; Benusiglio, Patrick; Berthet, Pascaline; Bidart, Marie; Bonnet, Céline; Bouras, Ahmed; Boutry-Kryza, Nadia; Brayotel, Fanny; Bubien, Virginie; Buisson, Adrien; Castéra, Laurent; Caron, Olivier; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Derangère, Valentin; Fievet, Alice; Garrec, Céline; Gauthier-Villars, Marion; Gay-Bellile, Mathilde; Goussot, Vincent; le Gall, Jessica; Lepage, Mathis; Lokchine, Anna; Perrier, Alexandre; Rouleau, Etienne; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Ravel, Jean-Marie; Perre, Pierre Vande; Vaur, Dominique; Vilquin, Paul; Bougeard, Gaëlle; Baert-Desurmont, Stéphanie; Thery, Jean-Christophe; Houdayer, Claude

RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing Patterns

CDH1基因RNA测序剪接谱及其对CDH1变异体临床致病性分类的影响:可变剪接和致病性剪接模式的描述

Sebai, Molka; Tang, Roseline; Adnani, Yahia; Fievet, Alice; Cabaret, Odile; Robert de Rancher, Marie-Aude; Auger, Nathalie; Elaribi, Yasmina; Jilani, Houweyda; Limacher, Jean-Marc; Caron, Olivier; Jemaa, Lamia Ben; Rouleau, Etienne

Prenatal Hemoglobin Concentration and Long-Term Child Neurocognitive Development

产前血红蛋白浓度与儿童长期神经认知发育

Mireku, Michael O; Boivin, Michael J; Zoumenou, Roméo; Garrison, Amanda; Cot, Michel; Alao, Jules; Fievet, Nadine; Massougbodji, Achille; Bodeau-Livinec, Florence

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

Diamond-Blackfan 贫血症中 60S 核糖体亚基的非典型形式与 RPL17 变异有关

Florence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, David W Reid, Kelsey A McFadden, Nathalie Montel-Lehry, Cong Yu, Mingyan Fang, Jianguo Zhang, Beryl Royer-Bertrand, Pietro Farinelli, Narjesse Karboul, Jason R Willer, Lorraine Fievet, Zahurul Alam Bhuiyan, Alissa Lw Kleinhenz, Julie Jade

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

CACHD1基因的双等位基因功能缺失变异会导致一种新型神经发育综合征,伴有面部畸形和多系统先天性异常。

Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E; Wells, Michael F

AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model

AAV 介导的 CAG 靶向选择性降低多聚谷氨酰胺扩增蛋白并减弱脊髓小脑共济失调小鼠模型中的疾病表型

Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka, Ewelina Jesion, Céline Keime, Elisabeth Singer, Aurélie Eisenmann, Zaneta Kalinowska-Poska, Hoa Huu Phuc Nguyen, Agnieszka Fiszer, Maciej Figiel, Yvon Trottier

Cone Beam-CT-Based Bone Volume Assessments of Alveolar Synthetic Bone Graft GlassBONE™ in Cleft Lip and Palate Patients: A Retrospective Study

锥形束CT对唇腭裂患者牙槽骨合成骨移植材料GlassBONE™骨体积的评估:一项回顾性研究

Philip-Alliez, C; Fievet, L; Serratrice, N; Seiler, M; Le Gall, M; Charavet, C; Catherine, J H

Fetal sex and risk of pregnancy-associated malaria in Plasmodium falciparum-endemic regions: a meta-analysis

疟原虫流行地区胎儿性别与妊娠相关疟疾风险:一项荟萃分析

Unger, Holger W; Hadiprodjo, Anastasia Jessica; Gutman, Julie R; Briand, Valerie; Fievet, Nadine; Valea, Innocent; Tinto, Halidou; D'Alessandro, Umberto; Landis, Sarah H; Ter Kuile, Feiko; Ouma, Peter; Oneko, Martina; Mwapasa, Victor; Slutsker, Laurence; Terlouw, Dianne J; Kariuki, Simon; Ayisi, John; Nahlen, Bernard; Desai, Meghna; Madanitsa, Mwayi; Kalilani-Phiri, Linda; Ashorn, Per; Maleta, Kenneth; Tshefu-Kitoto, Antoinette; Mueller, Ivo; Stanisic, Danielle; Cates, Jordan; Van Eijk, Anna Maria; Ome-Kaius, Maria; Aitken, Elizabeth H; Rogerson, Stephen J

Correction Notice to: "Seroepidemiology of toxoplasmosis in pregnant women and detection of infection acquired during pregnancy in Cotonou, Benin" - Parasite 30, 43 (2023), https://doi.org/10.1051/parasite/2023040

更正声明:“贝宁科托努孕妇弓形虫病的血清流行病学及妊娠期感染的检测” - Parasite 30, 43 (2023), https://doi.org/10.1051/parasite/2023040

Amagbégnon, Richard; Dechavanne, Celia; Dambrun, Magalie; Yehouénou, Urielle; Akondé, Noé; Migot-Nabias, Florence; Nounnagnon Tonouhéwa, Aretas Babatoundé; Hamidović, Azra; Fievet, Nadine; Tonato-Bagnan, Angéline; Ogouyemi-Hounto, Aurore; Alao, Maroufou Jules; Dardé, Marie-Laure; Mercier, Aurélien; Kindé-Gazard, Dorothée