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

Spatiotemporal histogenesis of the developing human cerebellum reveals dynamic layering of Bergmann glia

人类小脑发育的时空组织发生学揭示了伯格曼胶质细胞的动态分层结构

He, Guanyi; Du, Simon; Tan, Henry; Yellampally, Sri; Erickson, Anders W; Fernandez, Virginia; Encha-Razavi, Ferechte; Phillips, Kimberley A; Haberler, Christine; Amberg, Nicole; Borrell, Victor; Northcott, Paul A; Taylor, Michael D; Millen, Kathleen J; Haldipur, Parthiv

Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum

绘制人类小脑室区衍生神经元的发育图谱

Erickson, Anders W; Tan, Henry; Hendrikse, Liam D; Millman, Jake; Thomson, Zachary; Golser, Joseph; Khan, Omar; He, Guanyi; Bach, Kathleen; Mishra, Arpit Suresh; Kopic, Janja; Krsnik, Zeljka; Encha-Razavi, Ferechte; Petrilli, Giulia; Guimiot, Fabien; Silvestri, Evelina; Aldinger, Kimberly A; Taylor, Michael D; Millen, Kathleen J; Haldipur, Parthiv

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature

COG6相关产前表型(CDG2L):临床病理报告及文献综述

Guterman, Sarah; Feresin, Agnese; Boutaud, Lucile; Jacquin, Clémence; Lyonnet, Stanislas; Bernard, Jean-Pierre; Colmant, Claire; Roth, Philippe; Bourgon, Nicolas; Mace, Pierre; Thoreau, Alice; Ville, Yves; Bengoa, Joana; Ait Arkoub, Zaina; Fourrage, Cécile; Encha-Razavi, Ferechté; Bessières, Bettina; Attié-Bitach, Tania

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

编码 Crumbs 细胞极性复合物组分 2 的 CRB2 基因的双等位基因变异会导致非交通性脑积水,这是由于中脑导水管和延髓中央管闭锁所致。

Tessier, Aude; Roux, Nathalie; Boutaud, Lucile; Lunel, Elodie; Hakkakian, Leila; Parisot, Mélanie; Garfa-Traoré, Meriem; Ichkou, Amale; Elkhartoufi, Nadia; Bole, Christine; Nitschke, Patrick; Amiel, Jeanne; Martinovic, Jelena; Encha-Razavi, Férechté; Attié-Bitach, Tania; Thomas, Sophie

Adaptive and Innate Immune Cells in Fetal Human Cytomegalovirus-Infected Brains

胎儿巨细胞病毒感染脑组织中的适应性免疫细胞和固有免疫细胞

Sellier, Yann; Marliot, Florence; Bessières, Bettina; Stirnemann, Julien; Encha-Razavi, Ferechte; Guilleminot, Tiffany; Haicheur, Nacilla; Pages, Franck; Ville, Yves; Leruez-Ville, Marianne

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

对寨卡病毒感染胎儿畸形的临床和组织病理学研究

Beaufrère, Aurélie; Bessières, Bettina; Bonnière, Maryse; Driessen, Marine; Alfano, Christian; Couderc, Thérèse; Thiry, Marc; Thelen, Nicolas; Lecuit, Marc; Attié-Bitach, Tania; Vekemans, Michel; Ville, Yves; Nguyen, Laurent; Leruez-Ville, Marianne; Encha-Razavi, Férechté

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

复发性 TUBA1A p.(Arg2His) 突变的临床和功能特征

Jennifer F Gardner, Thomas D Cushion, Georgios Niotakis, Heather E Olson, P Ellen Grant, Richard H Scott, Neil Stoodley, Julie S Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M Palmer-Smith, Hood Mugalaasi, Jonathan G L Mullins, Daniela T

New insights into genotype-phenotype correlation for GLI3 mutations

GLI3突变基因型-表型相关性的新见解

Démurger, Florence; Ichkou, Amale; Mougou-Zerelli, Soumaya; Le Merrer, Martine; Goudefroye, Géraldine; Delezoide, Anne-Lise; Quélin, Chloé; Manouvrier, Sylvie; Baujat, Geneviève; Fradin, Mélanie; Pasquier, Laurent; Megarbané, André; Faivre, Laurence; Baumann, Clarisse; Nampoothiri, Sheela; Roume, Joëlle; Isidor, Bertrand; Lacombe, Didier; Delrue, Marie-Ange; Mercier, Sandra; Philip, Nicole; Schaefer, Elise; Holder, Muriel; Krause, Amanda; Laffargue, Fanny; Sinico, Martine; Amram, Daniel; André, Gwenaelle; Liquier, Alain; Rossi, Massimiliano; Amiel, Jeanne; Giuliano, Fabienne; Boute, Odile; Dieux-Coeslier, Anne; Jacquemont, Marie-Line; Afenjar, Alexandra; Van Maldergem, Lionel; Lackmy-Port-Lis, Marylin; Vincent-Delorme, Catherine; Chauvet, Marie-Liesse; Cormier-Daire, Valérie; Devisme, Louise; Geneviève, David; Munnich, Arnold; Viot, Géraldine; Raoul, Odile; Romana, Serge; Gonzales, Marie; Encha-Razavi, Ferechte; Odent, Sylvie; Vekemans, Michel; Attie-Bitach, Tania

TCTN3 mutations cause Mohr-Majewski syndrome

TCTN3突变导致Mohr-Majewski综合征

Thomas, Sophie; Legendre, Marine; Saunier, Sophie; Bessières, Bettina; Alby, Caroline; Bonnière, Maryse; Toutain, Annick; Loeuillet, Laurence; Szymanska, Katarzyna; Jossic, Frédérique; Gaillard, Dominique; Yacoubi, Mohamed Tahar; Mougou-Zerelli, Soumaya; David, Albert; Barthez, Marie-Anne; Ville, Yves; Bole-Feysot, Christine; Nitschke, Patrick; Lyonnet, Stanislas; Munnich, Arnold; Johnson, Colin A; Encha-Razavi, Férechté; Cormier-Daire, Valérie; Thauvin-Robinet, Christel; Vekemans, Michel; Attié-Bitach, Tania

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

TMEM5 和 ISPD 基因突变被鉴定为严重鹅卵石样无脑回畸形的病因

Vuillaumier-Barrot, Sandrine; Bouchet-Séraphin, Céline; Chelbi, Malika; Devisme, Louise; Quentin, Samuel; Gazal, Steven; Laquerrière, Annie; Fallet-Bianco, Catherine; Loget, Philippe; Odent, Sylvie; Carles, Dominique; Bazin, Anne; Aziza, Jacqueline; Clemenson, Alix; Guimiot, Fabien; Bonnière, Maryse; Monnot, Sophie; Bole-Feysot, Christine; Bernard, Jean-Pierre; Loeuillet, Laurence; Gonzales, Marie; Socha, Koryna; Grandchamp, Bernard; Attié-Bitach, Tania; Encha-Razavi, Férechté; Seta, Nathalie