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

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

DOCK4 杂合功能丧失变异导致神经发育迟缓和小头畸形

Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H C Horn, Anna C E Hurst, Melissa A Kelly, Michael C Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R Mark, Markus Morawski, Mathilde N

When Hemorrhage Hides a Fetal Brain Tumor, Importance of Fetal Autopsy

当出血掩盖胎儿脑瘤时,胎儿尸检的重要性

Comba, Claire; Sartor, Agnès; Laquerriere, Annie; Sevely, Annick; Raveneau, Magalie; Chaix, Yves; Ousselin, Jessie; Aziza, Jacqueline; Dubucs, Charlotte

Phenotype and imaging features associated with APP duplications

与APP基因重复相关的表型和影像学特征

Grangeon, Lou; Charbonnier, Camille; Zarea, Aline; Rousseau, Stephane; Rovelet-Lecrux, Anne; Bendetowicz, David; Lemaitre, Marion; Malrain, Cécile; Quillard-Muraine, Muriel; Cassinari, Kevin; Maltete, David; Pariente, Jeremie; Moreaud, Olivier; Magnin, Eloi; Cretin, Benjamin; Mackowiak, Marie-Anne; Sillaire, Adeline Rollin; Vercelletto, Martine; Dionet, Elsa; Felician, Olivier; Rod-Olivieri, Pauline; Thomas-Antérion, Catherine; Godeneche, Gaelle; Sauvée, Mathilde; Cartz-Piver, Leslie; Le Ber, Isabelle; Chauvire, Valérie; Jonveaux, Therèse; Balageas, Anna-Chloé; Laquerriere, Annie; Duyckaerts, Charles; Vital, Anne; de Paula, Andre Maues; Meyronet, David; Guyant-Marechal, Lucie; Hannequin, Didier; Tournier-Lasserve, Elisabeth; Campion, Dominique; Nicolas, Gaël; Wallon, David

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

GRIN1 和 GRIN2B 致病变异患者的重叠皮质畸形

Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina

Stronger than Ever: Multifilament Fiberglass Posts Boost Maxillary Premolar Fracture Resistance

强度更胜以往:多丝玻璃纤维桩增强上颌前磨牙抗折强度

Kharouf, Naji; Pedullà, Eugenio; Plotino, Gianluca; Jmal, Hamdi; Alloui, Mohammed-El-Habib; Simonis, Philippine; Laquerriere, Patrice; Macaluso, Valentina; Abdellatif, Dina; Richert, Raphaël; Haikel, Youssef; Mancino, Davide

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

未确诊先天性多发性关节挛缩症的表型谱和基因组学

Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

与CCDC88C致病变异相关的胎儿脑积水的神经病理学特征

Marguet, Florent; Vezain, Myriam; Marcorelles, Pascale; Audebert-Bellanger, Séverine; Cassinari, Kévin; Drouot, Nathalie; Chambon, Pascal; Gonzalez, Bruno J; Horowitz, Arie; Laquerriere, Annie; Saugier-Veber, Pascale

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

SCN1A 的新生突变是导致关节挛缩的原因,扩大了 SCN1A 相关表型

Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki

Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study

松果体母细胞瘤根据不同的临床病理特征分为不同的分子亚群:罕见脑肿瘤联盟注册研究

Bryan K Li, Alexandre Vasiljevic, Christelle Dufour, Fupan Yao, Ben L B Ho, Mei Lu, Eugene I Hwang, Sridharan Gururangan, Jordan R Hansford, Maryam Fouladi, Sumihito Nobusawa, Annie Laquerriere, Marie-Bernadette Delisle, Jason Fangusaro, Fabien Forest, Helen Toledano, Palma Solano-Paez, Sarah Leary,

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

胚胎发育过程中神经嵴中 PTEN 的嵌合体改变会导致多发性神经系统错构瘤。

Goldenberg, Alice; Marguet, Florent; Gilard, Vianney; Cardine, Aude-Marie; Hassani, Adnan; Doz, François; Radi, Sophie; Vasseur, Stéphanie; Bou, Jacqueline; Branchaud, Maud; Houdayer, Claude; Baert-Desurmont, Stéphanie; Laquerriere, Annie; Frebourg, Thierry