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

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene

放射状小脑畸形(小脑畸形)是由RTTN基因的复发性变异引起的。

Gins, Clarisse; Guimiot, Fabien; Drunat, Séverine; Prévost, Clemence; Rosenblatt, Jonathan; Capri, Yline; Letard, Pascaline; Khung-Savatovsky, Suonavy; Mahi Henni, Mohamed Amine; Elalaoui, Siham Chafai; Alison, Marianne; Guilmin Crepon, Sophie; Gressens, Pierre; Verloes, Alain; Basto, Renata; El Ghouzzi, Vincent; Passemard, Sandrine

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia

MPDZ致病变异导致梗阻性脑室扩大,与间脑融合和第三脑室闭锁相关

Cabet, Sara; Ghersi-Egea, Jean-François; Khung-Savatovsky, Suonavy; Guimiot, Fabien; Putoux, Audrey; Sabatier, Isabelle; Fernandez, Carla; Raymond, Laure; Mortreux, Jérémie; Laurichesse Delmas, Hélène; Cuillier, Fabrice Eric; Ho, Fabien; Lesca, Gaetan; Alessandri, Jean-Luc; Guibaud, Laurent

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

Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults

海马放射状胶质细胞亚型及其在人类胎儿、健康和阿尔茨海默病成人中的神经发生潜力

Sara Cipriani, Isidre Ferrer, Eleonora Aronica, Gabor G Kovacs, Catherine Verney, Jeannette Nardelli, Suonavy Khung, Anne-Lise Delezoide, Ivan Milenkovic, Sowmyalakshmi Rasika, Philippe Manivet, Jean-Louis Benifla, Nicolas Deriot, Pierre Gressens, Homa Adle-Biassette

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

由EFEMP2基因中一种新的纯合无义突变引起的1B型皮肤松弛症严重表型伴产前症状

Letard, Pascaline; Schepers, Dorien; Albuisson, Juliette; Bruneval, Patrick; Spaggiari, Emmanuel; Van de Beek, Gerarda; Khung-Savatovsky, Suonavy; Belarbi, Nadia; Capri, Yline; Delezoide, Anne-Lise; Loeys, Bart; Guimiot, Fabien

First case of pregnant women bacteraemia and probable early-onset neonatal infection due to Aerococcus urinae

首例由尿气球菌引起的孕妇菌血症及可能早期新生儿感染病例

Jost, Christelle; Breton, Bénedicte; Biran, Valérie; Khung, Suonavy; Chekroune, Sarah; Bonacorsi, Stéphane

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

梅克尔综合征和朱伯特综合征中的CC2D2A基因突变表明存在基因型-表型相关性。

Mougou-Zerelli, Soumaya; Thomas, Sophie; Szenker, Emmanuelle; Audollent, Sophie; Elkhartoufi, Nadia; Babarit, Candice; Romano, Stéphane; Salomon, Rémi; Amiel, Jeanne; Esculpavit, Chantal; Gonzales, Marie; Escudier, Estelle; Leheup, Bruno; Loget, Philippe; Odent, Sylvie; Roume, Joëlle; Gérard, Marion; Delezoide, Anne-Lise; Khung, Suonavy; Patrier, Sophie; Cordier, Marie-Pierre; Bouvier, Raymonde; Martinovic, Jéléna; Gubler, Marie-Claire; Boddaert, Nathalie; Munnich, Arnold; Encha-Razavi, Férechté; Valente, Enza Maria; Saad, Ali; Saunier, Sophie; Vekemans, Michel; Attié-Bitach, Tania