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

Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium

软物质物理学为心肌结构研究提供新见解:自动定量识别小梁心肌的拓扑缺陷

Auriau, Johanne; Usson, Yves; Jouk, Pierre-Simon

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

The Nematic Chiral Liquid Crystal Structure of the Cardiac Myoarchitecture: Disclinations and Topological Singularities

心肌结构的向列相手性液晶结构:取向和拓扑奇点

Auriau, Johanne; Usson, Yves; Jouk, Pierre-Simon

The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals

肌球蛋白心肌网被解释为向列相手性液晶的生物学类似物

Jouk, Pierre-Simon; Usson, Yves

High Activation of the AKT Pathway in Human Multicystic Renal Dysplasia

人类多囊肾发育不良中 AKT 通路高度活跃

Alexia Apostolou, Brice Poreau, Loris Delrieu, Julien Thévenon, Pierre-Simon Jouk, Guillaume Lallemand, Anouk Emadali, Herve Sartelet

Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period

围产期法洛四联症肌层结构的偏振光成像

Truong, Ba Luu; Jouk, Pierre-Simon; Auriau, Johanne; Michalowicz, Gabrielle; Usson, Yves

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

CHARGE综合征:利用生物信息学工具和微基因检测分析CHD7 IVS25中反复出现的突变热点

Legendre, Marine; Rodriguez-Ballesteros, Montserrat; Rossi, Massimiliano; Abadie, Véronique; Amiel, Jeanne; Revencu, Nicole; Blanchet, Patricia; Brioude, Frédéric; Delrue, Marie-Ange; Doubaj, Yassamine; Sefiani, Abdelaziz; Francannet, Christine; Holder-Espinasse, Muriel; Jouk, Pierre-Simon; Julia, Sophie; Melki, Judith; Mur, Sébastien; Naudion, Sophie; Fabre-Teste, Jennifer; Busa, Tiffany; Stamm, Stephen; Lyonnet, Stanislas; Attie-Bitach, Tania; Kitzis, Alain; Gilbert-Dussardier, Brigitte; Bilan, Frédéric

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

9q33.3q34.11微缺失:一种新的邻近基因综合征,包含STXBP1、LMX1B和ENG基因,采用反向表型分析进行评估

Nambot, Sophie; Masurel, Alice; El Chehadeh, Salima; Mosca-Boidron, Anne-Laure; Thauvin-Robinet, Christel; Lefebvre, Mathilde; Marle, Nathalie; Thevenon, Julien; Perez-Martin, Stéphanie; Dulieu, Véronique; Huet, Frédéric; Plessis, Ghislaine; Andrieux, Joris; Jouk, Pierre-Simon; Billy-Lopez, Gipsy; Coutton, Charles; Morice-Picard, Fanny; Delrue, Marie-Ange; Heron, Delphine; Rooryck, Caroline; Goldenberg, Alice; Saugier-Veber, Pascale; Joly-Hélas, Géraldine; Calenda, Patricia; Kuentz, Paul; Manouvrier-Hanu, Sylvie; Dupuis-Girod, Sophie; Callier, Patrick; Faivre, Laurence

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

DNAH1 基因突变(编码内臂重链动力蛋白)会导致精子鞭毛出现多种形态异常,从而导致男性不育

Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari, Thomas Karaouzène, John Rendu, Marie Bidart, Sandra Yassine, Virginie Pierre, Julie Delaroche, Sylviane Hennebicq, Didier Grunwald, Denise Escalier, Karine Pernet-Gallay, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, 

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

Currarino综合征和HPE微型型与7q36.3区域2.7 Mb缺失(不包括SHH基因)相关。

Coutton, C; Poreau, B; Devillard, F; Durand, C; Odent, S; Rozel, C; Vieville, G; Amblard, F; Jouk, P-S; Satre, V