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

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis

相对可交换铜:一种高度特异性和敏感性的威尔逊病诊断生物标志物

Djebrani-Oussedik, Nouzha; Desjardins, Clément; Obadia, Mickaël Alexandre; Rahli, Djamila; Collet, Corinne; Woimant, France; Poupon, Joël; Debray, Dominique; Poujois, Aurélia

Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study

遗传因素和骨矿物质密度可预测成骨不全成年患者的骨折风险:一项前瞻性研究

Blandin, Camille; Collet, Corinne; Ostertag, Agnes; Funck-Brentano, Thomas; Cohen-Solal, Martine

Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis

SMAD6 变异对颅缝早闭症神经发育的影响

Verlut, Isabelle; Guernouche, Sofia; Rossi, Massimiliano; Szathmari, Alexandru; Beuriat, Pierre A; Chatron, Nicolas; Chauvel-Picard, Julie; Mottolese, Carmine; Monin, Pauline; Vinchon, Matthieu; Collet, Corinne; Di Rocco, Federico

The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis

斑马鱼发育过程中成骨细胞转录组揭示细胞外基质蛋白Col10a1a和Fbln1在骨骼发育和稳态中的关键作用

Raman, Ratish; Antony, Mishal; Nivelle, Renaud; Lavergne, Arnaud; Zappia, Jérémie; Guerrero-Limón, Gustavo; Caetano da Silva, Caroline; Kumari, Priyanka; Sojan, Jerry Maria; Degueldre, Christian; Bahri, Mohamed Ali; Ostertag, Agnes; Collet, Corinne; Cohen-Solal, Martine; Plenevaux, Alain; Henrotin, Yves; Renn, Jörg; Muller, Marc

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

KCNH5 电压感应和孔道结构域错义变异个体的神经发育和癫痫表型

Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E; Mefford, Heather C; Carvill, Gemma L

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

成对相关同源框1基因(PRRX1)的致病性变异会导致颅缝早闭,且外显率不完全。

Tooze, Rebecca S; Miller, Kerry A; Swagemakers, Sigrid M A; Calpena, Eduardo; McGowan, Simon J; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V; Noons, Peter; Ockeloen, Charlotte W; Phipps, Julie M; Tan, Tiong Yang; Timberlake, Andrew T; Vanlerberghe, Clemence; Wall, Steven A; Weber, Astrid; Wilson, Louise C; Zackai, Elaine H; Mathijssen, Irene M J; Twigg, Stephen R F; Wilkie, Andrew O M

Clinical interest of molecular study in cases of isolated midline craniosynostosis

分子研究在孤立性中线颅缝早闭病例中的临床意义

Di Rocco, Federico; Rossi, Massimiliano; Verlut, Isabelle; Szathmari, Alexandru; Beuriat, Pierre Aurélien; Chatron, Nicolas; Chauvel-Picard, Julie; Mottolese, Carmine; Monin, Pauline; Vinchon, Matthieu; Guernouche, Sofia; Collet, Corinne

A Zebrafish Mutant in the Extracellular Matrix Protein Gene efemp1 as a Model for Spinal Osteoarthritis

斑马鱼细胞外基质蛋白基因efemp1突变体作为脊柱骨关节炎模型

Raman, Ratish; Bahri, Mohamed Ali; Degueldre, Christian; Caetano da Silva, Caroline; Sanchez, Christelle; Ostertag, Agnes; Collet, Corinne; Cohen-Solal, Martine; Plenevaux, Alain; Henrotin, Yves; Muller, Marc

wnt11f2 Zebrafish, an Animal Model for Development and New Insights in Bone Formation

wnt11f2 斑马鱼,一种用于发育和骨骼形成新见解的动物模型

Caetano da Silva, Caroline; Ostertag, Agnes; Raman, Ratish; Muller, Marc; Cohen-Solal, Martine; Collet, Corinne