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

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France

PERIGENOMED-CLINICS 1——首个关于 PERIGENOMED 可行性、接受度和心理社会影响的研究:一项旨在为基于基因组测序的筛查方法在法国新生儿筛查 (NBS) 中的相关性提供初步具体证据的试点项目

Level, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frédéric; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlène; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Véronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Léa; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stéphane; Pasquier, Laurent; Huet, Frédéric; Faivre, Laurence

Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.

Sonic Hedgehog依赖性蝶骨缺损对颅面生长的影响

Guyodo Hélène, Rizzo Aurélie, Diab Farah, Noury Fanny, Mironov Svetlana, de Tayrac Marie, David Véronique, Odent Sylvie, Dubourg Christèle, Dupé Valérie

A framework for validating AI in precision medicine: considerations from the European ITFoC consortium

人工智能在精准医疗中验证的框架:来自欧洲ITFoC联盟的思考

Tsopra, Rosy; Fernandez, Xose; Luchinat, Claudio; Alberghina, Lilia; Lehrach, Hans; Vanoni, Marco; Dreher, Felix; Sezerman, O Ugur; Cuggia, Marc; de Tayrac, Marie; Miklasevics, Edvins; Itu, Lucian Mihai; Geanta, Marius; Ogilvie, Lesley; Godey, Florence; Boldisor, Cristian Nicolae; Campillo-Gimenez, Boris; Cioroboiu, Cosmina; Ciusdel, Costin Florian; Coman, Simona; Hijano Cubelos, Oliver; Itu, Alina; Lange, Bodo; Le Gallo, Matthieu; Lespagnol, Alexandra; Mauri, Giancarlo; Soykam, H Okan; Rance, Bastien; Turano, Paola; Tenori, Leonardo; Vignoli, Alessia; Wierling, Christoph; Benhabiles, Nora; Burgun, Anita

Depicting the genetic architecture of pediatric cancers through an integrative gene network approach

通过整合基因网络方法描绘儿童癌症的遗传结构

Savary, Clara; Kim, Artem; Lespagnol, Alexandra; Gandemer, Virginie; Pellier, Isabelle; Andrieu, Charlotte; Pagès, Gilles; Galibert, Marie-Dominique; Blum, Yuna; de Tayrac, Marie

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

通过外显子组测序意外诊断出一名患有慢性肠假性梗阻的婴儿患有I型粘多糖贮积症。

Cospain, Auriane; Dubourg, Christèle; Gastineau, Swellen; Pichard, Samia; Gandemer, Virginie; Bonneau, Jacinthe; de Tayrac, Marie; Moreau, Caroline; Odent, Sylvie; Pasquier, Laurent; Damaj, Lena; Lavillaureix, Alinoë

IGHV segment utilization in immunoglobulin gene rearrangement differentiates patients with anti-myelin-associated glycoprotein neuropathy from others immunoglobulin M-gammopathies

免疫球蛋白基因重排中IGHV片段的利用情况可将抗髓鞘相关糖蛋白神经病患者与其他免疫球蛋白M丙种球蛋白病患者区分开来。

Allain, Jean-Sebastien; Thonier, Florian; Pihan, Morgane; Boulland, Marie-Laure; de Guibert, Sophie; Launay, Vincent; Doncker, Anne-Violaine; Ganard, Michel; Aliouat, Amyra; Pangault, Céline; Houot, Roch; De Tayrac, Marie; Lamy, Thierry; Roussel, Mikael; Fest, Thierry; Decaux, Olivier; Pastoret, Cedric

Impact of 9p deletion and p16, Cyclin D1, and Myc hyperexpression on the outcome of anaplastic oligodendrogliomas

9p缺失及p16、细胞周期蛋白D1和Myc高表达对间变性少突胶质细胞瘤预后的影响

Michaud, Karine; de Tayrac, Marie; D'Astous, Myreille; Paquet, Claudie; Gould, Peter Vincent; Saikali, Stéphan

Integration of transcriptome and proteome profiles in glioblastoma: looking for the missing link

胶质母细胞瘤转录组和蛋白质组谱的整合:寻找缺失的环节

Lemée, Jean-Michel; Clavreul, Anne; Aubry, Marc; Com, Emmanuelle; de Tayrac, Marie; Mosser, Jean; Menei, Philippe

Contribution of 1p, 19q, 9p and 10q Automated Analysis by FISH to the Diagnosis and Prognosis of Oligodendroglial Tumors According to WHO 2016 Guidelines

根据 WHO 2016 指南,FISH 自动分析 1p、19q、9p 和 10q 对少突胶质细胞瘤诊断和预后的影响

Michaud, Karine; de Tayrac, Marie; D'Astous, Myreille; Duval, Céline; Paquet, Claudie; Samassekou, Oumar; Gould, Peter Vincent; Saikali, Stéphan

Correction: From the core to beyond the margin: a genomic picture of glioblastoma intratumor heterogeneity

更正:从核心到边缘之外:胶质母细胞瘤肿瘤内异质性的基因组图谱

Aubry, Marc; de Tayrac, Marie; Etcheverry, Amandine; Clavreul, Anne; Saikali, Stéphan; Menei, Philippe; Mosser, Jean