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

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

通过对驱动复杂性小眼畸形的调控变异的研究,深入了解 FOXE3 转录网络和疾病机制

Plaisancié Julie, Angée Clémentine, Erjavec Elisa, Raymond-Letron Isabelle, Douet Jean-Yves, Goetz Mathilde, Vincent-Delorme Catherine, Karemaker Ino D, Baltissen Marijke, Vermeulen Michiel, Valdivia Leonardo, Jabot-Hanin Fabienne, David Pierre, Hadjadj Djihad, Monsef Yanad Abou, Lyazrhi Faouzi, Calvas Patrick, Rozet Jean-Michel, Chassaing Nicolas, Fares-Taie Lucas

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

小鼠先天性小角膜缺失将 Sox21 失调与疾病联系起来,并表明 TGFB2 在青光眼和近视中发挥作用

Erjavec Elisa, Angée Clémentine, Hadjadj Djihad, Passet Bruno, David Pierre, Kostic Corinne, Dodé Emmanuel, Zanlonghi Xavier, Cagnard Nicolas, Nedelec Brigitte, Crippa Sylvain V, Bole-Feysot Christine, Zarhrate Mohammed, Creuzet Sophie, Castille Johan, Vilotte Jean-Luc, Calvas Patrick, Plaisancié Julie, Chassaing Nicolas, Kaplan Josseline, Rozet Jean-Michel, Fares Taie L

Biology and Management of High-Grade Chondrosarcoma: An Update on Targets and Treatment Options

高级别软骨肉瘤的生物学特性及治疗管理:靶点和治疗方案的最新进展

Tlemsani, Camille; Larousserie, Frédérique; De Percin, Sixtine; Audard, Virginie; Hadjadj, Djihad; Chen, Jeanne; Biau, David; Anract, Philippe; Terris, Benoit; Goldwasser, François; Pasmant, Eric; Boudou-Rouquette, Pascaline

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

关于NF1基因内倒位作为1型神经纤维瘤病致病机制的评论

Pacot, Laurence; Chansavang, Albain; Jacques, Sébastien; Laurendeau, Ingrid; Hadjadj, Djihad; Ferkal, Salah; Wolkenstein, Pierre; Vidaud, Dominique; Pasmant, Eric

Efficient, quick and easy-to-use DNA replication timing analysis with START-R suite

START-R 套件可实现高效、快速且易于使用的 DNA 复制时间分析。

Hadjadj, Djihad; Denecker, Thomas; Guérin, Eva; Kim, Su-Jung; Fauchereau, Fabien; Baldacci, Giuseppe; Maric, Chrystelle; Cadoret, Jean-Charles

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

SETD2基因突变和影响组蛋白H3K36甲基化的基因突变是半球高级别胶质瘤的靶点。

Fontebasso, Adam M; Schwartzentruber, Jeremy; Khuong-Quang, Dong-Anh; Liu, Xiao-Yang; Sturm, Dominik; Korshunov, Andrey; Jones, David T W; Witt, Hendrik; Kool, Marcel; Albrecht, Steffen; Fleming, Adam; Hadjadj, Djihad; Busche, Stephan; Lepage, Pierre; Montpetit, Alexandre; Staffa, Alfredo; Gerges, Noha; Zakrzewska, Magdalena; Zakrzewski, Krzystof; Liberski, Pawel P; Hauser, Peter; Garami, Miklos; Klekner, Almos; Bognar, Laszlo; Zadeh, Gelareh; Faury, Damien; Pfister, Stefan M; Jabado, Nada; Majewski, Jacek