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

Deciphering the Impact of AKT1 Pathogenic Variants in Juvenile Granulosa Cell Tumors Using a Drosophila Model

利用果蝇模型解析AKT1致病变异对幼年颗粒细胞瘤的影响

Veitia, Reiner A; Herman, Laetitia; Legois, Bérangère; Claret, Sandra; Zider, Alain; Todeschini, Anne-Laure

Gene Dosage Sensitivity and Human Genetic Diseases

基因剂量敏感性与人类遗传疾病

Veitia, Reiner A; Zschocke, Johannes; Birchler, James A

A cellular model provides insights into the pathogenicity of the oncogenic FOXL2 somatic variant p.Cys134Trp

细胞模型为了解致癌 FOXL2 体细胞变异 p.Cys134Trp 的致病性提供了见解

Laetitia Herman, Angélique Amo, Berangère Legois, Caterina Di Carlo, Reiner A Veitia, Anne-Laure Todeschini

The forkhead DNA-binding domain binds specific G2-rich RNA sequences

叉头 DNA 结合域可结合特定的富含 G2 的 RNA 序列

Caroline Zutterling, Anne-Laure Todeschini, Deborah Fourmy, Didier Busso, Xavier Veaute, Frédéric Ducongé, Reiner A Veitia

Recurrent missense variants in clonal hematopoiesis-related genes present in the general population

一般人群中存在的克隆性造血相关基因的复发性错义变异

Ariste, Olivier; de la Grange, Pierre; Veitia, Reiner A

A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions

与原发性卵巢功能不全相关的 RAD51B 截短变体提供了对其减数分裂和体细胞功能的见解

Monica M Franca #, Yazmine B Condezo #, Maëva Elzaiat #, Natalia Felipe-Medina, Fernando Sánchez-Sáez, Sergio Muñoz, Raquel Sainz-Urruela, M Rosario Martín-Hervás, Rodrigo García-Valiente, Manuel A Sánchez-Martín, Aurora Astudillo, Juan Mendez, Elena Llano, Reiner A Veitia, Berenice B Mendonca, Albe

Abnormalities in Cortical GABAergic Interneurons of the Primary Motor Cortex Caused by Lis1 (Pafah1b1) Mutation Produce a Non-drastic Functional Phenotype

Lis1(Pafah1b1)突变导致初级运动皮层皮质 GABA 能中间神经元异常,产生非剧烈的功能表型

E Domínguez-Sala, L Valdés-Sánchez, S Canals, O Reiner, A Pombero, R García-López, A Estirado, D Pastor, E Geijo-Barrientos, S Martínez

Reply to "An alternative miRISC targets a cancer-associated coding sequence mutation in FOXL2"

回复“另一种 miRISC 靶向 FOXL2 中与癌症相关的编码序列突变”

Veitia, Reiner A; Pilsworth, Jessica; Todeschini, Anne-Laure; Huntsman, David

A reply to: Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

回复:老年男性外周血细胞中Y染色体嵌合体丢失频率的纵向变化在个体间差异显著

Veitia, Reiner A

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Reiner, A; Kolb, R; Reiner, G; Jakesz, R; Schemper, M; Spona, J; Riehl, Anna