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

Response to Berge et al.: Comment on the Importance of S100A4 in Regulation of MMP-13

对 Berge 等人的回应:关于 S100A4 在 MMP-13 调控中的重要性的评论

Bandiera, S; Hanein, S; Lyonnet, S; Henrion-Caude, Alexandra; Miranda, Keally J; Loeser, Richard F; Yammani, Raghunatha R

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

基于芯片的比较基因组杂交技术在综合征型自闭症谱系障碍患者中发现了高频率的隐匿性染色体重排。

Jacquemont, M-L; Sanlaville, D; Redon, R; Raoul, O; Cormier-Daire, V; Lyonnet, S; Amiel, J; Le Merrer, M; Heron, D; de Blois, M-C; Prieur, M; Vekemans, M; Carter, N P; Munnich, A; Colleaux, L; Philippe, A

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

胎儿期 CHD7 截断突变所致 CHARGE 综合征的表型谱与人类发育过程中的表达相关

Sanlaville, D; Etchevers, H C; Gonzales, M; Martinovic, J; Clément-Ziza, M; Delezoide, A-L; Aubry, M-C; Pelet, A; Chemouny, S; Cruaud, C; Audollent, S; Esculpavit, C; Goudefroye, G; Ozilou, C; Fredouille, C; Joye, N; Morichon-Delvallez, N; Dumez, Y; Weissenbach, J; Munnich, A; Amiel, J; Encha-Razavi, F; Lyonnet, S; Vekemans, M; Attié-Bitach, T

Estimating the age of rare disease mutations: the example of Triple-A syndrome

估算罕见病突变的年龄:以三A综合征为例

Genin, E; Tullio-Pelet, A; Begeot, F; Lyonnet, S; Abel, L

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

科内莉亚·德·兰格综合征中的NIPBL基因突变和遗传异质性

Borck, G; Redon, R; Sanlaville, D; Rio, M; Prieur, M; Lyonnet, S; Vekemans, M; Carter, N P; Munnich, A; Colleaux, L; Cormier-Daire, V

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

人类MID1基因的胚胎表达及其在奥皮茨综合征中的突变

Pinson, L; Augé, J; Audollent, S; Mattéi, G; Etchevers, H; Gigarel, N; Razavi, F; Lacombe, D; Odent, S; Le Merrer, M; Amiel, J; Munnich, A; Meroni, G; Lyonnet, S; Vekemans, M; Attié-Bitach, T

Vagal overactivity: a risk factor of sudden infant death syndrome?

迷走神经过度活跃:是婴儿猝死综合征的危险因素吗?

Shojaei-Brosseau, T; Bonaïti-Pellie, C; Lyonnet, S; Feingold, J; Lucet, V

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

自动荧光基因分型可检测出特发性综合征性智力低下患者中10%的隐匿性亚端粒重排。

Rio, M; Molinari, F; Heuertz, S; Ozilou, C; Gosset, P; Raoul, O; Cormier-Daire, V; Amiel, J; Lyonnet, S; Le Merrer, M; Turleau, C; de Blois, M-C; Prieur, M; Romana, S; Vekemans, M; Munnich, A; Colleaux, L

B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

三代家族成员出现细胞免疫缺陷、肢体远端异常和泌尿生殖系统畸形:一种新的常染色体显性遗传综合征?

Edery, P; Le Deist, F; Briard, M L; Debré, M; Munnich, A; Griscelli, C; Fischer, A; Lyonnet, S

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

GDNF作为1型神经纤维瘤病(NF1)肠道表型的候选修饰因子

Bahuau, M; Pelet, A; Vidaud, D; Lamireau, T; LeBail, B; Munnich, A; Vidaud, M; Lyonnet, S; Lacombe, D