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

Investigation of LBX1, TIMP2, GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients

青少年特发性脊柱侧弯患者LBX1、TIMP2、GPR126和CHD7基因多态性的研究

Bilgin, Erkan; Tezcan Unlu, Havva; Cecener, Gulsah; Aymelek, Huri Sema; Bilgin, Yucel; Akesen, Burak

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

从患有 CHARGE 综合征且无胸腺的患者体内生成诱导多能干细胞,该患者携带 CHD7 杂合突变。

Zhao Jin, Hu Rong, Lai Kuan Chen, Liu Yaling, Carmichael Gordon G, Martin Donna M, Lai Laijun

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant

患有 CHARGE 综合征和致病性 CHD7 变异体的个体出现先天性高胰岛素血症

Ibeas, Consuelo; Giraudo, Franco; Männistö, Jonna M E; Flanagan, Sarah E; Mericq, Verónica

[Kallmann syndrome in a girl caused by a novel CHD7 variant]

[由新型 CHD7 变异引起的卡尔曼综合征女孩病例]

Sun, Rui-Jie; Zhang, Xing-Xing

CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells

CHD7调控人类胚胎干细胞的内胚层和中胚层最终发育

Hu, Rong; Zhao, Jin; Lai, Kuan Chen; Wang, Shikun; Zheng, Jianqing; Stoddard, Christopher; Lai, Laijun

CHD7 regulates cardiac neural crest cell differentiation through SOX5-mediated self-activation

CHD7通过SOX5介导的自身激活来调控心脏神经嵴细胞分化

Shun Yan,Andrey Bombin,Weiwei Liu,Yeimy Gonzalez-Giraldo,Feng Zhou,Huidong Shi,Qin Wang,Kai Jiao

Kismet/CHD7/CHD8 affects gut microbiota, mechanics, and the gut-brain axis in Drosophila melanogaster

Kismet/CHD7/CHD8 基因影响果蝇的肠道菌群、肠道力学以及肠-脑轴。

Niosi, Angelo; Võ, Nguyên Henry; Sundaramurthy, Punithavathi; Welch, Chloe; Penn, Aliyah; Yuldasheva, Yelena; Alfareh, Adam; Rausch, Kaitlyn; Amin-Rahbar, Takhmina; Cavanaugh, Jeffery; Yadav, Prince; Peterson, Stephanie; Brown, Raina; Hu, Alain; Ardon-Castro, Any; Nguyen, Darren; Crawford, Robert; Lee, Wendy; Morris, Eliza J; Jensen, Mikkel Herholdt; Mulligan, Kimberly

Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child

一名幼童患有额叶轴内神经鞘瘤,该肿瘤携带 CHD7::VGLL3 融合基因和 TSC2 p.F1510del 杂合突变。

Nguyen, Anthony V; Berger, Blaine H; Abdullaev, Zied; Gearhart, Samuel; Castro-Echeverry, Eduardo; Aldape, Kenneth; Trumble, Eric; Lehman, Norman L

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review

一例CHARGE综合征早产儿新发CHD7变异,最初诊断为特发性低促性腺激素性性腺功能减退症:病例报告及文献综述

Wu, Jiaxi; Huang, Zhuo; Zhu, Binlu; Zou, Rong; Tan, Yu; Yao, Wencong; Yang, Yi; Xiong, Tao

Correction: De Novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review

更正:CHARGE综合征早产儿中新发CHD7变异,最初诊断为特发性低促性腺激素性性腺功能减退症:病例报告及文献综述

Wu, Jiaxi; Huang, Zhuo; Zhu, Binlu; Zou, Rong; Tan, Yu; Yao, Wencong; Yang, Yi; Xiong, Tao