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MeSH:(Hydrocephalus/genetics*)

1.Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia.

Chongfen CHEN ; Yaodong ZHANG ; Lili GE ; Lei LIU ; Xiaoman ZHANG ; Shiyue MEI ; Shuying LUO

Chinese Journal of Medical Genetics 2023;40(9):1086-1092

2.Analysis of L1CAM gene mutation in pedigrees with X-linked genetic hydrocephalus.

Shuang HU ; Li WANG ; Ning LIU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2019;36(5):465-467

3.β-Catenin Deletion in Regional Neural Progenitors Leads to Congenital Hydrocephalus in Mice.

Lin MA ; Yanhua DU ; Xiangjie XU ; Hexi FENG ; Yi HUI ; Nan LI ; Guanyu JIANG ; Xiaoqing ZHANG ; Xiaocui LI ; Ling LIU

Neuroscience Bulletin 2022;38(1):81-94

4.Research advances on associated genes and pathogenesis of hydrocephalus.

Jia-jun ZHOU ; Mei-ping DING ; Jian-ren LIU

Journal of Zhejiang University. Medical sciences 2010;39(6):644-649

5.Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene.

Lulu YAN ; Yifan HUO ; Yingwen LIU ; Yuxin ZHANG ; Chunxiao HAN ; Juan CAO ; Haibo LI

Chinese Journal of Medical Genetics 2023;40(11):1330-1333

6.Analysis of a pedigree affected with HSAS syndrome due to a noval variant of L1CAM gene.

Zhidan HONG ; Ling MA ; Yanhong MAO

Chinese Journal of Medical Genetics 2021;38(1):83-86

7.Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene.

Qichang WU ; Li SUN ; Yasong XU ; Xiaomei YANG ; Shiyu SUN ; Wenbo WANG

Chinese Journal of Medical Genetics 2019;36(9):897-900

8.Dscam mutation leads to hydrocephalus and decreased motor function.

Yiliang XU ; Haihong YE ; Yan SHEN ; Qi XU ; Li ZHU ; Jianghong LIU ; Jane Y WU

Protein & Cell 2011;2(8):647-655

9.Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly.

Zhouzhou LI ; Fang FU ; Tingying LEI ; Ru LI ; Xiangyi JING ; Xin YANG ; Jin HAN ; Min PAN ; Li ZHEN ; Can LIAO

Chinese Journal of Medical Genetics 2017;34(4):576-582

10.Correlation of fetal ventriculomegaly with copy number variations and pregnancy outcome.

Chunli GAO ; Juan DOU ; Shuiyan YANG

Chinese Journal of Medical Genetics 2021;38(12):1254-1257

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