Publications by authors named "Yingxia Cui"

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[Live birth achieved by oocyte donation in a patient with 45,X/46,XY mixed gonadal dysgenesis: A case report and literature review].
Lu Zheng, Jin-Zhao Ma, Juan-Juan Xu, Ying-Xia Cui, Bing Yao

Zhonghua Nan Ke Xue· May 2024

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A mouse model for X-linked Alport syndrome induced by Del-ATGG in the gene.
Wei-Qing Wu, Jia-Xun Zhang, Ying-Xia Cui, Ming-Chao Zhang, Xiao-Hang Chen

Front Med (Lausanne)· March 2023

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Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.
Xing Lv, Wei-Qing Wu, Jia-Xun Zhang, Liu-Fei Miao, Bai-Zeng Yu, Ying-Xia Cui

Cytogenet Genome Res· September 2020

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Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Mingchao Zhang, Shuaimei Liu, Xinyi Xia, Yingxia Cui, Xiaojun Li

Nephrology (Carlton)· May 2019

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The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
Ang Li, Ying-Xia Cui, Xing Lv, Jian-Hong Liu, Er-Zhi Gao

Cytogenet Genome Res· June 2018

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Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.
Ang Li, Er-Zhi Gao, Ying-Xia Cui, Jian-Hong Liu, Xing Lv

Cytogenet Genome Res· April 2018

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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia

PLoS One· September 2017

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Polymorphisms of protamine genes contribute to male infertility susceptibility in the Chinese Han population.
Weijun Jiang, Peiran Zhu, Jing Zhang, Qiuyue Wu, Weiwei Li, Yingxia Cui

Oncotarget· September 2017

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The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.
Qiuyue Wu, Jing Zhang, Peiran Zhu, Weijun Jiang, Shuaimei Liu, Yingxia Cui

BMC Med Genet· August 2017

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The P20R mutation of αB-crystallin diminishes its anti-apoptotic activity in human lens epithelial cells.
Peiran Zhu, Weiwei Li, Mengxia Ni, Cui Zhang, Shuaimei Liu, Yingxia Cui

Biochem Biophys Res Commun· January 2017

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Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.
Yu-An Hu, Yingxia Cui, Xiaobo Fan, Qiuyue Wu, Weiwei Li

Mol Cytogenet· May 2016

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A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.
Xin-Yi Xia, Cui Zhang, Tian-Fu Li, Qiu-Yue Wu, Na Li, Ying-Xia Cui

Mol Med Rep· October 2015

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A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.
Yu-Chun Zhou, Cui Zhang, Jin-Sheng Zhai, Tian-Fu Li, Qiu-Yue Wu, Ying-Xia Cui

Mol Med Rep· July 2015

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A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.
Na Li, Jian Yu, Xiang Cao, Qiu-Yue Wu, Wei-Wei Li, Cui Zhang, Ying-Xia Cui

PLoS One· February 2015

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46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.
Tian-Fu Li, Qiu-Yue Wu, Cui Zhang, Wei-Wei Li, Qing Zhou, Ying-Xia Cui

BMC Urol· December 2014

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A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
Xin-Yi Xia, Qiu-Yue Wu, Li-Mei An, Wei-Wei Li, Na Li, Cui Zhang, Ying-Xia Cui

BMC Ophthalmol· September 2014

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A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
Xin-Yi Xia, Na Li, Xiang Cao, Qiu-Yue Wu, Tian-Fu Li, Cui Zhang, Ying-Xia Cui

BMC Med Genet· August 2014

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Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis.
Tian-Fu Li, Qiu-Yue Wu, Cui Zhang, Wei-Wei Li, Na Li, Ying-Xia Cui

Reprod Biol Endocrinol· August 2014

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Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.
Qiu-Yue Wu, Na Li, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui

BMC Urol· August 2014

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A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria.
Wei-Wei Li, Qiu-Yue Wu, Na Li, De-Quan Deng, Ru-Song Zhang, Ying-Xia Cui

J Genet· August 2014

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Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.
Qi Yao, Liu Wang, Bing Yao, Hongliu Gao, Weiwei Li, Yingxia Cui

Mol Cytogenet· July 2014

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A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
Xin-Yi Xia, Wei-Wei Li, Na Li, Qiu-Yue Wu, Ying-Xia Cui

Mol Med Rep· June 2014

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Meiotic chromosome behavior in a human male t(8;15) carrier.
Hanwei Jiang, Liu Wang, Yingxia Cui, Zhipeng Xu, Tonghang Guo

J Genet Genomics· March 2014

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A parthenogenetic maternal and double paternal contribution to an ovotesticular disorder of sex development.
Xin-Yi Xia, Wei-Ping Wang, Tian-Fu Li, Wei-Wei Li, Qiu-Yue Wu, Cui Zhang, Ying-Xia Cui

Mol Cytogenet· February 2014

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[Detection of DPY19L2 gene mutation in a globozoospermia patient].
Qiu-Yue Wu, Na Li, Tian-Fu Li, Wei-Wei Li, Cui Zhang, Ying-Xia Cui

Zhonghua Nan Ke Xue· November 2013

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