Publications by authors named "Libin Mei"

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Splice‑site variant c.3531+1G>T in in a family with osteogenesis imperfecta.
Yanru Huang, Yixi Zhou, Lutan Zhang, Ye Shen, Xingmei Yao, Libin Mei

Mol Med Rep· August 2025

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Preimplantation Genetic Testing in a Family with Neurofibromatosis Type 1.
Longmei Wang, Xuemei He, Xianjing Huang, Pingping Qiu, Hong Ji, Libin Mei

Genet Test Mol Biomarkers· March 2025

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Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.
Xuemei He, Yiyuan Zhang, Xianjing Huang, Pingping Qiu, Hong Ji, Libin Mei

Front Genet· October 2024

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Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation.
Li-Bin Mei, Yi-Yuan Zhang, Xian-Jing Huang, Hong Ji, Ping-Ping Qiu, Xuemei He

Yi Chuan· September 2024

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Preimplantation Genetic Testing Inhibits the Transmission of Pathogenic Variants Associated With Cerebral White Matter Disease.
Xianjing Huang, Pingping Qiu, Hong Ji, Yingying Shi, Ling Zhang, Longmei Wang, Libin Mei

Cureus· July 2024

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Day 2 versus day 3 embryo transfer in patients with fertilization and only one zygote with two pronuclei.
Yaping Ye, Hui Huang, Longmei Wang, Lu Ding, Libin Mei

J Int Med Res· March 2024

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Corrigendum: Mutations in associated with premature ovarian insufficiency in a Chinese population.
Libin Mei, Yanru Huang, Xiaoling Wu, Huang He, Ronghui Ye, XueMei He

Front Med (Lausanne)· September 2022

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Two novel biallelic mutations in in a patient affected by premature ovarian insufficiency.
Libin Mei, Lingling Huang, Yanru Huang, Xiaoling Wu, Huang He, Xuemei He

Mol Med Rep· February 2022

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Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the Gene: Mutations in Caused CSBS.
Fen-Fen Ou, Ming-Jie Li, Li-Bin Mei, Xin-Zhu Lin, Yan-An Wu

Front Pediatr· January 2022

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[Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation].
Libin Mei, Xuemei He, Haijie Gao, Yanru Huang, Xiaolin Wu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2021

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[Clinical and molecular genetic analysis of a patient with 3-M syndrome].
Yanru Huang, Libin Mei, Jian Zhang, Xiaolu Chen, Wenbo Wang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2021

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Turner syndrome with Xp deletions and rare endometrial abnormalities: A case report.
Lei Liang, Libin Mei, Yingying Shi, Lingling Huang, Zhiying Su, Xuemei He

Medicine (Baltimore)· November 2021

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Mutations in Associated With Premature Ovarian Insufficiency in a Chinese Population.
Libin Mei, Yanru Huang, Xiaoling Wu, Huang He, Ronghui Ye, XueMei He

Front Med (Lausanne)· October 2021

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A Novel Mutation in Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy.
Yanru Huang, Libin Mei, Yangdan Wang, Huiming Ye, Xiaomin Ma, Meijiao Cai

Front Genet· July 2021

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A familial analysis of two brothers with azoospermia caused by maternal 46,Y, t(X; 1) (q28; q21) chromosomal abnormality.
Youzhu Li, Yanwei Sha, Zijie Wei, Wensheng Liu, Libin Mei

Andrologia· February 2021

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Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
Yanwei Sha, Xiaoli Wei, Lu Ding, Zhiyong Ji, Libin Mei

J Hum Genet· November 2020

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[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].
Yu Zeng, Libin Mei, Lei Liang, Xuemei He, Haijie Gao

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2020

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DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
Yanwei Sha, Xiaoli Wei, Lu Ding, Libin Mei, Xianjing Huang

Ann Hum Genet· May 2020

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is identified as a novel candidate gene of severe asthenozoospermia.
Yanwei Sha, Yankai Xu, Xiaoli Wei, Wensheng Liu, Libin Mei

Syst Biol Reprod Med· December 2019

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Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).
Wensheng Liu, Yanwei Sha, Yang Li, Libin Mei, Shaobin Lin

J Med Genet· October 2019

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Novel IFT140 variants cause spermatogenic dysfunction in humans.
Xiong Wang, Yan-Wei Sha, Wen-Ting Wang, Yuan-Qing Cui, Jie Chen, Li-Bin Mei

Mol Genet Genomic Med· September 2019

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EIF4G1 is a novel candidate gene associated with severe asthenozoospermia.
Yanwei Sha, Wensheng Liu, Xianjing Huang, Yang Li, Zhiyong Ji, Libin Mei

Mol Genet Genomic Med· August 2019

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Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.
Libin Mei, Yanru Huang, Jing Chen, XueMei He, Shaobin Lin

Clin Chim Acta· June 2019

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DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
Yang Li, Yanwei Sha, Xiong Wang, Lu Ding, Wensheng Liu, Libin Mei

Clin Genet· May 2019

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[Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation].
Yanwei Sha, Libin Mei, Zhiyong Ji, Xu Wang, Shaobin Lin

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· April 2019

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