Author

Liang-Pu Xu

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Review Open access Sep 2026

Prenatal and Postnatal Identification of Phelan–McDermid Syndrome in a Tertiary Referral Center: A 15-Case Series and Literature Review

Objectives: To characterize the clinical and genetic features of Phelan–McDermid syndrome (PMS) in a Chinese prenatal and postnatal cohort, explore genotype–phenotype correlations, and provide evidence to support prenatal genetic counseling. Methods: G-banded karyotyping, single-nucleotide polymorphism arrays (SNP arra...

Hui-Li Xue, Yi-Fang Dai, Xiang-Lan Ye et al. · Journal of Clinical Medicine · 0 citations

Review Open access Jan 2026

Prenatal Evaluation of Genetic Abnormalities in Fetuses With Single Umbilical Artery: A Retrospective Cohort Study

Objective To investigate the genetic factors associated with fetal single umbilical artery (SUA) and concomitant structural anomalies. Methods A retrospective review was performed on the ultrasound characteristics of 375 SUA fetuses diagnosed by color Doppler ultrasound at Fujian Provincial Maternity and Children’s Hos...

Yuqing Chen, Xiao-Qing Wu, Meiying Cai et al. · Genetics Research · 0 citations

Open access Jul 2026

METTL1-mediated N7-methylguanosine epitranscriptomic alterations modulate mRNA stability of neurodegenerative disease-associated genes following cobalt exposure.

A pivotal role for m7G modification in environmental neurotoxicant-induced neurodegeneration is established and cobalt-related RNA regulatory paradigm is revealed that expands the understanding of heavy metal-driven epitranscriptomic dysregulation, and hence offering novel therapeutic targets.

Jianping Tang, Yanbin Ren, Jingwen Li et al. · Ecotoxicology and Environmen... · 1 citation