Publications by authors named "Fengyu Che"

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Visualizing NEK9 in action: aptamer-based fluorescent probes for real-time live-cell imaging.
Liyu Zhang, Ying Yang, Lidangzhi Mo, Fengyu Che, Benchang Li, Chenlu Zhang

Nucleosides Nucleotides Nucleic Acids· September 2025

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Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.
Xiaoling Tie, Fengyu Che, Siting Liu, Lidangzhi Mo, Liyu Zhang

Am J Med Genet A· March 2025

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[Clinical features and genetic analysis of a child with Congenital disorder of glycosylation due to novel variants of COG6 gene].
Liyu Zhang, Ying Yang, Fengyu Che, Benchang Li, Lidangzhi Mo

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· November 2024

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[Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter syndrome].
Benchang Li, Fengyu Che, Lidangzhi Mo, Liyu Zhang, Guoxia Wang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· August 2024

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Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.
Fengyu Che, Chenhao Li, Liyu Zhang, Chenxi Qian, Lidangzhi Mo

J Appl Genet· May 2024

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Correction to: Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.
Fengyu Che, Chenhao Li, Liyu Zhang, Chenxi Qian, Lidangzhi Mo

J Appl Genet· May 2024

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A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Lidangzhi Mo, Xiaoling Tie, Fengyu Che, Liyu Zhang, Benchang Li

Pediatr Neurol· March 2024

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Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.
Wendi Huang, Ying Yang, Fengyu Che, Haibin Wu, Ying Ma

Neurogenetics· January 2024

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Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient.
Benchang Li, Yafei Zhou, Fengyu Che, Rui Zhou, Lidangzhi Mo

Stem Cell Res· September 2023

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Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.
Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge

Mol Cytogenet· June 2023

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[Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
Qiong Wang, Ying Yang, Lili Liu, Xiaoling Tie, Haihong Lei, Fengyu Che

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2022

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Identification of two novel variants of the gene in two Chinese pedigrees associated with neurodevelopmental disorders.
Fengyu Che, Xiaoling Tie, Hong Lei, Xi Zhang, Mingyue Duan

Front Mol Neurosci· September 2022

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First report of paternal uniparental disomy of chromosome 8 with mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
Siyu Zhao, Fengyu Che, Le Yang, Yanyan Zheng, Dong Wang

Front Genet· September 2022

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[Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome].
Xiaoling Tie, Ying Yang, Chunxia He, Liyu Zhang, Fengyu Che

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· August 2022

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[Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1].
Fengyu Che, Ying Yang, Liyu Zhang, Xiaoling Tie

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· August 2022

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[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease].
Pan Liu, Fengyu Che, Chang Shu, Yarong Li, Xiaoguai Liu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· April 2022

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A Novel Heterozygous Pathogenic Variation in Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family.
Fengyu Che, Jiangang Zhao, Yujuan Zhao, Zhi Wang, Liyu Zhang

Front Genet· January 2022

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A GD2-aptamer-mediated, self-assembling nanomedicine for targeted multiple treatments in neuroblastoma theranostics.
Liyu Zhang, Meng Wang, Zeen Zhu, Shengquan Chen, Haibin Wu, Fengyu Che

Mol Ther Nucleic Acids· December 2021

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[Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency].
Mali Li, Fengyu Che, Shichao Qiu, Zhihua Wang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2021

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[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].
Fengyu Che, Chunxia He, Liyu Zhang, Xiaopeng Gao, Yarong Li

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· November 2021

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CD123 thioaptamer protects against sepsis via the blockade between IL-3/CD123 in a cecal ligation and puncture rat model.
Jiangang Zhao, Meng Wang, Ying Yang, Guoxia Wang, Fengyu Che

Nucleosides Nucleotides Nucleic Acids· June 2021

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[Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome].
Huijing Wei, Pan Liu, Xiaokang Peng, Yarong Li, Fengyu Che

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· June 2021

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A Novel pH-Sensitive Multifunctional DNA Nanomedicine: An Enhanced and Harmless GD2 Aptamer-Mediated Strategy for Guiding Neuroblastoma Antitumor Therapy.
Liyu Zhang, Meng Wang, Zeen Zhu, Chenxi Ding, Shengquan Chen, Fengyu Che

Int J Nanomedicine· May 2021

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Novel Compound Heterozygous Pathogenic Variants in Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.
Jiangang Zhao, Yao An, Haoxiang Jiang, Haibin Wu, Fengyu Che

Front Genet· May 2021

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[Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case].
Fengyu Che, Ying Yang, Zhi Wang, Guoxia Wang, Haibin Wu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· February 2021

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