Publications by authors named "Mei Shiyue"

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Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.
Daoqi Mei, Yu Gu, Bingbing Zhang, Shiyue Mei, Xiaona Wang

Orphanet J Rare Dis· August 2025

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X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.
Rongtao Zhao, Zhuo Zhang, Shiyue Mei, Li Sun, Qianlu Zhang

J Clin Immunol· February 2025

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[Clinical features and genetic analysis of three patients with Infantile liver failure syndrome type 2 due to variants of NBAS gene].
Suli Li, Zhidan Yu, Xuan Zheng, Bingjie Quan, Yijing Liu, Shiyue Mei

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· January 2025

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[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].
Ying-Ying Sun, Hui Liu, Miao Liu, Shi-Yue Mei, Yan-Li Ma

Zhongguo Dang Dai Er Ke Za Zhi· December 2024

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[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].
Lili Ge, Jinghui Kong, Chongfen Chen, Zhiyi Xia, Shiyue Mei

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2024

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[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].
Linfei Li, Shuying Luo, Yaodong Zhang, Qing Shang, Wancun Zhang, Shiyue Mei

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2024

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[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].
Zhe Ding, Shiyue Mei, Bo Zhang, Jinghui Kong, Lei Liu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2024

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Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of .
Yuemei Liu, Hongling Wang, Yu Tang, Lei Zhang, Yanyan Su, Shiyue Mei

Front Pediatr· September 2024

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Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
Xiao-Man Zhang, Kai-Li Xu, Jing-Hui Kong, Geng Dong, Shi-Jie Dong

J Hum Genet· May 2024

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Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.
Zhi Lei, Xiaorui Song, Xuan Zheng, Yanhong Wang, Yingyuan Wang, Shiyue Mei

Mol Genet Genomic Med· May 2024

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[Clinical characteristics of children on prolonged mechanical ventilation due to different primary diseases].
Jun-Zhen Zhu, Zheng Li, Li-Dan Cui, Shi-Yue Mei, Xiao-Lei Li

Zhongguo Dang Dai Er Ke Za Zhi· May 2024

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De novo variants in are associated with early-onset epilepsy.
Juan Li, Shiyue Mei, Xiao Mao, Lily Wan, Hua Wang

J Med Genet· March 2024

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[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].
Suli Li, Zhidan Yu, Fang Zhou, Huan Wang, Yuesheng Wang, Shiyue Mei

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· February 2024

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Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1 mouse model of craniosynostosis.
ShuBin Feng, Qiang Feng, LiuJian Dong, Qiang Lv, ShiYue Mei

J Orthop Surg Res· February 2024

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[Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex].
Linfei Li, Shuying Luo, Yaodong Zhang, Qing Shang, Wancun Zhang, Shiyue Mei

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2023

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Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.
Lili Dong, Lei Zhang, Xiao Li, Shiyue Mei, Yuelin Shen

BMC Pediatr· December 2023

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Molecular typing of Mycoplasma pneumoniae and its correlation with macrolide resistance in children in Henan of China.
Pengbo Guo, Shiyue Mei, Yanhong Wang, Xuan Zheng, Lifeng Li

Indian J Med Microbiol· November 2023

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Influence of COVID-19 pandemic on the epidemiology of infections among hospitalized children in Henan, China.
Jiayue Ma, Pengbo Guo, Shiyue Mei, Mingchao Li, Zhidan Yu

Heliyon· November 2023

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[Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].
Linfei Li, Shuying Luo, Shiyue Mei, Qing Shang, Wancun Zhang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2023

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[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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· September 2023

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Impact of COVID-19 on the Epidemiological Features of Mycoplasma pneumoniae Infection in Children with Community-Acquired Pneumonia in Henan, China.
Lifeng Li, Pengbo Guo, Jiayue Ma, Huiqing Sun, Shiyue Mei

Microbiol Spectr· February 2023

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Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.
Chaonan Yu, Nan Lyn, Dongxiao Li, ShiYue Mei, Lei Liu

Eur J Med Genet· January 2023

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Expansion of the mutation spectrum and phenotype of -related neurodevelopmental disorder.
Hong Zheng, Shiyue Mei, Fuwei Li, Liwan Wei, Yanchu Wang

Front Mol Neurosci· November 2022

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HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
Yanhong Wang, Xuan Zheng, Chao Feng, Xiaoge Fan, Lei Liu, Shiyue Mei

Mol Genet Genomic Med· October 2022

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Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.
Jing Liu, Baiyun Chen, Yuchun Liu, Jinghui Kong, Bo Zhang, Shiyue Mei

Eur J Med Genet· September 2022

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