Works by Zhuang, Jianlong

Results: 35

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.

Published in:

European Journal of Medical Research, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s40001-025-02709-x

By:

Zhuang, Jianlong;
Fu, Wanyu;
Gu, Ling;
Ye, Xiaofang;
Wang, Junyu;
Chen, Chunnuan

Publication type:

Article

Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.

Published in:

2024

By:

Zhuang, Jianlong;
Zhang, Na;
Fu, Wanyu;
Jiang, Yuying;
Chen, Yu'e;
Chen, Chunnuan

Publication type:

Case Study

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.

Published in:

2023

By:

Zhuang, Jianlong;
Liu, Shufen;
Chen, Xinying;
Jiang, Yuying;
Chen, Chunnuan

Publication type:

Case Study

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Zhang, Hegan;
Fu, Wanyu;
Li, Yanqing;
Jiang, Yuying;
Zeng, Shuhong;
Wu, Xiaoxia;
Xie, Yingjun;
Wang, Gaoxiong

Publication type:

Article

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Huang, Rongfu;
Luo, Qi;
Jiang, Yuying;
Zeng, Shuhong;
Wang, Yuanbai;
Xie, Yingjun

Publication type:

Article

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00568-9

By:

Zhuang, Jianlong;
Zhang, Na;
Fu, Wanyu;
Yao, Jianfeng;
Li, Yanqing;
Zeng, Shuhong;
Wang, Yuanbai;
Xie, Yingjun;
Jiang, Yuying

Publication type:

Article

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0461-1

By:

Zhuang, Jianlong;
Wang, Yuanbai;
Zeng, Shuhong;
Lv, Chunling;
Lin, Yiming;
Jiang, Yuying

Publication type:

Article

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01433-x

By:

Zhuang, Jianlong;
Xie, Meihua;
Yao, Jianfeng;
Fu, Wanyu;
Zeng, Shuhong;
Jiang, Yuying;
Wang, Yuanbai;
Xie, Yingjun;
Wang, Gaoxiong;
Chen, Chunnuan

Publication type:

Article

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.

Published in:

2023

By:

Zhuang, Jianlong;
Xie, Meihua;
Yao, Jianfeng;
Fu, Wanyu;
Zeng, Shuhong;
Jiang, Yuying;
Wang, Yuanbai;
Xie, Yingjun;
Wang, Gaoxiong;
Chen, Chunnuan

Publication type:

Case Study

Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.

Published in:

Archives of Pathology & Laboratory Medicine, 2023, v. 147, n. 2, p. 208, doi. 10.5858/arpa.2021-0510-OA

By:

Jianlong Zhuang;
Chunnuan Chen;
Wanyu Fu;
Yuanbai Wang;
Qianmei Zhuang;
Yulin Lu;
Tiantian Xie;
Ruofan Xu;
Shuhong Zeng;
Yuying Jiang;
Yingjun Xie;
Gaoxiong Wang

Publication type:

Article

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829613

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Chen, Yu'e;
Zeng, Shuhong;
Jiang, Yuying;
Wang, Yuanbai;
Chen, Xinying;
Xie, Yingjun;
Wang, Gaoxiong

Publication type:

Article

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.727233

By:

Zhuang, Jianlong;
Zhang, Na;
Wang, Yuanbai;
Zhang, Hegan;
Zheng, Yu;
Jiang, Yuying;
Xie, Yingjun;
Chen, Dongmei

Publication type:

Article

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.964098

By:

Jianlong Zhuang;
Junyu Wang;
Qi Luo;
Shuhong Zeng;
Yu'e Chen;
Yuying Jiang;
Xinying Chen;
Yuanbai Wang;
Yingjun Xie;
Gaoxiong Wang;
Chunnuan Chen

Publication type:

Article

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.924573

By:

Jianlong Zhuang;
Chunnuan Chen;
Yuanbai Wang;
Shuhong Zeng;
Yu'e Chen;
Yuying Jiang;
Yingjun Xie;
Gaoxiong Wang

Publication type:

Article

First clinical and pedigree study of rare HBB: c.316–90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.

Published in:

Annals of Hematology, 2025, v. 104, n. 1, p. 75, doi. 10.1007/s00277-024-06168-y

By:

Zhuang, Jianlong;
Huang, Nan;
Zheng, Yu;
Zhang, Na;
Chen, Chunnuan

Publication type:

Article

First Report of Filipino β<sup>0</sup>-Thalassemia/β-Thalassemia in a Chinese Family.

Published in:

Hemoglobin, 2024, v. 48, n. 1, p. 34, doi. 10.1080/03630269.2023.2301487

By:

Chen, Meihuan;
Lv, Aixiang;
Zhang, Siwen;
Zheng, Junhao;
Zhang, Min;
Chen, Lingji;
He, Qianqian;
Zhuang, Jianlong;
Lin, Na;
Xu, Liangpu;
Huang, Hailong

Publication type:

Article

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52831-9

By:

Zhuang, Jianlong;
Zhang, Na;
Chen, Yu'e;
Jiang, Yuying;
Chen, Xinying;
Chen, Wenli;
Chen, Chunnuan

Publication type:

Article

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02063-7

By:

Zhang, Na;
Huang, Nan;
Chen, Yu'e;
Chen, Xinying;
Zhuang, Jianlong

Publication type:

Article

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02014-2

By:

Zhuang, Jianlong;
Wang, Junyu;
Huang, Nan;
Zheng, Yu;
Xu, Liangpu

Publication type:

Article

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly.

Published in:

Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2024.1503455

By:

Zhuang, Jianlong;
Wang, Junyu;
Huang, Zhengping;
Chen, Yu'e;
Chen, Chunnuan

Publication type:

Article

PTEN expression in human cumulus cells is associated with embryo development competence.

Published in:

Zygote, 2022, v. 30, n. 5, p. 611, doi. 10.1017/S096719942200003X

By:

Yao, Jianfeng;
Li, Ming;
Lin, Liqing;
Li, Youzhu;
Zhuang, Jianlong;
Huang, Yanfang;
Peng, Weilin;
Lian, Jianfeng;
Huang, Rongfu;
Yang, Xiaoyu

Publication type:

Article

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00955-6

By:

Ge, Yunsheng;
Li, Jia;
Zhuang, Jianlong;
Zhang, Jian;
Huang, Yanru;
Tan, Meihua;
Li, Wei;
Chen, Jiayan;
Zhou, Yulin

Publication type:

Article

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.

Published in:

BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06818-z

By:

Zhuang, Jianlong;
Wei, Qiulan;
Jiang, Yuying;
Zeng, Shuhong;
Lou, Haijuan;
Zhang, Na;
Chen, Chunnuan

Publication type:

Article

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.

Published in:

2020

By:

Lin, Yiming;
Lin, Weihua;
Chen, Yanru;
Lin, Chunmei;
Zheng, Zhenzhu;
Zhuang, Jianlong;
Fu, Qingliu

Publication type:

journal article

Molecular analysis of a large novel deletion causing α<sup>+</sup>-thalassemia.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0797-8

By:

Zhuang, Jianlong;
Tian, Jie;
Wei, Jitao;
Zheng, Yu;
Zhuang, Qianmei;
Wang, Yuanbai;
Xie, Qingyue;
Zeng, Shuhong;
Wang, Geng;
Pan, Yanchao;
Jiang, Yuying

Publication type:

Article

Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11297-3

By:

Zhuang, Jianlong;
Li, Yanqing;
Chen, Yu'e;
Zhang, Hegan;
Liu, Shufen;
Hu, Manman;
Chen, Chunnuan

Publication type:

Article

Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family.

Published in:

Human Mutation, 2023, p. 1, doi. 10.1155/2023/2766625

By:

Zhuang, Jianlong;
Zheng, Yu;
Jiang, Yuying;
Wang, Junyu;
Zeng, Shuhong;
Liu, Nansong

Publication type:

Article

Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death.

Published in:

Birth Defects Research, 2024, v. 116, n. 8, p. 1, doi. 10.1002/bdr2.2396

By:

Huang, Nan;
Zhang, Hegan;
Huang, Zhengping;
Wu, Xiaoxia;
Zhang, Na;
Jiang, Yuying;
Chen, Chunnuan;
Zhuang, Jianlong

Publication type:

Article

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis.

Published in:

Birth Defects Research, 2024, v. 116, n. 5, p. 1, doi. 10.1002/bdr2.2351

By:

Chen, Xinying;
Jiang, Yuying;
Zeng, Shuhong;
Zhuang, Jianlong;
Lin, Na

Publication type:

Article

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2429

By:

Zhuang, Jianlong;
Zhang, Na;
Wang, Junyu;
Jiang, Yuying;
Zhang, Hegan;
Chen, Chunnuan

Publication type:

Article

Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2365

By:

Zhuang, Jianlong;
Jiang, Yuying;
Chen, Yu'e;
Mao, Aiping;
Chen, Junwei;
Chen, Chunnuan

Publication type:

Article

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.

Published in:

2023

By:

Zhuang, Jianlong;
Liu, Shufen;
Wang, Junyu;
Chen, Yu'e;
Zhang, Hegan;
Jiang, Yuying;
Wang, Gaoxiong;
Chen, Chunnuan

Publication type:

Case Study

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121

By:

Zhuang, Jianlong;
Luo, Qi;
Xie, Meihua;
Chen, Yu'e;
Jiang, Yuying;
Zeng, Shuhong;
Wang, Yuanbai;
Xie, Yingjun;
Chen, Chunnuan

Publication type:

Article

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.

Published in:

BMC Pregnancy & Childbirth, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12884-021-03589-9

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Jiang, Yuying;
Luo, Qi;
Zeng, Shuhong;
Lv, Chunling;
Wang, Yuanbai;
Fu, Wanyu

Publication type:

Article

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.

Published in:

2021

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Jiang, Yuying;
Luo, Qi;
Zeng, Shuhong;
Lv, Chunling;
Wang, Yuanbai;
Fu, Wanyu

Publication type:

journal article