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Akademický článek

Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities

Autor: Yunsheng Ge, Jiayan Chen, Yanru Huang, Di Shao, Wenbo Wang, Meijiao Cai, Meihua Tan, Jian Zhang

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Fetal chromosomal abnormalities are the main cause of adverse pregnancy outcomes and are the focus of invasive prenatal diagnosis. Recent studies have demonstrated that various techniques have distinct advantages. Achieving high-resolution and effect

Externí odkaz: https://doaj.org/article/81aee62e5a1c4754b05a2e0eb128a48f

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Akademický článek

A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy

Autor: Yanru Huang, Libin Mei, Yangdan Wang, Huiming Ye, Xiaomin Ma, Jian Zhang, Meijiao Cai, Ping Li, Yunsheng Ge, Yulin Zhou

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

ObjectiveGlobal developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global de

Externí odkaz: https://doaj.org/article/0077f7668c884639a5f4153518a43d81

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High Density Lipoprotein Based Delivery of Vascular Endothelial Growth Factor Protein for Myocardial Ischemia Therapy

Autor: Meijiao Cai, Wanzhi Huang, Ling Wang

Publikováno v: Journal of Biomaterials and Tissue Engineering. 12:2307-2311

A high density lipoprotein (HDL) based protein delivery system composed of HDL, polyethyleneimine (PEI) and vascular endothelial growth factor (VEGF) protein was constructed (HDL/PEI/VEGF) was fabricated as an advanced system for myocardial ischemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6761c62b9856e3104121073b8a25b5aa
https://doi.org/10.1166/jbt.2022.3166

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[Prenatal diagnosis of a rare case with de novo partial 21q(21q22.1→ qter) trisomy syndrome and absent nasal bone]

Autor: Jiayan, Chen, Nan, Sheng, Meijiao, Cai, Yunsheng, Ge

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(8)

To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques.Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were appli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a6f16cc35587413813fc4fbab3dfe130
https://pubmed.ncbi.nlm.nih.gov/34365625

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[Prenatal genetic diagnosis of a partial 21 trisomy fetus with nasal bone dysplasia]

Autor: Jian, Zhang, Xiaolu, Chen, Yu, Jiang, Wenbo, Wang, Meijiao, Cai, Hui, Kong, Yunsheng, Ge

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(10)

To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect.Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4405731a5e687670acbe789b2676e10a
https://pubmed.ncbi.nlm.nih.gov/32924128

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[Prenatal diagnosis of two fetuses with de novo 46,X,psu dic(Y)/45,X mosaicism]

Autor: Jiayan, Chen, Xiaolu, Chen, Meijiao, Cai, Jian, Zhang, Yunsheng, Ge

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(9)

To carry out prenatal diagnosis for a fetus with increased nuchal translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) suggested reduced sex chromosomes by cytogenetic and molecular techniques.Chromosomal karyotyping, single

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::440705f30f09b1ca022313eb9dad677f
https://pubmed.ncbi.nlm.nih.gov/32820525

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Pedigree analysis of two brothers with severe oligozoospermia caused by maternal inv(X) (p22.3, q22) chromosome abnormality

Autor: Xiaolu Chen, Xiaohui Xu, Meijiao Cai, Yunsheng Ge, Yanwei Sha, Yankun Sha

Publikováno v: Andrologia. 52

Sex chromosome abnormality (SCA) is one of the major causes of male spermatogenesis dysfunction. In our study, we sought to investigate the novel X chromosome inversion leading to severe oligozoospermia. Here, we report two brothers with severe oligo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83cb7a0d7d714514629bcc6b7f95600d
https://doi.org/10.1111/and.13602

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[Prenatal genetic analysis of three fetuses with abnormalities of chromosome 22]

Autor: Yunsheng, Ge, Jian, Zhang, Meijiao, Cai, Xiaolu, Chen, Yulin, Zhou

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(4)

To carry out genetic testing for 3 fetuses with abnormal prenatal screening.Fetal ultrasound, karyotype analysis, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization were performed.Abnormalities of chromosome 22 were fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d3809ef37b697c4a15f5ee43cf44b4eb
https://pubmed.ncbi.nlm.nih.gov/32219823

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[Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes]

Autor: Jian, Zhang, Yu, Jiang, Meijiao, Cai, Yunsheng, Ge, Yulin, Zhou, Wenbo, Wang

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(12)

To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7650aaf6d33f6cd2d56e1c72614ab25c
https://pubmed.ncbi.nlm.nih.gov/31813153

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