Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jinghui Kong"'
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
ObjectiveThis study presents the clinical phenotypes and genetic analysis of seven patients with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing.MethodsThe clinical data of seven children with BFIE diagnosed at the Depar
Externí odkaz:
https://doaj.org/article/76d8da7b286d4276a26b242b5b8ba8ff
Autor:
Xiaona Wang, Jing Tao, Yidan Qiao, Shuying Luo, Zhenqin Zhao, Yinbo Gao, Jisheng Guo, Jinghui Kong, Chongfen Chen, Lili Ge, Bo Zhang, Pengbo Guo, Lei Liu, Yinsen Song
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Autism spectrum disorder (ASD) is an immensely challenging developmental disorder characterized by impaired social interaction, restricted/repetitive behavior, and anxiety. GABAergic dysfunction has been postulated to underlie these autistic symptoms
Externí odkaz:
https://doaj.org/article/505cc5fd686b400b855d0a24f2bfa6a1
Autor:
Pengbo Guo, Jinjin Liu, Lili Ge, Jinghui Kong, Lijun Zheng, Xuhui Chen, Yuqi Huo, Yinsen Song, Shuying Luo, Chongfen Chen
Publikováno v:
Virus Genes. 56:174-181
Genogroup II, genotype 4 noroviruses (GII.4 NoVs) are a leading cause of epidemic and sporadic acute non-bacterial gastroenteritis worldwide. In this study, we isolated a GII.4 NoV strain (designated 2015HN08) from a kid presenting with acute gastroe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9252712b371b7d391ca0f9140f9aedd3
https://doi.org/10.1007/s11262-019-01729-0
https://doi.org/10.1007/s11262-019-01729-0
Autor:
Jing Liu, Baiyun Chen, Yuchun Liu, Jinghui Kong, Bo Zhang, Liang Han, Daoqi Mei, Cai Yun Ma, Qing Shang, Zhenhua Xie, Mengjun Xiao, Shiyue Mei, Yaodong Zhang, Chao Gao, Dongxiao Li
Publikováno v:
European journal of medical genetics. 65(9)
Recessive mutations in glutamate pyruvate transaminase 2 (GPT2) have recently been found to be associated with intellectual and developmental disability (IDD). In this study, we discovered a homozygous missense variant, NM_133443: [c.1172C T, p. Pro3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e38846643309ab9fa735866a764aed4
https://pubmed.ncbi.nlm.nih.gov/35793769
https://pubmed.ncbi.nlm.nih.gov/35793769
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(9)
To detect variants of NF1 gene among thirteen patients with neurofibromatosis type 1.Genomic DNA was extracted from peripheral blood samples of the patients. High-throughput sequencing was employed to detect potential variants of the NF1 and NF2 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a55a1b5fb2090c7f5bcaeab6429cda40
https://pubmed.ncbi.nlm.nih.gov/34487523
https://pubmed.ncbi.nlm.nih.gov/34487523
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(7)
To delineate the nature and origin of chromosomal aberration in a girl with mental retardation.Genomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd3f1a6df16f271aa499771149bc0512
https://pubmed.ncbi.nlm.nih.gov/32619265
https://pubmed.ncbi.nlm.nih.gov/32619265
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(5)
To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was als
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04ea9aed4b3556e11b39d128088f9599
https://pubmed.ncbi.nlm.nih.gov/32335879
https://pubmed.ncbi.nlm.nih.gov/32335879
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(4)
To explore the clinical characteristics and genetic variants in a child with tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay.Clinical feature of the patient was summarized. Genomic DNA was extracted from peripheral blood sample
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e6050dd536d42c052fdf0b7774bde39
https://pubmed.ncbi.nlm.nih.gov/32219836
https://pubmed.ncbi.nlm.nih.gov/32219836
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(2)
To explore the genetic basis for a child featuring delayed language development.The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP array) analysis.The karyotype of the child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2432c9a7e7c487904f262fca7c307943
https://pubmed.ncbi.nlm.nih.gov/32034749
https://pubmed.ncbi.nlm.nih.gov/32034749
Autor:
Pengbo Guo, Yinsen Song, Chongfen Chen, Shuying Luo, Lei Liu, Yidan Qiao, Zhenqin Zhao, Lili Ge, Jisheng Guo, Jinghui Kong, Yinbo Gao, Xiaona Wang, Bo Zhang, Jing Tao
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Frontiers in Neurology
Frontiers in Neurology
Autism spectrum disorder (ASD) is an immensely challenging developmental disorder characterized by impaired social interaction, restricted/repetitive behavior, and anxiety. GABAergic dysfunction has been postulated to underlie these autistic symptoms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3043892c878aabe6803917dc73ef3795
https://www.frontiersin.org/article/10.3389/fneur.2018.01052/full
https://www.frontiersin.org/article/10.3389/fneur.2018.01052/full