Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Hongke, Ding"'
Autor:
Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu, Li Du, Jian Lu, Jing Wu, Yukun Zeng, Mingqin Mai, Juan Zhu, Lihua Yu, Wei He, Fangfang Guo, Haishan Peng, Cuize Yao, Yiming Qi, Yuan Liu, Fake Li, Jiexia Yang, Rong Hu, Jie Liang, Jicheng Wang, Wei Wang, Yan Zhang, Aihua Yin
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-9 (2024)
Abstract Background Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinica
Externí odkaz:
https://doaj.org/article/433d3f2043ea4df4a876a0f806b3fcd1
Autor:
Hongke Ding, Chenyang Wang, Yibiao Cai, Kai Yu, Haibo Zhao, Faxiang Wang, Xinyao Shi, Jiajia Cheng, Han Sun, Yongzhen Wu, Ran Qin, Cheng Liu, Chunhua Zhao, Xiaohui Sun, Fa Cui
Publikováno v:
BMC Plant Biology, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Spike length (SL) is one of the most important agronomic traits affecting yield potential and stability in wheat. In this study, a major stable quantitative trait locus (QTL) for SL, i.e., qSl-2B, was detected in multiple environments in a r
Externí odkaz:
https://doaj.org/article/5bb818958e46437ab16ce67a5910b137
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background A multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs) characterized by a wide range of clinical characteristics. Benefiting from CNV calling from WES data,
Externí odkaz:
https://doaj.org/article/8ad9deae7ba04569ae1de388228acbc1
Publikováno v:
Annals of Medicine, Vol 55, Iss 1 (2023)
AbstractObjectives To evaluate the clinical utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in foetuses with oligohydramnios.Methods In this retrospective study, 126 fetuses with oligohydramnios at our centre from 20
Externí odkaz:
https://doaj.org/article/384b8e71b2074f77b176cac1a45d6896
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objective: To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50 mm.Methods: A r
Externí odkaz:
https://doaj.org/article/80968f83685249ca8157ea64b60bae93
Autor:
Yanlin Huang, Chang Liu, Hongke Ding, Yunan Wang, Lihua Yu, Fangfang Guo, Fake Li, Xiaomei Shi, Yan Zhang, Aihua Yin
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify the genetic causes for fetal short long bones, and r
Externí odkaz:
https://doaj.org/article/2b144bfe35224351b88937d2833363c2
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-generation seque
Externí odkaz:
https://doaj.org/article/448de3df1d364a50992c1240352205c8
Autor:
Chen Li, Xingwang Wang, Fake Li, Hongke Ding, Ling Liu, Ying Xiong, Chaoxiang Yang, Yan Zhang, Jing Wu, Aihua Yin
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology. Therefore, it is difficult to
Externí odkaz:
https://doaj.org/article/fbdc34e20395483a8f13db3ecd0350dd
Autor:
Lihua Yu, Chaoxiang Yang, Ning Shang, Hongke Ding, Juan Zhu, Yuanyuan Zhu, Haowen Tan, Yan Zhang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
A dilated lateral ventricle is a relatively common finding on prenatal ultrasound, and the causes are complex. We aimed to explore the etiology of a fetus with a dilated lateral ventricle. Trio whole-exome sequencing was performed to detect causative
Externí odkaz:
https://doaj.org/article/530a61295a6b47328de7921e72c6e071
Publikováno v:
Annals of Medicine, Vol 53, Iss 1, Pp 1286-1292 (2021)
AbstractObjectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of ompha
Externí odkaz:
https://doaj.org/article/a1c8947aa4a741639387eadee8b89fb2