Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Jialun Pang"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research on monogenic diseases
Externí odkaz:
https://doaj.org/article/2eb6b9f91dee4dfda25ac9f41de48da1
Autor:
Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeun
Externí odkaz:
https://doaj.org/article/951c0684a6964c4d8aba263af7773efe
Autor:
Na Ma, Zhenhua Zhu, Jiancheng Hu, Jialun Pang, Shuting Yang, Jing Liu, Jing Chen, Wanglan Tang, Haiyan Kuang, Rong Hu, Zhuo Li, Hua Wang, Ying Peng, Hui Xi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results sugg
Externí odkaz:
https://doaj.org/article/80d17c4fc23245f89809b24653316e05
Autor:
Qin Liu, Qianting Chen, Zonglei Zhang, Shiyi Peng, Jing Liu, Jialun Pang, Zhengjun Jia, Hui Xi, Jiaqi Li, Libao Chen, Yinyin Liu, Ying Peng
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Routine PCR, Sanger sequencing, and specially designed GAP-PCR are often used in the genetic analysis of thalassemia, but all these methods have limitations. In this study, we evaluated a new third-generation sequencing-based approach termed comprehe
Externí odkaz:
https://doaj.org/article/bbb30a5c3053464ca7973cea1dede7b9
Autor:
Na Ma, Hui Xi, Jing Chen, Ying Peng, Zhengjun Jia, Shuting Yang, Jiancheng Hu, Jialun Pang, Yanan Zhang, Rong Hu, Hua Wang, Jing Liu
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-
Externí odkaz:
https://doaj.org/article/f7513feedbf24d79bb26c2e31e9139e2
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause
Externí odkaz:
https://doaj.org/article/56ae58fa118c40e2af945138797f552d
Autor:
Si He, Hui Xi, Jing Chen, Dan Wang, Jialun Pang, Jiancheng Hu, Qin Liu, Zhengjun Jia, Hua Wang
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
Abstract Background Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array), fluoresc
Externí odkaz:
https://doaj.org/article/a017498176c449478d3da7b69f03ba24
Autor:
Ying Peng, Shuting Yang, Xiaoliang Huang, Jialun Pang, Jing Liu, Jiancheng Hu, Xinzhao Shen, Chengyuan Tang, Hua Wang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Skeletal dysplasias (SDs) are a heterogeneous group of genetic disorders that primarily affect bone and cartilage. This study aims to identify the genetic causes for fetal SDs, and evaluates the diagnostic yield of prenatal whole-exome se
Externí odkaz:
https://doaj.org/article/ca38a84617204eaa9367f0ed84621694
Autor:
Jing Liu, Qin Liu, Shuting Yang, Na Ma, Jialun Pang, Ying Peng, Hui Xi, Zhengjun Jia, Yingchun Luo, Meiping Jiang, Yanling Teng, Wenxian Yu, Zhuo Li, Hua Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background Simpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X‐linked recessive disorder characterized by pre‐ and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal,
Externí odkaz:
https://doaj.org/article/0c5b3bac7e8c4017a9f0ec933194da7e
Autor:
Ying Peng, Changbiao Liang, Hui Xi, Shuting Yang, Jiancheng Hu, Jialun Pang, Jing Liu, Yingchun Luo, Chengyuan Tang, Wanqin Xie, Hua Wang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from un
Externí odkaz:
https://doaj.org/article/8642b17500cc4d68a703d6ea6c3d9691