Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Yuanbai Wang"'
Autor:
Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Pathogenic PAK1 variants were described to be causative of neurodevelopmental disorder with macrocephaly, seizures, and speech delay. Herein, we present a de novo PAK1 variant combine with a de novo terminal 1q microdeletion in a
Externí odkaz:
https://doaj.org/article/c16396bd143142d8ae04ff444db53b63
Autor:
Jianlong Zhuang, Chunnuan Chen, Rongfu Huang, Qi Luo, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Background Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter. Case Presentation A 30-year-old pregnant
Externí odkaz:
https://doaj.org/article/5871e59a0cc3452bbd8833694698c075
Autor:
Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene. It prima
Externí odkaz:
https://doaj.org/article/29840741a5934e578d055b4607a03bb7
Autor:
Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Yuying Jiang
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Aims There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation betw
Externí odkaz:
https://doaj.org/article/fcdd2cc4f8624f8c985a2c243356cd69
Autor:
Jianlong Zhuang, Junyu Wang, Qi Luo, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Xinying Chen, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures.Case presentation: We herein report a Chine
Externí odkaz:
https://doaj.org/article/e9cae234d29e40c8997e66522f2844e5
Autor:
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Gaoxiong Wang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death. Limited reports indicated that the KC
Externí odkaz:
https://doaj.org/article/0c330bb46e86480ca74b3cedbb67c18f
Autor:
Jianlong Zhuang, Chunnuan Chen, Yuying Jiang, Qi Luo, Shuhong Zeng, Chunling Lv, Yuanbai Wang, Wanyu Fu
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-10 (2021)
Abstract Background An increasing number of techniques have been used for prenatal diagnosis of genetic abnormalities. Our initial objective was to explore the value of the BACs-on-Beads (BoBs) assay for the prenatal diagnosis of aneuploidies and mic
Externí odkaz:
https://doaj.org/article/94e377ee5c0f49bfa6f2bb16c8ac038a
Autor:
Jianlong Zhuang, Chunnuan Chen, Yu'e Chen, Qi Luo, Yuanbai Wang, Yuying Jiang, Shuhong Zeng, Yingjun Xie, Dongmei Chen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundOsteogenesis imperfecta (OI) is a rare heterogeneous disorder typically featured by fragile bones and susceptibility to fracture. The aim of the present study was to explore the genetic etiology of familial recurrent OI and the genotype–p
Externí odkaz:
https://doaj.org/article/412729fb244441e781863fdc3e4b2004
Autor:
Jianlong Zhuang, Chunnuan Chen, Yu’e Chen, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Xinying Chen, Yingjun Xie, Gaoxiong Wang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant syndrome caused by BCOR variants, which manifests only in females and presumed leading to male lethality. Herein, we aim to present a prenatal diagnosis for OFCD syndrome asso
Externí odkaz:
https://doaj.org/article/4c7ac7ca45104a0e9d7cb16cf0907bb7
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of CNVs in chromosome Xp2
Externí odkaz:
https://doaj.org/article/1a85cbec55e447d99b46400353eec9d0