Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Zhenqing Luo"'
Autor:
Jihong Guo, Wen-Bin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Yu Zheng, Liu Zhao, Chen Tan, Yongteng Guo, Lan-Lan Meng, Wei Liu, Mei Deng, Xinghan Wu, Yu Peng, Shuju Zhang, Guang-Xiu Lu, Ge Lin, Hua Wang, Yue-Qiu Tan, Yongjia Yang
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100256- (2024)
Summary: In this study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T, p.His638Tyr and c.5750A>G,
Externí odkaz:
https://doaj.org/article/67694e929e9e453aa535bdd7f4b671dc
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. I
Externí odkaz:
https://doaj.org/article/65f479c4428f40cdbe7c0c70426c7039
Autor:
Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background SMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6. Methods Genomic DNA samples
Externí odkaz:
https://doaj.org/article/daa66800ebf74a08a6bb7dd574d9a942
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese famil
Externí odkaz:
https://doaj.org/article/850b897199484412ae41ba8cb226297e
Autor:
Yongjia Yang, Fang Chen, Zhenqing Luo, Yu Zheng, Jiayong Zheng, Yuyan Fu, Weijian Chen, Haiyan Luo
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Y chromosome represents masculinization. The extra Y chromosome of XYY patients usually leads to over-masculinization phenotypes. The occurrence of several DSD cases with XYY in blood is controversial. Is XYY associated with disorder of sex developme
Externí odkaz:
https://doaj.org/article/388fe90872a740a9b9e61a0b3a2bb979
Autor:
Cheng Zhang, Zhenqing Luo
Publikováno v:
Computational Intelligence and Neuroscience. 2023:1-14
Network public opinion represents public social opinion to a certain extent and has an important impact on formulating national policies and judgment. Therefore, China and other countries attach great importance to the study of online public opinion.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c6b12986fe6195f314760afec650d06
https://doi.org/10.1155/2023/5212712
https://doi.org/10.1155/2023/5212712
Autor:
Fang Shen, Yongjia Yang, Yu Zheng, Pengcheng Li, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
Publikováno v:
Genetics in Medicine. 24:1139-1147
The etiology for a considerable proportion of patients with congenital radioulnar synostosis (RUS) remains unclear. This study aimed to investigate the genetic cause of RUS without a known cause.Patients with RUS were investigated. Exome sequencing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f8b664fc1dc24f498013784f9cfbac8
https://doi.org/10.1016/j.gim.2022.01.021
https://doi.org/10.1016/j.gim.2022.01.021
Autor:
Fang, Shen, Yongjia, Yang, Yu, Zheng, Ming, Tu, Liu, Zhao, Zhenqing, Luo, Yuyan, Fu, Yimin, Zhu
Publikováno v:
Frontiers in genetics. 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba9431723ccfe6f40ac9be7434a379c4
https://pubmed.ncbi.nlm.nih.gov/35734427
https://pubmed.ncbi.nlm.nih.gov/35734427
Autor:
Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Background SMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6. Methods Genomic DNA samples were isol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::363440c879d5e39e229bbd83228a09e3
https://pubmed.ncbi.nlm.nih.gov/34953066
https://pubmed.ncbi.nlm.nih.gov/34953066
Autor:
Yu Zheng, Guanghui Zhu, Yaoxi Liu, Weihua Zhao, Yongjia Yang, Zhenqing Luo, Yuyan Fu, Haibo Mei, Zhengmao Hu
Publikováno v:
Human genetics. 141(8)
Up to 84% of patients with congenital pseudarthrosis of the tibia (CPT) present with neurofibromatosis type 1 (NF1) (NF1-CPT). However, the etiology of CPT not fulfilling the NIH diagnostic criteria for NF1 (non-NF1-CPT) is not well understood. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ea4729ef60c8e7725b5d7a134d3827
https://pubmed.ncbi.nlm.nih.gov/35024939
https://pubmed.ncbi.nlm.nih.gov/35024939