Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Zhangqian Zheng"'
Autor:
Zhuo Chang, Wei Lu, Zhuhui Zhao, Li Xi, Xiaojing Li, Rong Ye, Jinwen Ni, Zhou Pei, Miaoying Zhang, Ruoqian Cheng, Zhangqian Zheng, Chengjun Sun, Jing Wu, Feihong Luo
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China
Externí odkaz:
https://doaj.org/article/4a16a44451494286a10efbdc7806f2c2
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102693- (2022)
Type 1 early infantile epileptic encephalopathy (EIEE1) is a rare X-link neurodevelopmental disorder caused by mutations in the ARX gene. The mechanism remains unclear due to the lack of cellular models for the disease. We previously have generated a
Externí odkaz:
https://doaj.org/article/b0f1347b5e714b3193b4bc3fd289a1c6
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101907- (2020)
Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced plurip
Externí odkaz:
https://doaj.org/article/79964938aa6941e285e426a066127f5b
Autor:
Miaoying Zhang, Zhangqian Zheng, Li Xi, Rong Ye, Jinwen Ni, Jing Wu, Zhuo Chang, Zhuhui Zhao, Xiaojing Li, Zhou Pei, Wei Lu, Chengjun Sun, Feihong Luo, Ruoqian Cheng
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China and expl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5534b67343ebf798071afd8aab52b55
https://doaj.org/article/4a16a44451494286a10efbdc7806f2c2
https://doaj.org/article/4a16a44451494286a10efbdc7806f2c2
Autor:
Chengjun Sun, Ruoqian Cheng, Chenbin Dong, Feihong Luo, Wei Lu, Miaoying Zhang, Zhangqian Zheng, Renchao Liu, Bingbing Wu, Zhou Pei
Publikováno v:
Transl Pediatr
Background Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic errors. This study aimed to analyze the relationship between the epigenetic errors and phenotypes of BWS and to evaluate the efficacy of diagnosing BWS using patients' cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d2f52bb4b937b5c9baf6859276de72
https://doi.org/10.21037/tp-20-243
https://doi.org/10.21037/tp-20-243
Autor:
Khalid Hussain, Shuhua Ren, Li Xi, Zhangqian Zheng, Miaoying Zhang, Yihui Guan, Jingjie Ge, Jinwen Ni, Ruoqian Cheng, Feihong Luo
Publikováno v:
European Journal of Pediatrics
Congenital hyperinsulinism (CHI) is a clinically, genetically, and morphologically heterogeneous disorder. 18F DOPA-PET CT scanning greatly improves its clinical outcome. Here, we presented the first Chinese 18F DOPA-PET CT scanning–based CHI cohor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4358368c495965d23408662fbf011337
https://doi.org/10.1007/s00431-019-03408-6
https://doi.org/10.1007/s00431-019-03408-6
Publikováno v:
World Journal of Pediatrics. 15:405-411
The limited available studies have unveiled different natural histories and prognosis associated with pediatric type 2 diabetes (T2D) and adult T2D. To date, data on the clinical features, metabolic profiles and beta-cell function characteristics are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8cc42186fedaa8f58859eaf9b76de2
https://doi.org/10.1007/s12519-019-00243-5
https://doi.org/10.1007/s12519-019-00243-5
Publikováno v:
Ann Transl Med
Background This study aimed to explore the relationship between the phenotype and genotype of congenital hypothyroidism (CH) caused by dual oxidase 2 (DUOX2) mutation in Chinese children, and to investigate the genetic causes of permanent and transie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81d53738803ef5e1568f86ceb1cc9c32
https://pubmed.ncbi.nlm.nih.gov/33490161
https://pubmed.ncbi.nlm.nih.gov/33490161
Autor:
Feihong Luo, Rong Ye, Miaoying Zhang, Chunfang Wang, Xiaojing Li, Shuixian Shen, Xiaodong Wang, Wei Wang, Dijing Zhi, Chengjun Sun, Zhangqian Zheng, Ruoqian Cheng, Zhuhui Zhao, Xuefan Gu, Zhong Lu, Li Xi, Jun Ye, Pin Li
Publikováno v:
Acta Diabetologica. 51:947-953
The aim of this study was to investigate incidence trend of childhood type 1 diabetes in Shanghai, a megalopolis in east China. We established a population-based retrospective registry for the disease in the city's registered population during 1997-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee98d12e766dff0b067f57529d49686b
https://doi.org/10.1007/s00592-014-0590-2
https://doi.org/10.1007/s00592-014-0590-2
Autor:
Zhangqian, Zheng, Lingfeng, Cao, Zhou, Pei, Dijing, Zhi, Zhuhui, Zhao, Li, Xi, Ruoqian, Cheng, Feihong, Luo
Publikováno v:
International journal of clinical and experimental medicine. 8(5)
The aim of this study is to investigate the frequency distribution of exon 3 deleted (d3-GHR) genetic polymorphism of growth hormone receptor (GHR) in growth hormone deficient (GHD) Chinese children and to explore the correlation between the growth p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81179b9d8c4422535a47feeb922852d3
https://pubmed.ncbi.nlm.nih.gov/26221355
https://pubmed.ncbi.nlm.nih.gov/26221355