Search Results - "Xia, Junke"

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants by Xia, Junke, Luo, Xiao, Zhang, Xinyuan, Kong, Xiangdong

“…Primary amenorrhea as the common symptom has a complicated etiology, and genetic disorders are non‐negligible. Kallmann syndrome (KS) is a rare inherited…”
Get full text

SPF rabbits infected with rabbit hepatitis E virus isolate experimentally showing the chronicity of hepatitis by Han, Jian, Lei, Yaxin, Liu, Lin, Liu, Peng, Xia, Junke, Zhang, Yulin, Zeng, Hang, Wang, Lin, Wang, Ling, Zhuang, Hui

“…This study focused on investigating the pathogenesis seen in specific-pathogen-free (SPF) rabbits following infection with a homologous rabbit HEV isolate…”
Get full text

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing by Xia, Junke, Jiao, Zhihui, Zhao, Zhenhua, Wu, Jing, Kong, Xiangdong

Get full text

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency by Xia, Yanjie, Shi, Panlai, Xia, Junke, Zhang, Huijuan, Xu, Lijun, Kong, Xiangdong

“…•The clinical characteristics of partial 17OHD are different from those of complete 17OHD.•Three novel missense mutations of CYP17A1 gene were identified from…”
Get full text

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population by Xia, Junke, Liu, Furong, Wu, Jing, Xia, Yanjie, Zhao, Zhenhua, Zhao, Yongjiang, Ren, Huayan, Kong, Xiangdong

“…17 α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can be attributed to cytochrome P450 17 α-hydroxylase deficiency…”
Get more information

Swine and rabbits are the main reservoirs of hepatitis E virus in China: detection of HEV RNA in feces of farmed and wild animals by Xia, Junke, Zeng, Hang, Liu, Lin, Zhang, Yulin, Liu, Peng, Geng, Jiabao, Wang, Lin, Wang, Ling, Zhuang, Hui

“…Hepatitis E virus (HEV) infection is recognized as a zoonosis. The prevalence of HEV RNA and anti-HEV antibodies in many animal species has been reported, but…”
Get full text

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development by Xia, Junke, Wu, Jing, Chen, Chen, Zhao, Zhenhua, Xie, Yanchuan, Bai, Zhouxian, Kong, Xiangdong

“…The rare condition 46, XY disorders of sex development (DSDs) is characterized by the female phenotype and male karyotype. We aimed to describe the genetic…”
Get full text

Hepatitis E vaccine immunization for rabbits to prevent animal HEV infection and zoonotic transmission by Zhang, Yulin, Zeng, Hang, Liu, Peng, Liu, Lin, Xia, Junke, Wang, Lin, Zou, Qinghua, Wang, Ling, Zhuang, Hui

“…Highlights • Explore cost-effective vaccination strategy for animal hosts of HEV. • Two 10 or 20 μg of HEV 239 can protect rabbits against rabbit/swine HEV…”
Get full text

Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria by Chai, Yuqiong, Ning, Haofeng, Xia, Junke, Wang, Ya'nan, Kong, Xiangdong

“…To explore the characteristics of phenylalanine hydroxylase (PAH) gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria…”
Get more information

Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review by Xia, Junke, Zhang, Xinyuan, Liu, Hui, Kong, Xiangdong

“…To explore the clinical and genetic characteristics of a neonate with Microvillus inclusion disease (MVID). A neonate with MVID admitted to the First…”
Get more information

Mix-breeding with HEV-infected swine induced inapparent HEV infection in SPF rabbits by Liu, Lin, Wang, Lin, Xia, Junke, Zhang, Yulin, Zeng, Hang, Liu, Peng, Zou, Qinghua, Wang, Ling, Zhuang, Hui

“…Studies have shown that swine HEV (sHEV) and rabbit HEV (rHEV) can experimentally infect rabbits and swine, respectively. However, no published data have…”
Get full text

Hepatitis E virus infection in farmed rabbits and swine in the Eastern Chinese city Lianyungang: Showing no potential interspecies transmission by Han, Jian, Zeng, Hang, Wang, Ling, Liu, Peng, Liu, Lin, Xia, Junke, Zhang, Yulin, Wang, Lin, Zhuang, Hui

“…Rabbit HEV isolated recently from farmed rabbits in China has been shown experimentally to be able to infect both cynomolgus macaques and pigs. The purpose of…”
Get full text

Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development by Xia, Junke, Hou, Yaqin, Dai, Peng, Zhao, Zhenhua, Chen, Chen, Kong, Xiangdong

“…To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). Five children with DSD…”
Get more information

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants by Xia, Junke, Luo, Xiao, Zhang, Xinyuan, Kong, Xiangdong

Get full text