Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Yongchen Yang"'
Autor:
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Simei Wang, Man Xiao, Yongchen Yang, Hong Zhang, Shengnan Wu
Publikováno v:
Heliyon, Vol 10, Iss 4, Pp e26743- (2024)
Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants
Externí odkaz:
https://doaj.org/article/4f9b7bec3246402fa31bcd953e0ae070
Publikováno v:
PeerJ, Vol 9, p e12354 (2021)
Turner syndrome (TS) affects 1/2,500 live-born female infants. In the present study, we attempted to clarify the relationship between genetic factors (especially the X-chromosome origin), clinical features, body/sexual development, and treatment outc
Externí odkaz:
https://doaj.org/article/e9baff9be2024292997cfc6ca69827d0
Autor:
Di Yin, Yongchen Yang, Huating Zhang, Xuefang Wang, Kunyu Guan, Hong Zhang, Xiaohui Gong, Shengnan Wu, Yong Hu
Objective: This study aims to explore whether there was a correlation between unexplained severe neonatal hyperbilirubinemia and the following six gene pathogenic variants: c.211G>A of UGT1A1 gene, c.388A>G, c.597C>T, c.521T>C of SLCO1B1 gene, c.175T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df03cadb49128f62ca8b782ac5eac677
https://doi.org/10.21203/rs.3.rs-1621096/v1
https://doi.org/10.21203/rs.3.rs-1621096/v1
Autor:
Xiaojun Tang, Wuhen Xu, Xiaozhen Song, Haiyun Ye, Xiang Ren, Yongchen Yang, Hong Zhang, Shengnan Wu, Xiaoping Lan
Publikováno v:
Genesgenomics. 44(6)
Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardiomyo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e6d36c229d4bec2e08fb366a2f53f5
https://pubmed.ncbi.nlm.nih.gov/35482246
https://pubmed.ncbi.nlm.nih.gov/35482246
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(3)
To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis.Variants were identified using next-generation sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d639e32780e5748a076a19fd5930ed16
https://pubmed.ncbi.nlm.nih.gov/30835348
https://pubmed.ncbi.nlm.nih.gov/30835348
Autor:
Kangping Xu, Wuhen Xu, Hong Zhang, Yongchen Yang, Dongkai Wei, Zaiwei Zhou, Jia Jia, Chaoran Xia
Publikováno v:
Molecular Medicine Reports.
The aim of the present study was to describe a multiplex ligation‑dependent probe amplification (MLPA)‑based next‑generation sequencing (NGS) assay that exhibited a significantly higher efficiency in detecting copy number variations (CNVs) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d43cbd4350593bc5523bc74a1875bf
https://doi.org/10.3892/mmr.2018.9581
https://doi.org/10.3892/mmr.2018.9581
Autor:
Jing Yang1, Yongchen Yang2, Yi Huang1, Yan Hu3, Xi Chen1, Hengjuan Sun1, Zhibao Lv2, Qian Cheng3 chqq5@126.com, Liming Bao1,2,4 Liming.Bao@cchmc.org
Publikováno v:
BMC Medical Genetics. 2013, Vol. 14 Issue 1, p1-8. 8p. 2 Color Photographs, 2 Diagrams, 1 Chart.
Publikováno v:
European Journal of Haematology. 84:506-512
The methylenetetrahydrofolate reductase (MTHFR) encodes a major enzyme in folate metabolism. It has been suggested that two MTHFR polymorphisms, 677C>T and 1298A>C, influence risk of acute lymphoblastic leukemia (ALL). Most studies on relation of MTH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b3be87820847b28e4bc603fa24ddc60
https://doi.org/10.1111/j.1600-0609.2010.01430.x
https://doi.org/10.1111/j.1600-0609.2010.01430.x
Autor:
Yi Huang, Xi Chen, Liming Bao, Ling Lu, Hengjuan Sun, Lan Yuan, Yongchen Yang, Xingjuan Wang, Lin Zou
Publikováno v:
Annals of hematology. 94(11)
T cell acute lymphoblastic leukemia (T-ALL) is an aggressive neoplasm for which there are currently no adequate biomarkers for developing risk-adapted therapeutic regimens to improve the treatment outcome. In this prospective study of 83 Chinese pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bc85c5d9035e0ba82b4f30eea34528
https://pubmed.ncbi.nlm.nih.gov/26341754
https://pubmed.ncbi.nlm.nih.gov/26341754
Publikováno v:
Lecture Notes in Electrical Engineering ISBN: 9789400768178
Metallic plume is an important phenomenon during high power disk laser deep-penetration welding, which can reflect the welding quality. To study this laser-induced plume characteristics and its relation to welding quality, an extraviolet and visible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6f20140438e7d0339bda2bd556d8713
https://doi.org/10.1007/978-94-007-6818-5_17
https://doi.org/10.1007/978-94-007-6818-5_17