Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Chien Hsing Lin"'
Autor:
Yiming Lin, Chien-Hsing Lin, Xiaoshan Yin, Lin Zhu, Jianbin Yang, Yuyan Shen, Chiju Yang, Xigui Chen, Haili Hu, Qingqing Ma, Xueqin Shi, Yaping Shen, Zhenzhen Hu, Chenggang Huang, Xinwen Huang
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and
Externí odkaz:
https://doaj.org/article/50ffbe9e67664538a6def7872c75ce59
Autor:
Chiju Yang, Qingqing Ma, Yaru Liu, Xigui Chen, Jianbin Yang, Shen Yaping, Xueqin Shi, Haili Hu, Yuyan Shen, Xinwen Huang, Kaixing Le, Lin Zhu, Chenggang Huang, Zhenzhen Hu, Yiming Lin, Chien-Hsing Lin
Publikováno v:
Journal of Inherited Metabolic Disease. 43:467-477
To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) program. We designed a high-throughput iPLEX genotyping assay to detec
Autor:
Chien-Hsing Lin, Shen Yaping, Xiaoshan Yin, Haili Hu, Jianbin Yang, Xinwen Huang, Qingqing Ma, Hu Zhenzhen, Xigui Chen, Yiming Lin, Chenggang Huang, Lin Zhu, Chiju Yang, Xueqin Shi, Yuyan Shen
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics, Vol 10 (2019)
Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and
Autor:
Kuo Hung Huang, Chew Wun Wu, Su Shun Lo, Yi Ming Shyr, Wen Liang Fang, Anna Fen Yau Li, Ming Huang Chen, Shih Ching Chang, Yee Chao, Chien Hsing Lin
Publikováno v:
Clinical Epigenetics
Background Aberrant DNA methylation is involved in gastric carcinogenesis and may serve as a useful biomarker in the diagnosis and detection of gastric cancer (GC) recurrence. Results A total of 157 patients who received surgery for GC were enrolled
Autor:
J.-K. Lin, Wen Yih Liang, Yuan-Tzu Lan, Hung-Hsin Lin, M.-H. Chen, Pei Ching Lin, Chien-Hsing Lin, Shin Ching Chang, Jeng-Kai Jiang, Wei-Shone Chen, Sheng Hsiang Yang, Chun Chi Lin
Publikováno v:
Annals of Oncology. 29:viii178
Autor:
Yuan-Tzu Lan, Sheng Hsiang Yang, Chun Chi Lin, Jeng-Kai Jiang, Shin-Ching Chang, J.-K. Lin, Pei Ching Lin, Wei-Shone Chen, Chien-Hsing Lin
Publikováno v:
Annals of Oncology. 29:viii179
Autor:
Wen-Yiah Liang, Ming Huang Chen, Yuan-Tzu Lan, Chun Chi Lin, Jen-Kou Lin, Jeng-Kai Jiang, Shung Haur Yang, Wei-Shone Chen, Shih-Ching Chang, Chien-Hsing Lin
Publikováno v:
Journal of Clinical Oncology. 36:e15591-e15591
e15591Background: Elevated microsatellite alterations at selected tetranucleotide repeats (EMAST) is another form of microsatellite instability (MSI) at tetranucleotide repeats and has emerged as a...
Publikováno v:
Genomics. 94(4):241-246
Copy number variation (CNV) is a form of DNA sequence variation in the human genome. CNVs can affect expression of nearby and distant genes, and some of them might cause certain phenotypic differences. CNVs vary slightly in location and frequency amo
Autor:
Dau-Ming Niu, Hsiang-Yu Lin, Cheng-Fang Li, Sheng-Hung Lee, Shih-Feng Tsai, Chien-Hsing Lin, Hao-Chuan Liu
Publikováno v:
Molecular genetics and metabolism. 111(4)
Background In view of the therapeutic benefits resulting from early intervention for Fabry disease, our team has implemented an enzyme-based newborn screening in Taiwan since 2008. However, we found that most heterozygous females cannot be detected.
Autor:
Chien-Hsing Lin, Shung Haur Yang, Chih-Hung Jen, Chi Hung Lin, Chien-Yi Tung, Ruey-Hwa Lu, Chih-Yung Yang, Jeng-Kai Jiang, Jen-Kou Lin
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100060 (2014)
PLoS ONE
PLoS ONE
Given the significant racial and ethnic diversity in genetic variation, we are intrigued to find out whether the single nucleotide polymorphisms (SNPs) identified in genome-wide association studies of colorectal cancer (CRC) susceptibility in East As