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104 results for Liang,+Desheng

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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
Author / Creator:Liang, Desheng ; Cram, David S. ; Tan, Hu ; Linpeng, Siyuan ; Liu, Yingdi ; Sun, Huaiyu ; Zhang, Yu ; Tian, Feng ; Zhu, Hongmin ; Xu, Mengnan ; Wang, Hua ; Yu, Fuli ; Wu, Lingqian
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.1998-2006
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Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4
Author / Creator:Lei, Ming ; Liang, Desheng ; Yang, Yifeng ; Mitsuhashi, Satomi ; Katoh, Kazutaka ; Miyake, Noriko ; Frith, Martin C. ; Wu, Lingqian ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-08, Vol.65 (8), p.667-674
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XRCC2 mutation causes meiotic arrest, azoospermia and infertility
Author / Creator:Yang, Yongjia ; Guo, Jihong ; Dai, Lei ; Zhu, Yimin ; Hu, Hao ; Tan, Lihong ; Chen, Weijian ; Liang, Desheng ; He, Jingliang ; Tu, Ming ; Wang, Kewei ; Wu, Lingqian
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2018-09, Vol.55 (9), p.628-636
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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15
Author / Creator:Pan, Jianyan ; Teng, Hua ; Liu, Fang ; Chen, Siyi ; Liu, Yaning ; Teng, Yanling ; Liang, Desheng ; Li, Zhuo ; Wu, Lingqian
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-01, Vol.15 (1), p.1981-11, Article 1981
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Aberrant expression of KDM1A inhibits ferroptosis of lung cancer cells through up-regulating c-Myc
Author / Creator:Lu, Can ; Cai, Yuan ; Liu, Wei ; Peng, Bi ; Liang, Qiuju ; Yan, Yuanliang ; Liang, Desheng ; Xu, Zhijie
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-11, Vol.12 (1), p.19168-19168, Article 19168
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Assisted reproductive technology and risk of congenital malformations: a meta-analysis based on cohort studies
Author / Creator:Qin, Jiabi ; Sheng, Xiaoqi ; Wang, Hua ; Liang, Desheng ; Tan, Hongzhuan ; Xia, Jiahui
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Archives of gynecology and obstetrics, 2015-10, Vol.292 (4), p.777-798
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Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome
Author / Creator:Lei, Ming ; Mitsuhashi, Satomi ; Miyake, Noriko ; Ohta, Tohru ; Liang, Desheng ; Wu, Lingqian ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-07, Vol.64 (7), p.647-652
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Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)
Author / Creator:Lv, Weigang ; Wei, Xianda ; Guo, Ruolan ; Liu, Qin ; Zheng, Yu ; Chang, Jiazhen ; Bai, Ting ; Li, Haoxian ; Zhang, Jianguang ; Song, Zhuo ; Cram, David S ; Liang, Desheng ; Wu, Lingqian
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2015-01, Vol.61 (1), p.172-181
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PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation
Author / Creator:Chen, Siyi ; You, Jiali ; Zhou, Xiaowei ; Li, Yan ; Liu, Fang ; Teng, Yanling ; Teng, Hua ; Li, Yunlong ; Liang, Desheng ; Li, Zhuo ; Wu, Lingqian
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2024-11, Vol.15 (11), p.808-11, Article 808
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Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals
Author / Creator:Huang, Qinlin ; Wen, Juan ; Zhang, Hongyun ; Teng, Yanling ; Zhang, Wen ; Zhu, Huimin ; Liang, Desheng ; Wu, Lingqian ; Li, Zhuo
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-10, Vol.18 (1), p.111-12, Article 111
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Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis
Author / Creator:Chen, Xin ; Yin, Wu ; Chen, Siyi ; Zhang, Wenyu ; Li, Hongyan ; Kuang, Hanzhe ; Zhou, Miaojin ; Teng, Yanling ; Zhang, Junlong ; Shen, Guodong ; Liang, Desheng ; Li, Zhuo ; Hu, Bing ; Wu, Lingqian
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-05, Vol.140 (5), p.791-803
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Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Author / Creator:He, Ruxuan ; Mo, Ruo ; Shen, Ming ; Kang, Lulu ; Song, Jinqing ; Liu, Yi ; Chen, Zhehui ; Zhang, Hongwu ; Yao, Hongxin ; Liu, Yupeng ; Zhang, Yao ; Dong, Hui ; Jin, Ying ; Li, Mengqiu ; Qin, Jiong ; Zheng, Hong ; Chen, Yongxing ; Li, Dongxiao ; Wei, Haiyan ; Li, Xiyuan ; Zhang, Huifeng ; Huang, Min ; Zhang, Chunyan ; Jiang, Yuwu ; Liang, Desheng ; Tian, Yaping ; Yang, Yanling
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.200-200, Article 200
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Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Author / Creator:Liu, Yi ; Chen, Zhehui ; Dong, Hui ; Ding, Yuan ; He, Ruxuan ; Kang, Lulu ; Li, Dongxiao ; Shen, Ming ; Jin, Ying ; Zhang, Yao ; Song, Jinqing ; Tian, Yaping ; Cao, Yongtong ; Liang, Desheng ; Yang, Yanling
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.135-135, Article 135
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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
Author / Creator:Guo, Ruolan ; Zhu, Guosheng ; Zhu, Huimin ; Ma, Ruiyu ; Peng, Ying ; Liang, Desheng ; Wu, Lingqian
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-08, Vol.60 (8), p.435-442
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Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
Author / Creator:Luo, Xiaomei ; Zou, Yongyi ; Tan, Bo ; Zhang, Yue ; Guo, Jing ; Zeng, Lanlan ; Zhang, Rui ; Tan, Hu ; Wei, Xianda ; Hu, Yiqiao ; Zheng, Yu ; Liang, Desheng ; Wu, Lingqian
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-04, Vol.62 (4), p.513-516
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Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2 affects stress granule assembly via TIA‐1
Author / Creator:Peng, Guangnan ; Gu, Ao ; Niu, Hongyan ; Chen, Linlin ; Chen, Yan ; Zhou, Miaojin ; Zhang, Yiti ; Liu, Jie ; Cai, Licong ; Liang, Desheng ; Liu, Xionghao ; Liu, Mujun
Publisher:England: John Wiley & Sons, Inc
Journal title:CNS neuroscience & therapeutics, 2022-01, Vol.28 (1), p.105-115
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Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review
Author / Creator:Tan, Hu ; Chen, Xin ; Lv, Weigang ; Linpeng, Siyuan ; Liang, Desheng ; Wu, Lingqian
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-07, Vol.63 (7), p.851-855
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Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy
Author / Creator:Zhang, Chunhua ; Li, Zhuo ; Chen, Miaomiao ; Hu, Zhiqing ; Wu, Lingqian ; Zhou, Miaojin ; Liang, Desheng
Publisher:Basel: MDPI AG
Journal title:Biosensors (Basel), 2021-05, Vol.11 (5), p.154
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CRISPR/Cas12a-Based Ultrasensitive and Rapid Detection of JAK2 V617F Somatic Mutation in Myeloproliferative Neoplasms
Author / Creator:Chen, Miaomiao ; Zhang, Chunhua ; Hu, Zhiqing ; Li, Zhuo ; Li, Menglin ; Wu, Lingqian ; Zhou, Miaojin ; Liang, Desheng
Publisher:Switzerland: MDPI AG
Journal title:Biosensors (Basel), 2021-07, Vol.11 (8), p.247
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Targeted B-domain deletion restores F8 function in human endothelial cells and mice
Author / Creator:Hu, Zhiqing ; Li, Zhuo ; Wu, Yong ; Zhao, Junya ; Wu, Lingqian ; Zhou, Miaojin ; Liang, Desheng
Publisher:London: Nature Publishing Group UK
Journal title:Signal transduction and targeted therapy, 2022-06, Vol.7 (1), p.189-189, Article 189
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Showing 1 to 20 of 104 results

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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

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Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4

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XRCC2 mutation causes meiotic arrest, azoospermia and infertility

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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

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Aberrant expression of KDM1A inhibits ferroptosis of lung cancer cells through up-regulating c-Myc

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Assisted reproductive technology and risk of congenital malformations: a meta-analysis based on cohort studies

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Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome

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Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)

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PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation

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Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals

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Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis

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Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

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Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

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Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases

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Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2 affects stress granule assembly via TIA‐1

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Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review

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Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy

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CRISPR/Cas12a-Based Ultrasensitive and Rapid Detection of JAK2 V617F Somatic Mutation in Myeloproliferative Neoplasms

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Targeted B-domain deletion restores F8 function in human endothelial cells and mice

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