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| 1 | Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation显示文摘Birth defects are caused by multiple factors,such as chromosome abnormality,environmental factors,and maternal factors.In this study,we focused on exploring the genetic causes of a non-consanguineous couple who suffered from four times of unsuccessful pregnancy due to unexplained recurrent fetal malformations with similar symptoms and normal chromosome copy number variations.Using trio-whole exome sequencing(trio-WES) for this couple and one of the affected fetuses,we found a mutation,c.1996 delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband,leading to Schaaf-Yang syndrome.To screen this mutation,we further performed preimplantation genetic diagnosis(PGD) strategy followed by a gene pedigree validation and pathogenicity analysis.After the transfer of a PGD-screened embryo,a normal newborn without previous abnormal symptoms was born(February 15,2019).We present the first data that identified a pathogenic gene(MAGEL2 c.1996 delC) in a fetus with Schaaf-Yang syndrome in the EAS(East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results. | Wei Guo Yanli Nie Zhiqiang Yan Xiaohui Zhu Yuqian Wang Shuo Guan Ying Kuo Wenxin Zhang Xu Zhi Yuan Wei Liying Yan Jie Qiao | 2019 | Science China(Life Sciences)2019，62，7： | 4 |
| 2 | Identifying normal embryos from reciprocal translocation carriers by whole chromosome haplotyping显示文摘Reciprocal translocation is a chromosomal structural abnormality that arises when two non-homologous chromosomes rearrange and attach with each other, an incidence that occurs in about 1/500to 1/625 newborns (Mackie and Scriven, 2002). This event typically does not lead to any significant loss of genetic material, thus reciprocal translocation carriers do not exhibit any severe | Zhiqiang Yan Yuqian Wang Yanli Nie Xu Zhi Xiaohui Zhu Meng Qin Shuo Guan Yixin Ren Ying Kuo Di Chang Wei Chen Peng Yuan Liying Yan Jie Qiao | 2018 | Journal of Genetics and Genomics2018，45，9： | 4 |
| 3 | The Synthesis of 7-[1-Aza-2-(dimethylamino)vinyl]-4-methylhydroquinolin-2-ones and their Isomerism in Different Solvents显示文摘The reaction of 7-amino-4-methyl-2(1H)-quinolone 1 and its 6-methyl derivative 2 with Vilsmeier reagent (DMF and POCl3) afforded 7-[1-aza-2-(dimethylamino)vinyl]-4-methyl- hydro- quinolin-2-one 3 and 7-[1-aza-2-(dimethylamino)vinyl]-4,6-dimethylhydroquinolin- 2-one 4, respec-tively. 1H-NMR analysis in different solvents indicated that isomerism occurred due to hindered rotation around the (CH3)2N-C:N σ-bond. The rotational energy barrier of 3 was calculated. | Qian ZHANG,1 Ying CHEN,1 Yun Hong ZHENG,1 Wan Yun SHENG,1 Peng XIA1* Yi XIA,2 Zheng Yu YANG,2 Kuo Hsiung LEE2 1Department of Organic Chemistry, The School of Pharmacy, Shanghai Medical University, 138 Yi Xue Yuan Road, Shanghai 200032 2Natural Products | 2001 | Chinese Chemical Letters2001，12，1： | 3 |
| 4 | A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis显示文摘Congenital contractural arachnodactyly(CCA,OMIM:121050),also known as Beals syndrome,belongs to a group of rare autosomal dominant(AD)diseases of connective tissue(Maslen et al.,1997).People with CCA share many distinguishing features,such as arachnodactyly,camp tod actyly,multiple joint contractures(especially finger,elbow,and knee joints),crumpled ears,scoliosis,pectus deformities,and muscular hypoplasia(Jurko et al.,2013).It exhibits no specific geographic or ethnic predilection(Frederic et al.,2009). | Jiaxin Li Yuqian Wang Xiaohui Zhu Yanli Nie Ying Kuo Shuo Guan Jin Huang Ying Lian Yangyu Zhao Rong Li Yuan Wei Jie Qiao Liying Yan | 2020 | Journal of Genetics and Genomics2020，47，5： | 2 |
| 5 | Increased apoptosis and suburothelial inflammation in patients with ketamine‐related cystitis: a comparison with non‐ulcerative interstitial cystitis and controls显示文摘 | Cheng‐Ling Lee Yuan‐Hong Jiang Hann‐Chorng Kuo | 2013 | BJU Int2013，，8： | 2 |
| 6 | In situ construction of ligand nano-network to integrin αvβ3 for angiogenesis inhibition显示文摘Angiogenesis occurs during the process of tumor growth,invasion and metastasis,and is essential for the survival of solid tumors.As an integrin significantly ove rexpressed in human tumor vascular endothelial cells,αvβ3 is a suitable targeting site for anti-angiogenesis of tumor.We designed and prepared a selfassembling peptide(SAP)with the ability to targeting αvβ3 and self-assembly.SAP formed nanoparticles in solution and transformed into nanofibrous network once specifically binding to integrin αvβ3 on the surface of human umbilical vein endothelial cells(HUVECs).The SAP network stably anchored on HUVECs over 24h,which consequently resulted in high-efficient inhibition of vascularization.In vitro anti-angiogenesis experiment displayed that the inhibition rate of tube-formation reached 94.9%.In vivo anti-angiogenesis array based on chick chorioallantoic membrane(CAM)model exhibited that the SAP had an inhibition rate up to 63.1%.These results indicated the outstanding anti-angiogenic ability of SAP,potentially for tumor therapy. | Ziming Chen Kuo Zhang Jiaqi Fan Yu Fan Chao Yang Wen Tian Yuan Li Wenliang Li Jingping Zhang Hao Wang Lei Wang | 2020 | Chinese Chemical Letters2020，31，12： | 2 |
| 7 | Thermal Insulation Materials of Alumina Based Porous Ceramics显示文摘Significant energy saving effects can be made through the improvement of furnace refractories,especially the thermal insulation refractories. In this study,the preparation and the application of different alumina based porous ceramics were briefly introduced. Alumina based porous ceramics were prepared combined foaming method with gelcasting,sol- gel process or cement curing process. The influences of different preparation methods on the sintering shrinkage, porosity, phase composition, microstructure, compressive strength and thermal conductivity were discussed. Alumina based porous ceramics with relatively high strength and low thermal conductivity could be obtained through the above mentioned methods. Compared with the traditional lining materials,about 40% energy could be saved when they were used as the furnace wall. | YUAN Bo CHEN Kuo HAN Jianshen DONG Binbin WANG Gang LI Hongxia | 2015 | China's Refractories2015，24，3： | 2 |
| 8 | The Efficacy of Second‐Line Anti‐ Helicobacter pylori Therapy Using an Extended 14‐Day Levofloxacin/Amoxicillin/Proton‐Pump Inhibitor Treatment – A Pilot Study显示文摘 | Seng‐Kee Chuah Wei‐Chen Tai Pin‐I Hsu Deng‐Chyang Wu Keng‐Liang Wu Chung‐Mou Kuo Yi‐Chun Chiu Ming‐Luen Hu Yeh‐Pin Chou Yuan‐Hung Kuo Chih‐Ming Liang King‐Wah Chiu Tsung‐Hui Hu | 2012 | Helicobacter2012，，5： | 2 |
| 9 | Effects of arecoline in relaxing human umbilical vessels and inhibiting endothelial cell growth显示文摘 | Kuo F C Wu D C Yuan S S | 2005 | J Perinat Med2005，33，5： | 1 |
| 10 | Treatment of distal tibial fractures by minimally invasive percutaneous plate osteosynthesis of three different plates: Results and cost- effectiveness analysis显示文摘 | Feng Chen Kao Yuan Kun Tu Kuo Yao Hsu | 2010 | Formosan Journal of Musculoskeletal Disorders2010，1，： | 1 |
| 11 | Syn- theses ,Thermal Properties, and Phase Mor-phologies of Novel Benzoxazines Functionalized with Polyhedral Oli- gomeric Silsesquioxane (POSS) Nanocomposites 显示文摘 | Lee Yuan Jyh Kuo Shiao Wei Su Yi Che | 2004 | Polymer2004，45，18： | 1 |
| 12 | Effects of arecoline in relaxing human umbilical vessels and inhibiting endothelial cell growth显示文摘 | KUO F C WU D C YUAN SS | 2005 | J Perinat Med2005，33，5： | 1 |
| 13 | Vascular endothelial growth factor 189Mrna isoform expression specially correlates with tumor angiogenesis,patient survival,and postoperative relapse in non-small-cell lung cancer显示文摘 | Yuan A Yu CJ Kuo SH | 2001 | J Clin Oncol2001，19，2： | 1 |
| 14 | Using human-centered design to improve the assault rifle显示文摘 | KUO CHENGLANG YUAN CHENGKANG LIU BOR- SHONG et ai | 2012 | Applied Ergonomics2012，43，6： | 1 |
| 15 | Bayesian analysis of hazard rate, change point, and cost-optimal burn-in time for electronic devices显示文摘 | Yuan T Kuo Y | 2010 | IEEE Transactions on Reliability2010，59，1： | 1 |
| 16 | A high step-up converter with a voltage multiplier module for a photovoltaic system显示文摘 | Kuo Ching Tseng Chi Chi Huang Wei Yuan Shih | 2013 | IEEE Transaction on Power Electronics2013，28，6： | 1 |
| 17 | Improving device efficiency of polymer/fullerene bulk heterojunction solar cells through enhanced crystallinity and reduced grain boundaries induced by solvent additives显示文摘 | Su M S Kuo C Y Yuan M C | 2011 | Advanced Materials2011，23，29： | 1 |
| 18 | Bayesian analysis of hazard rate, change point, and cost-optimal burn-in time for electronic devices显示文摘 | Yuan T Kuo Y | 2010 | IEEE Transactions on Reliability2010，59，1： | 1 |
| 19 | Mesenchymal Stem Cells Promote Formation of Colorectal Tumors in Mice显示文摘 | Kuo–Shu Tsai Shung–Haur Yang Yen–Ping Lei Chih–Chien Tsai Hsin–Wei Chen Chih–Yuan Hsu Ling–Lan Chen Hsei–Wei Wang Stephanie A. Miller Shih–Hwa Chiou Mien–Chie Hung Shih–Chieh Hung | 2011 | Gastroenterology2011，，3： | 1 |
| 20 | Bayesian Analysis of Hazard rate, Change Point, and Cost-Optimal Burn-in Time for Electron- ic Devices显示文摘 | YUAN T KUO Y | 2010 | IEEE Transactions on Reliability2010，59，1： | 1 |
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