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| 1 | A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome显示文摘The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing. BCOR of 60 unrelated normal individuals were also sequenced as a control group. Clinical phenotyping and follow-up study results indicate that this patient had multiple system anomalies including ocular, facial, cardiac, dental, and limb malformations. In addition, papilloma of the choroid plexus was identified, which represents the first report of this phenotype in an OFCD patient. A novel deletion mutation, c.1296 delT in exon4 of the BCOR gene, was identified in this patient and was not found in her parents or in 60 normal unrelated individuals. This deletion was a frameshift mutation and is proposed to encode a premature stop codon, thus producing a truncated protein. Our patient fitted the diagnostic criteria for OFCD syndrome and we report the first papilloma of the choroid plexus in an OFCD patient, expanding the recognized phenotypic spectrum of this disease. Meanwhile, we identified a novel deletion mutation that may cause OFCD syndrome. | Jingshang Zhang Hongyan Jia Jinda Wang Ying Xiong Jing Li Xiaoxia Li Jing Zhao Xiaohui Zhang Qisheng You Guyu Zhu Frank F.Tsai Mark Espina Xiuhua Wan | 2019 | Science China(Life Sciences)2019，62，1： | 6 |
| 2 | 亚太区2005生态足迹与自然财富(上)显示文摘亚太区各国已共同做出坚决承诺。矢志迈向可持续发展的目标。我们希望区内所有人民均可拥有更美好的生活,与此同时维护地球拥有的支援万物生长的能力,尊重地球自然资源的极限。面对今日亚太区以至全世界人口持续增长。消费模式不断改变,我们怎样才能实现这个目标? | Emil Salim Mathis Wackernagel Justin Kitzes Deborah Cheng Steven Goldfinger James Espinas Dan Moran Chad Monfreda Jonathan Loh Dermont O'Gorman Idy Wong | 2006 | 世界环境2006，，4： | 2 |
| 3 | Laser-capture microdissection显示文摘 | Espina V Wulfkuhle JD Calvert VS | 2006 | Nature Protocols2006，1，2： | 1 |
| 4 | Orthotopic microinjection of human colon cancer cells in nude mice induces tumor foci in all clinically relevant metastatic sites 显示文摘 | Cespedes M V Espina C Garcia-Cabezas M A | 2007 | Am J Pathol2007，170，3： | 1 |
| 5 | Orthotopic microinjection of human colon cancer cells in nude mice induces tumor foci in all clinically relevant metastatic sites 显示文摘 | Cespedes MV Espina C Garcia-Cabezas MA | 2007 | Am J Pathol2007，170，3： | 1 |
| 6 | Speed Anti-Windup PI strategies review for field oriented control of permanent mag-net synchronous machines 显示文摘 | Jordi Espina Antoni Arias | 2009 | Power Electronics Controllers for Power Systems2009，，： | 1 |
| 7 | Attacking breastcancer at the preinvasion stage by targeting autophagy 显示文摘 | Espina V Wysolmerski J Edmiston K | 2013 | Womens Health2013，9，2： | 1 |
| 8 | Protein microarray detection strategies:focus on direct detection technologies显示文摘 | Espina V Woodhouse EC Wulfkuhle J | 2004 | J Immunol Methods2004，290，： | 1 |
| 9 | Glucocortieoid-induced DNA demethylation and gene memory during development 显示文摘 | Thomassin H Flavin M Espinas ML | 2001 | EMBO J2001，20，8： | 1 |
| 10 | Orthotopic microinjection of human colon cancer cells in nude mice induces tumor foci in all clinically relevant metastatic sites显示文摘 | Cespedes M V Espina C Garcia-Cabezas M A | 2007 | Am J Pathol2007，170，3： | 1 |
| 11 | Spironolactone and eaptopril attenuates isoproterenol-induced cardiac remodeling in rats显示文摘 | Gallego M Espina L Vegas L | 2001 | Pharmacological Res2001，44，4： | 1 |
| 12 | The simulation method of the galvanic coupling intrabody communication with different signal transmission paths 显示文摘 | Yong S Baldus H Espina J | 2011 | Instrumentation and Measurement IEEE Transactions on2011，60，23： | 1 |
| 13 | Human securin interacts with P53 and modulates p53 mediated transcriptional activity and apoptosis 显示文摘 | Bernal JA Luna R Espina A | 2002 | Nat Genet2002，32，2： | 1 |
| 14 | Plug'n play simplicity for wire- less medical body sensors显示文摘 | Falck T Baldus H Espina J | 2007 | Mobile Networks and Applications2007，12，23： | 1 |
| 15 | Orthotopic microinjection of human colon cancer cells in nude mice induces tumor foci in all clinically relevant metastatic sites显示文摘 | Cespedes MV Espina C Garela-Cabezas MA | 2007 | Pathol2007，170，3： | 1 |
| 16 | Energy budget of Ictalurus punctatus exposed to constant and fluctuating temperatures 显示文摘 | Sierra E Diaz F Espina S | 1999 | Riv Ita Acquacolt1999，34，： | 1 |
| 17 | Chemical compositionof commercial citrus fruit essential oils and evaluation of theirantimicrobial activity acting alone or in combined processes 显示文摘 | Espina L Somolinos M Loran S | 2011 | Food Control2011，22，： | 1 |
| 18 | Ortho- topic microinjection of human colon cancer cells in nude mice induces tumor foci in all clinically relevant metastatic sites显示文摘 | Cespedes MV Espina C Garcf a-Cabezas MA | 2007 | Am J Pathol2007，170，： | 1 |
| 19 | Orthotopic microinjection of human colon cancer cells in nude mice induces tumor foci in all clinically relevant metastatic sites显示文摘 | Espina C Garcia-Cabezas M A | 2007 | Am J Pathol2007，170，3： | 1 |
| 20 | Differential expression of Rac1 identifies its target genes and its contribution to progression of colorectal cancer显示文摘 | Del Pulgar TG Bandr'es E Espina C | 2007 | Int J Biochem Cell Biol2007，39，12： | 1 |
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