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以多发性雀斑样痣为首发症状的LEOPARD综合征1例报告
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作者 管志伟 刘欣欣 +1 位作者 史伟杰 李钦峰 《中国中西医结合皮肤性病学杂志》 2025年第1期68-70,共3页
报告1例以多发性雀斑样痣为首发症状,合并颅面畸形及漏斗胸的LEOPARD综合征(LS)。基因检测示患儿12号染色体PTPN11基因第12号外显子杂合致病突变c.1403C>T(p.T468M),父母该位点无变异。LS是一种累及多系统的常染色体显性遗传性疾病,... 报告1例以多发性雀斑样痣为首发症状,合并颅面畸形及漏斗胸的LEOPARD综合征(LS)。基因检测示患儿12号染色体PTPN11基因第12号外显子杂合致病突变c.1403C>T(p.T468M),父母该位点无变异。LS是一种累及多系统的常染色体显性遗传性疾病,临床较为罕见,全球仅报告200余例患者,笔者拟普及临床医生对LS的认识。 展开更多
关键词 leopard综合征 PTPN11基因 突变
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Molecular detection and phylogenetic characterization of Rickettsia in ticks collected from leopard tortoise(Geochelone pardalis)in rural Zambia
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作者 Cynthia Sipho Khumalo Malala Mulavu +8 位作者 Katendi Changula Benjamin Mubemba Nchimunya Bubala Anne C.Martin Innocent Billy Ng'ombwa King Shimumbo Nalubamba Simbarashe Chitanga Walter Muleya Edgar Simulundu 《Science in One Health》 2024年第1期181-188,共8页
In sub-Saharan Africa,limited studies have investigated zoonotic pathogens that may be harboured by ticks infesting reptiles such as tortoises.Here,we report the presence of pathogenic Rickettsia in ticks(Amblyomma ma... In sub-Saharan Africa,limited studies have investigated zoonotic pathogens that may be harboured by ticks infesting reptiles such as tortoises.Here,we report the presence of pathogenic Rickettsia in ticks(Amblyomma marmoreum)collected from the leopard tortoise(Geochelone pardalis)in rural Zambia.Using polymerase chain reaction,56%(49/87)of ticks were positive for the Rickettsia outer membrane protein(ompB)gene.Multi-locus sequence and phylogenetic analysis based on the ompB,ompA,and citrate synthase(gltA)genes showed that the ticks carried R.africae,and other Rickettsia spp.closely related to R.raoultii,R.massiliae,R.tamurae and R.monacensis.Given the proximity between humans,livestock,and wildlife in these habitats,there exists a considerable risk of transmission of zoonotic Rickettsia to human populations in this rural setting.These results call for heightened awareness and further research into the dynamics of tick-borne diseases in regions where humans and animals coexist,particularly in the context of tortoise-associated ticks as vectors.Understanding and addressing these potential disease vectors is crucial for effective public health measures and the prevention of Rickettsia zoonoses. 展开更多
关键词 RICKETTSIA leopard tortoise Phylogenetic analysis Amblyomma marmoreum Zambia
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一个LEOPARD综合征小家系临床表型及遗传学特征分析 被引量:5
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作者 郭敏 李书聆 +6 位作者 李锐洁 江超武 张力 崔云华 王芳 朱兰 阮标 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2018年第4期358-361,共4页
目的研究一个LEOPARD综合征小家系的临床表型及遗传学特征。方法对LEOPARD综合征先证者(女,1岁4个月,未通过听力筛查)及其家庭成员(祖父母、外祖父母及父母等8人)进行病史调查、临床检查、听力学检查,并使用二代测序技术进行耳聋基因检... 目的研究一个LEOPARD综合征小家系的临床表型及遗传学特征。方法对LEOPARD综合征先证者(女,1岁4个月,未通过听力筛查)及其家庭成员(祖父母、外祖父母及父母等8人)进行病史调查、临床检查、听力学检查,并使用二代测序技术进行耳聋基因检测。并选取听力正常对照组100例(健康体检人群)进行相应位点的检测,以排除遗传学上常见的无功能多态。结果先证者及其父母均为双耳重度感音神经性聋(听阈≥90dB nHL),家族中其他成员均无耳聋病史;先证者除了耳聋外,超声心动图提示其患有肥厚性心肌病;患儿父亲除耳聋外还伴有肥厚性心肌病和面部颈部多发痣;其母亲无全身其他异常表现。耳聋基因检测提示先证者及其父亲为PTPN11基因c.1391G>C位点错义突变,其母亲和正常对照组未见该位点的突变。结论先证者及其父亲为LEOPARD综合征患者,本研究首次检测出中国人群中PTPN11基因c.1391G>C位点突变。 展开更多
关键词 leopard综合征 常染色体显性遗传 PTPN11基因 突变
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LEOPARD综合征患者PTPN11基因突变分析
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作者 高莹 高逸冰 康莉 《江苏医药》 CAS 2023年第3期303-305,F0003,共4页
目的分析1例LEOPARD综合征(LS)患者非受体型蛋白酪氨酸磷酸酶11(PTPN11)基因突变情况。方法提取LS家系成员(包括1例男性LS患者及其双亲)和100例正常人外周血白细胞基因组DNA,PCR扩增PTPN11基因的全部外显子并行DNA测序。结果检测到LS患... 目的分析1例LEOPARD综合征(LS)患者非受体型蛋白酪氨酸磷酸酶11(PTPN11)基因突变情况。方法提取LS家系成员(包括1例男性LS患者及其双亲)和100例正常人外周血白细胞基因组DNA,PCR扩增PTPN11基因的全部外显子并行DNA测序。结果检测到LS患者PTPN11基因新突变,其第7号外显子c.836A>G,导致第279位的酪氨酸残基被半胱氨酸残基替代。患者父母及与家系无血缘关系的100例正常人均未发现此突变。结论PTPN11基因第7号外显子c.836A>G突变是导致该例患者发生LS的特异突变。 展开更多
关键词 leopard综合征 遗传 非受体型蛋白酪氨酸磷酸酶11基因 基因突变
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Comparative Study on the Infrared Spectra of Straight Guard Hairs of Leopard Cat and Golden Cat
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作者 郭海涛 《Agricultural Science & Technology》 CAS 2013年第11期1683-1686,共4页
[Objective] The paper was to compare the infrared spectra of straight guard hairs of leopard cat and golden cat. [Method] The straight guard hairs of leopard cat and golden cat were detected and analyzed by FTIR (Fou... [Objective] The paper was to compare the infrared spectra of straight guard hairs of leopard cat and golden cat. [Method] The straight guard hairs of leopard cat and golden cat were detected and analyzed by FTIR (Fourier Transform Infrared Spectroscopy). [Result] There was significant interspecific difference in the infrared spectra and second derivative spectra for the middle part of guard hair. An evident M-shaped bimodal absorption peak appeared in golden cat at 648 and 654 cm-1, respectively, while did not appear in leopard cat. The second derivative spec-tra of golden cat at wave numbers from 709 to 763 cm -1 were mainly unimodal peaks with strong peak intensity, while that of leopard cat mainly was M-shaped bi-modal absorption peak with weak peak intensity. It indicated that there was obvious difference in the structure of protein side chain in guard hairs of these two animals. [Conclusion] The FTIR analysis showed great application foreground in the study of animal hairs for interspecific identification. 展开更多
关键词 leopard Cat Golden cat HAIRS FTIR (Fourier Transform Infrared Spec-troscopy)
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Assessment of habitat suitability of the snow leopard (Panthera uncia) in Qomolangma National Nature Reserve based on MaxEnt modeling 被引量:22
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作者 De-Feng Bai Peng-Ju Chen +3 位作者 Luciano Atzeni Lhaba Cering Qian Li Kun Shi 《Zoological Research》 SCIE CAS CSCD 2018年第6期373-386,共14页
Habitat evaluation constitutes an important and fundamental step in the management of wildlife populations and conservation policy planning. Geographic information system (GIS) and species presence data provide the ... Habitat evaluation constitutes an important and fundamental step in the management of wildlife populations and conservation policy planning. Geographic information system (GIS) and species presence data provide the means by which such evaluation can be done. Maximum Entropy (MaxEnt) is widely used in habitat suitability modeling due to its power of accuracy and additional descriptive properties To survey snow leopard populations in Qomolangma (Mt. Everest) National Nature Reserve (QNNR), Xizang (Tibet), China, we pooled 127 pugmarks, 415 scrape marks, and 127 non-invasive identifications of the animal along line transects and recorded 87 occurrences through camera traps from 2014-2017. We adopted the MaxEnt model to generate a map highlighting the extent of suitable snow leopard habitat in QNNR. Results showed that the accuracy of the MaxEnt model was excellent (mean AUC=0.921). Precipitation in the driest quarter, ruggedness, elevation, maximum temperature of the warmest month, and annual mean temperature were the main environmental factors influencing habitat suitability for snow leopards, with contribution rates of 20.0%, 14.4%, 13.3%, 8.7%, and 8.2% respectively The suitable habitat area extended for 7 001.93 km^2, representing 22.72% of the whole reserve. The regions bordering Nepal were the main suitable snow leopard habitats and consisted of three separate habitat patches Our findings revealed that precipitation, temperature conditions, ruggedness, and elevations of around 4 000 m a.s.I, influenced snow leopard preferences at the landscape level in QNNR. We advocate further research and cooperation with Nepal to evaluate habitat connectivity and to explore possible proxies of population isolation among these patches. Furthermore, evaluation of subdivisions within the protection zones of QNNR is necessary to improve conservation strategies and enhance protection. 展开更多
关键词 Qomolangma National Nature Reserve Snow leopard MAXENT Habitat suitability assessment TIBET
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RAF1基因新生突变致LEOPARD综合征1例并文献复习 被引量:1
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作者 张彩宁 王本臻 +1 位作者 纪志娴 李自普 《精准医学杂志》 2019年第5期401-404,共4页
目的对1例LEOPARD综合征患儿进行相关基因的检测,以明确其致病基因。方法收集疑似LEOPARD综合征患儿及其父母临床资料和外周血,设计捕获芯片,通过高通量二代测序、生物信息分析及突变验证进行基因突变检测。结果发现RAF 1基因新生突变c.... 目的对1例LEOPARD综合征患儿进行相关基因的检测,以明确其致病基因。方法收集疑似LEOPARD综合征患儿及其父母临床资料和外周血,设计捕获芯片,通过高通量二代测序、生物信息分析及突变验证进行基因突变检测。结果发现RAF 1基因新生突变c.1082G>C,其父母RAF 1基因正常。患儿智力落后,认知异常,皮肤粗糙,特殊分布的雀斑样痣,面部特殊,听力正常,视力下降,心电图显著异常,心脏超声显示肥厚型心肌病。结论RAF 1基因新生突变c.1082G>C为导致该患儿临床表型的原因。 展开更多
关键词 leopard综合征 基因检测 突变 RAF 1基因 体征和症状 儿童
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Whole-genome sequencing of leopard coral grouper(Plectropomus leopardus) and exploration of regulation mechanism of skin color and adaptive evolution 被引量:8
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作者 Yang Yang Li-Na Wu +5 位作者 Jing-Fang Chen Xi Wu Jun-Hong Xia Zi-Ning Meng Xiao-Chun Liu Hao-Ran Lin 《Zoological Research》 SCIE CAS CSCD 2020年第3期328-340,共13页
Leopard coral groupers belong to the Plectropomus genus of the Epinephelidae family and are important fish for coral reef ecosystems and the marine aquaculture industry. To promote future research of this species, a h... Leopard coral groupers belong to the Plectropomus genus of the Epinephelidae family and are important fish for coral reef ecosystems and the marine aquaculture industry. To promote future research of this species, a high-quality chromosome-level genome was assembled using PacBio sequencing and Hi-C technology. A 787.06 Mb genome was assembled, with 99.7%(784.57 Mb) of bases anchored to 24 chromosomes. The leopard coral grouper genome size was smaller than that of other groupers, which may be related to its ancient status among grouper species. A total of 22 317 proteincoding genes were predicted. This high-quality genome of the leopard coral grouper is the first genomic resource for Plectropomus and should provide a pivotal genetic foundation for further research. Phylogenetic analysis of the leopard coral grouper and 12 other fish species showed that this fish is closely related to the brown-marbled grouper.Expanded genes in the leopard coral grouper genome were mainly associated with immune response and movement ability, which may be related to the adaptive evolution of this species to its habitat. In addition, we also identified differentially expressed genes(DEGs) associated with carotenoid metabolism between red and brown-colored leopard coral groupers. These genes may play roles in skin color decision by regulating carotenoid content in these groupers. 展开更多
关键词 leopard coral grouper GENOME Evolution Skin color IMMUNE
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PTPN11基因Tyr279Cys杂合错义突变致Leopard综合征的中国汉族散发病例
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作者 曹勤 曹晓晓 王炎 《上海交通大学学报(医学版)》 CAS CSCD 北大核心 2015年第2期295-297,300,共4页
目的探讨Leopard综合征的临床特征及遗传学诊断。方法分析1例Leopard综合征的临床资料、体格检查、辅助检查及遗传学筛查,并复习相关文献。结果该患者为中国汉族的18岁男性,因劳累后心前区不适就诊。查体:发育正常,面部、身体、四肢、... 目的探讨Leopard综合征的临床特征及遗传学诊断。方法分析1例Leopard综合征的临床资料、体格检查、辅助检查及遗传学筛查,并复习相关文献。结果该患者为中国汉族的18岁男性,因劳累后心前区不适就诊。查体:发育正常,面部、身体、四肢、手掌和足底可见多发性斑痣,眼间距在正常范围上限,心前区可闻及3/6级收缩期杂音,听力及性腺检查均无异常。心电图和动态心电图提示完全性右束支传导阻滞。超声心动图、心脏介入以及磁共振检查确诊为左心室肥厚型心肌病及右心室流出道狭窄。遗传学筛查表明,该患者11型非受体蛋白酪氨酸磷酸化酶(PTPN11)基因的第7号外显子发生了Tyr279Cys杂合错义突变,其父母未见基因突变。结论此例中国汉族的Leopard综合征散发病例是由PTPN11基因发生了Tyr279Cys杂合错义突变所致。 展开更多
关键词 leopard综合征 错义 突变 散发
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Winter habitat use of snow leopards in Tomur National Nature Reserve of Xinjiang,Northwest China 被引量:1
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作者 Feng XU Ming MA +4 位作者 WeiKang YANG David BLANK YiQun WU Thomas MCCARTHY Bariusha MUNKHTSOG 《Journal of Arid Land》 SCIE 2012年第2期191-195,共5页
Snow leopards are one of the least known large cats, the population of which has dramatically de- creased. Their habitat loss was considered the main reason for the decline during the last decade, but their habitat pr... Snow leopards are one of the least known large cats, the population of which has dramatically de- creased. Their habitat loss was considered the main reason for the decline during the last decade, but their habitat preferences are still not well known. In this paper, we studied the winter habitat preferences of snow leopards in the Tomur National Nature Reserve (TNNR) in Northwest China during 2004-2005. We used sign surveys and tran- sects to study the winter habitat selection of snow leopards. The results indicated that snow leopards showed a preference for habitat variabilities in slope aspect, vegetation cover, dominant topographical features, landform ruggedness and grazing status. We found that prey availability and dominant topographical features were the most important factors that determined the winter habitat selection of snow leopards. Our results supported the idea that the habitat preferences of snow leopards are a tradeoff between suitable habitat features and avoidance of potential human interactions. 展开更多
关键词 snow leopard Panthera uncia sign survey habitat preferences Tomur National Nature Reserve
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PTPN11新生突变致LEOPARD综合征伴矮身材1例并文献复习 被引量:1
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作者 石磊 田红燕 +2 位作者 冉雯雯 周蔚然 刘丹 《中国儿童保健杂志》 CAS CSCD 2022年第3期343-345,共3页
LEOPARD综合征(leopard spot syndrome,LS;OMIM 151100)是一种罕见的先天性遗传性疾病,主要表现为多发性皮肤咖啡斑、雀斑样痣、心电图传导异常、肺动脉狭窄、生殖器异常、生长发育迟缓和感音神经性耳聋等;。
关键词 leopard综合征1型 PTPN11基因 基因诊断
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LEOPARD综合征患者中心血管异常的发生率和临床意义 被引量:1
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作者 Limongelli G. Pacileo G. +1 位作者 Marino B. 刘少伟 《世界核心医学期刊文摘(心脏病学分册)》 2007年第12期28-28,共1页
本研究拟在一组LEOPARD综合征患者中确定心血管受累的特征。26例患者(年龄0~63岁,研究评估时的中位年龄为17岁)接受了临床和基因方面的检查。在9例患者中发现有家族性疾病。19例患者(73%)存在心电图异常。19例患者(73%)出现左室(LV)肥... 本研究拟在一组LEOPARD综合征患者中确定心血管受累的特征。26例患者(年龄0~63岁,研究评估时的中位年龄为17岁)接受了临床和基因方面的检查。在9例患者中发现有家族性疾病。19例患者(73%)存在心电图异常。19例患者(73%)出现左室(LV)肥厚,其中包括9例LV流出道梗阻;8例患者(30%)出现右室肥厚。同时还观察到瓣膜(57%)和冠状动脉异常(15%)。 展开更多
关键词 患者 leopard 综合征 综合病症
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应用全外显子测序技术筛查LEOPARD综合征患者致病基因一例
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作者 鲁巧云 姜北雪 +1 位作者 王充 阳芳 《中国麻风皮肤病杂志》 2023年第11期796-799,共4页
目的:报道一例LEOPARD综合征(LS)患者并检测其基因突变。方法:收集患者临床资料,提取该患者及父亲外周血DNA,应用全外显子组高通量测序检测技术,筛查患者致病基因。结果:全外显子测序结果发现患者PTPN11基因12号外显子第1415位核苷酸发... 目的:报道一例LEOPARD综合征(LS)患者并检测其基因突变。方法:收集患者临床资料,提取该患者及父亲外周血DNA,应用全外显子组高通量测序检测技术,筛查患者致病基因。结果:全外显子测序结果发现患者PTPN11基因12号外显子第1415位核苷酸发生c.1415C>T杂合突变,导致第472号氨基酸由Thr变为Met(p.Thr472Met)。结论:PTPN11基因12号外显子c.1415C>T(p.Thr472Met)突变为该例LEOPARD综合征的致病突变位点。 展开更多
关键词 leopard综合征 PTPN11 多发性黑子 基因突变
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16S rRNA Gene Sequence Analysis of Snow Leopard, Gray Wolf, Horse and Bactrian Camel in Mongolia
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作者 Munkhtuul Tsogtgerel Munkhtogtokh Baljijjnyam +1 位作者 Nansalmaa Suren Lkhagvasuren Sodnom 《Journal of Agricultural Science and Technology(A)》 2017年第5期350-356,共7页
In this study, mitochondrial 16S rRNA sequences of snow leopard, gray wolf, domestic horse and Bactrian camel inhabited or domesticated in Mongolian territory were obtained by using polymerase chain reaction (PCR) b... In this study, mitochondrial 16S rRNA sequences of snow leopard, gray wolf, domestic horse and Bactrian camel inhabited or domesticated in Mongolian territory were obtained by using polymerase chain reaction (PCR) based on universal primers for 16S rRNA (F-5'-AACGAGCCTGGTGATA-3' and R-5'-CTCCGGTCTGAACTCAGATCACGTA-3'). The 16S rRNA sequence was 1,048 bp to 1,086 bp in length, and each sequence was compared to other related species (Felidae, Camelidae, Equidae and Canidae) by using NCBI Basic Local Alignment Search Tool (BLAST). Results showed that sequences were highly similar to sequences in GenBank database (93%-99%). Then phylogenetic analysis was performed based on about 1,100 bp sequence of 16S rRNA for Panthera uncia, Canis lupus, Equus caballus, Camelus bactrianus and other related species. The result revealed that P. uncia and P. leo were sister species, C. bactrianus and C. ferus were more closely related species, and wolf and dog were the almost similar species. This finding could be important for designing species specific primers for PCR based analysis of animal species identification and forensic veterinary medicine. 展开更多
关键词 16S rRNA gene sequence analysis snow leopard gray wolf HORSE Bactrian camel.
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Feeding Enrichment and Leopard Pacing in Zoo Dvtur Kralove, a.s.
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作者 Ivana Gardianova Ivona Svobodova Petra Stasakova 《Journal of Life Sciences》 2012年第9期1025-1027,共3页
The aim of this study was find out how change the stereotypical behavior especially pacing of Persian leopards and if the leopards in zoo will be more active after addition of EE (environmental enrichment) element. ... The aim of this study was find out how change the stereotypical behavior especially pacing of Persian leopards and if the leopards in zoo will be more active after addition of EE (environmental enrichment) element. There were 30 days observed 6 leopards: 2 females, 1 male and 3 cubs, with observation time per day about 300 min. 10 days were without enriched environment and 20 days with environment. The used elements were two big paper boxes with rabbit meat in each enclosure, laid out on the ground or hung on tree. All animals were in days with EE more active and the pacing was not observed or was reduced by females and cubs, male after giving the "toys" was active, but he was afraid of the big box first few days and the pacing was high. The EE had positive effect on animals. Some of the leopards spent more time with activity in succession--cubs with older female, young female and male. 展开更多
关键词 Feeding enrichment leopard PACING
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LEOPARD综合征一例
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作者 贾秀娟 燕红霞 +2 位作者 齐宝鹏 郭靖雪 木其日 《中国麻风皮肤病杂志》 2021年第10期668-669,共2页
患儿,男,6岁4个月。躯干四肢泛发雀斑样痣5年余。体格检查:眼距过宽,斜视,生长发育迟缓,低位螺旋外翻耳,双耳感音神经性耳聋;心脏异常。诊断:LEOPARD综合征。
关键词 泛发性雀斑样痣 leopard综合征
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Shark Leopard Pocket USB Modem
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《大众硬件》 2000年第6期46-46,共1页
优点:外形小巧,安装简便,能耗低缺点:在搜寻时间上不理想系统要求系统必须具备空闲的USB端口,Windows98系统。
关键词 调制解调器 USB端口 SHARK leopard POCKET USB MODEM
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Leopard 37 Powercat
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《中国船检》 2011年第2期73-76,共4页
总长:11.13米水线长度:10.95米型宽:4.47米吃水:0.88米排水量:6870千克油箱容量:780升水箱容量:440升发动机:110马力2台 该型游艇采用真空灌注工艺,船体采用由新西兰HighModulus公司研发的SmartPack加强结构件。
关键词 leopard 37-Powercat 船舶工程 游艇 真空灌注工艺
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Snow Leopard in the Himalayas
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《China's Tibet》 1998年第2期45-45,共1页
SnowLeopardintheHimalayasWUXINHUAThesnowleopardfoundintheHimalayasinTibethasaround,smallhead,measures1-1.3me... SnowLeopardintheHimalayasWUXINHUAThesnowleopardfoundintheHimalayasinTibethasaround,smallhead,measures1-1.3metersinlengthandwe... 展开更多
关键词 the HIMALAYAS leopard
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王者之争 Windows 7 & Snow Leopard在MacBook上的对决
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作者 NF-Jinjing 《移动信息》 2009年第3期73-77,共5页
在经历市场对Vista的萎靡反映后,微软(Microsoft)终于决定洗心革面,重新开始以用户的角度开发操作系统。而Mac OS X这一被苹果(Apple)自称是现今世界上最先进的操作系统,也没有放缓前进的脚步。面对苹果的步步进逼,从来都在对手阵营打... 在经历市场对Vista的萎靡反映后,微软(Microsoft)终于决定洗心革面,重新开始以用户的角度开发操作系统。而Mac OS X这一被苹果(Apple)自称是现今世界上最先进的操作系统,也没有放缓前进的脚步。面对苹果的步步进逼,从来都在对手阵营打胜仗的微软该如何面对苹果在自家本土的挑战呢?此次,MI特意将两个最新操作系统的Beta版分别安装在MacBook的两个不同分区内,带领各位米饭提进前入未来战场,体会一下这一王者之争。 展开更多
关键词 MACBOOK Snow leopard Windows 7 聊天软件 用户界面 操作系统 预览版
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