云南高校图书馆联盟文献共享服务平台- PEDIGREES

PEDIGREES: 作品数：22被引量：51H指数：5; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：喻琼高松金王小玲余发新高柱更多>>; 相关机构：江西省科学院江西广播电视大学更多>>; 相关期刊：《International Journal of Ophthalmology(English edition)》《Chinese Medical Journal》《Cardiovascular Innovations and Applications》《American Journal of Molecular Biology》更多>>; 相关基金：国家自然科学基金国家重点基础研究发展计划江西省科技支撑计划项目江西省星火计划更多>>

Genetic testing and prenatal diagnosis of 64 pedigrees with autosomal dominant polycystic kidney disease: 《China Medical Abstracts(Internal Medicine)》2024年第1期53-54,共2页王莉; Objective To detect and analyze the gene variation types of 64 unrelated pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD),and explore the detection efficiency of multiple gene analysis tech...; 关键词：DIAGNOSIS KIDNEY CLINICAL

A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees被引量：4: 《International Journal of Ophthalmology(English edition)》2021年第6期800-804,共5页Su-Ping Cai Lan Lu Xi-Zhen Wang Yun Wang Fen He Ning Fan Jing-Ning Weng Jun-Hua Zhang Xu-Yang Liu; the National Natural Science Foundation of China(No.81770924;No.82070963);Fujian Health and Family Planning Research Talent Training Project(No.2017-CX-18)。; AIM:To investigate the causal gene mutation and clinical characteristics for two Chinese families with autosomal dominant congenital coralliform cataract.METHODS:Two Chinese pedigrees with congenital cataract were inv...; 关键词：congenital cataract MUTATION CRYGD gene autosomal dominant

BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families:analysis of 6,591 Italian pedigrees被引量：1: 《Cancer Biology & Medicine》2021年第2期470-476,共7页Laura Cortesi Federica Domati Annalisa Guida Isabella Marchi Angela Toss Elena Barbieri Luigi Marcheselli Marta Venturelli Simonetta Piana Claudia Cirilli Massimo Federico; Objective:As prostate cancer(Pr C)shows a BRCA mutation rate as high as 30%,it becomes crucial to find the optimal selection criteria for genetic testing.The primary objective of this study was to evaluate the BRCA mu...; 关键词：BRCA genes prostate cancer hereditary cancer Modena criteria breast cancer ovarian cancer

Identifi cation of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing: 《Cardiovascular Innovations and Applications》2020年第2期229-237,共9页Ying Peng Jinxin Miao Yafei Zhai Guangming Fang Chuchu Wang Yaohe Wang Xiaoyan Zhao Jianzeng Dong; the National Key R&D Program of China(grant no.018YFC1312505 to X.Z.);the Henan University of Chinese Medicine(grant no.00104311-2019-55 to J.M.).; Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Tit...; 关键词：TTN mutations DCM heart failure

Analysis of extreme obesity in two pedigrees due to leptin receptor mutation: 《China Medical Abstracts(Internal Medicine)》2019年第2期84-84,共1页YE Jingya; Objective This study reported two extremly obesewomen who underwent metabolic surgery due to their mutationsin leptin receptor ( LEPR). Genomic DNA wasextracted from the anticoagulant blood samples of the twopatients ...; 关键词：BMI ANALYSIS EXTREME OBESITY LEPTIN receptor MUTATION

Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A〉G mutation被引量：9: 《Protein & Cell》2015年第11期844-848,共5页; Dear Editor, Hearing loss is one of the major public health problems. The mitochondrial DNA mutations has been found to be associ- ated with both aminoglycoside-induced and nonsyndromic hearing loss （FischeI-Ghodsian...

Pedigree and SSR Data Analysis Reveal Dominant Prevalence of Few Parents in Pedigrees of Pakistani Wheat Varieties: 《American Journal of Molecular Biology》2015年第1期1-6,共6页Muhammad Sajjad Sultan Habibullah Khan Rizwana Maqbool; The international recognition of the importance of genetic diversity demands continuous estimation of genetic diversity of in hand population as test of its buffering capacity against all putative threats. Randomly se...; 关键词：Genetic Diversity PEDIGREES SSR Wheat

Seed Morphology and Seedling Variation of Four Ornamental Lupin Pedigrees: 《Agricultural Science & Technology》2015年第1期57-62,67,共7页高柱王小玲刘腾云高松金喻琼余发新; Supported by Key Technology Research and Development Program of Jiangxi Province(20122BBF60111,20133BBG70013);Spark Program of Jiangxi Province(20141BBF61047);Industry-University-Research Cooperation Program of Jiangxi Academy of Sciences(2013-09)~~; [Objective] This study was conducted to reveal seed characteristics, variation and their effects on seedling growth of ornamental lupins. [Method] The phenotypic characteristics and germination rate of the seeds of fo...; 关键词：Ornamental lupin PEDIGREE Seed morphology Seedling variation Correlation analysis

Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation被引量：5: 《International Journal of Ophthalmology(English edition)》2012年第1期28-31,共4页Lei Shu Yong-Ming Zhang Xiao-Xiao Huang Chun-Yue Chen Xian-Ning Zhang; Supported by the National Natural Science Foundation of China(No.J0710043); AIM: To investigate mitochondrial factors associated with Leber hereditary optic neuropathy (LHON) through complete sequencing and analysis of the mitochondrial genome of Chinese patients with this disease. METHODS: T...; 关键词：Leber hereditary optic neuropathy mitochondrial DNA MUTATION mitochondrial respiratory complex I

A method for haplotype inference in general pedigrees without recombination: 《Chinese Science Bulletin》2007年第4期471-476,共6页WANG ChunKao WANG ZhiPeng QIU XiaoTian ZHANG Qin; Supported by the National Natural Science Foundation of China (Grant No. 30430500);the National Key Basic Research Program (Grant No. 2006CB102104); The abundance of single nucleotide polymorphisms (SNPs) makes the haplotype-based method instead of single-maker-oriented method the main approach to association studies on QTL mapping. The key problem in haploptype-b...; 关键词：单核多态性单倍型干扰谱系非重组计算方法 QTL

PEDIGREES