云南高校图书馆联盟文献共享服务平台- PEDIGREE

PEDIGREE: 作品数：113被引量：159H指数：6; 导出分析报告; 相关领域：医药卫生农业科学更多>>; 相关作者：陈洁平梁永厚王瑞军徐双年毕春侠更多>>; 相关机构：马斯公司第三军医大学西南医院河套大学内蒙古农业大学更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金国家高技术研究发展计划北京市自然科学基金国家重点基础研究发展计划更多>>

MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy:A case report and review of literature: 《World Journal of Clinical Cases》2025年第15期22-31,共10页Ying Hong Zhen Fan Yi Guo Hui-Hui Ma Sheng-Zhi Zeng Hu-Tao Xi Jing Yang Kai Luo Rong Luo Xiao-Ping Li; Supported by National Natural Science Foundation of China,No.81770379.; BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress ...; 关键词：Dilated phase of hypertrophic cardiomyopathy PEDIGREE MYH7 gene Missense mutation Literature review Case report

Morphological typology pedigree of centripetal spatial schema in traditional Chinese settlements: 《Frontiers of Architectural Research》2024年第6期1198-1214,共17页Wei Jia Lijun Wang; funded by the Key Project of the National Natural Science Foundation of China(NSFC)(Grant No.52038007).; Centripetality,as a spatial prototype characterized by“collective memory”,manifests within the context of traditional Chinese culture as the inherent concept of“human-centeredness”which have existed since ancient ...; 关键词：Traditional settlements Centripetal spatial schema Morphological typology pedigree

Utilizing resequencing big data to facilitate Brassica vegetable breeding:tracing introgression pedigree and developing highly specific markers for clubroot resistance被引量：1: 《Horticultural Plant Journal》2024年第3期771-783,共13页Zhiyong Ren Jinquan Li Xingyu Zhang Xingxu Li Junhong Zhang Zhibiao Ye Yuyang Zhang Qijun Nie; supported by the China Agriculture Research System(Grant No.CARS-23-A13);Hubei Agrotechnical Major Project(Grant No.2021-620-000-001-01);Wuhan Major Project of Key Technologies in Biological Breeding and New Variety Cultivation(Grant No.2022021302024852);HZAU-AGIS Cooperation Fund(Grant No.SZYJY2023022).; Clubroot caused by Plasmodiophora brassicae is a devastating disease of Cruciferous crops.Developing cultivars with clubroot resistance(CR)is the most effective control measure.For the two major Brassica vegetable spe...; 关键词：BRASSICA Clubroot resistance RESEQUENCING Introgression analysis Molecular marker

A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases: 《International Journal of Ophthalmology(English edition)》2023年第12期1962-1970,共9页Hong-Dou Luo Shao-Nan Pei Ai-Jia Wang Xue-Qing Yu Hai-Jian Hu Ling Zeng Fei-Fei Wang Ming Jin Xu Zhang; Supported by the National Natural Science Foundation of China(No.81271425,No.81860170);the Natural Science Foundation of Jiangxi Province(No.20181ACG70010).; AIM:To characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa(RP)and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family.METHODS:Ophthalmic c...; 关键词：retinitis pigmentosa GLAUCOMA wholeexome sequencing RHO

Multi-organ hereditary hemorrhagic telangiectasia:A case report: 《World Journal of Clinical Cases》2023年第28期6831-6840,共10页Ying-Ling Chen Hong-Yue Jiang Dong-Ping Li Jiang Lin Yun Chen Li-Li Xu Hong Gao; BACKGROUND Type 2 hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal dominant disease and is associated with ALK1 gene mutations.Type 2 HHT patients primarily suffer from recurrent bleeding.There is current...; 关键词：Hereditary hemorrhagic telangiectasia PEDIGREE ALK1 Gene mutation Case report

Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype: 《China Medical Abstracts(Internal Medicine)》2023年第3期157-158,共2页张航; Objective To identify and analyze 3D architecture of the mutational sites of susceptible genes in a pedigree with familial hypercholesterolemia-like phenotype(FHLP).Methods This is a case series study.A pedigree with ...; 关键词：admitted FAMILIAL WHOLE

Resulting of pedigree and topology of centripetal spatial schema in Chinese traditional cities: 《Frontiers of Architectural Research》2023年第4期664-682,共19页Wei Jia Lijun Wang Hong Heng Chong; the National Natural Science Foundation of China(NSFC)Key Program(No.52038007).; Chinese Traditional Maps and Local Chronicles serve as significant sources for investigating the urban history of ancient Chinese cities.These documents prioritize the abstract representation of topological relationsh...; 关键词：Traditional cities Ancient map CENTRIPETAL Pedigree of types Topological characteristic

Townes–Brocks syndrome with adult renal impairment in a Chinese family:A case report: 《World Journal of Clinical Cases》2023年第23期5567-5572,共6页Jing Wu Jun Zhang Tang-Li Xiao Ting He; Supported by Joint Medical Project of Science and Technology Commission of Chongqing,No.2021MSXM164.; BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible ...; 关键词：Townes-Brocks syndrome SALL1 Renal impairment PEDIGREE Whole exon sequencing Case report

A new form of familial platelet disorder caused by germline mutations in RUNX1 in a pedigree: 《China Medical Abstracts(Internal Medicine)》2023年第2期123-124,共2页关军; Objective To investigate the clinical and biological characteristics of familial platelet disorder(FPD)with germline Runt-related transcription factor(RUNX)1 mutations.Methods Patients diagnosed with myelodysplastic s...; 关键词：RUNX1 FAMILIAL ACUTE

De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants被引量：1: 《Blood Science》2023年第2期125-130,共6页Chuanhe Jiang Hao Zhang Chuxian Zhao Luxiang Wang Xiaoxia Hu Zengkai Pan; National Natural Science Foundation of China(grant numbers 81770106,82170206).; Rothmund-Thomson syndrome(RTS)is a rare autosomal-recessive disorder with clinical features consisting of rash,poikiloderma,sparse hair,short stature,juvenile cataracts,skeletal abnormalities,and cancer predisposition...; 关键词：Myelodysplastic Syndrome PEDIGREE RECQL4 Rothmund-Thomson Syndrome Whole Exome Sequencing

PEDIGREE