云南高校图书馆联盟文献共享服务平台- EHLERS-DANLOS

EHLERS-DANLOS: 作品数：19被引量：10H指数：2; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：李杨方丽孙立忠黄岚杨宏宇更多>>; 相关机构：首都医科大学附属北京安贞医院上海医科大学附属华山医院第四军医大学西京医院万年县人民医院更多>>; 相关期刊：《World Journal of Clinical Cases》《心血管病防治知识》《Plastic and Aesthetic Research》《世界核心医学期刊文摘（皮肤病学分册）》更多>>; 相关基金：北京市博士后工作经费资助项目泰国研究基金更多>>

锌转运体ZIP13与疾病: 《基础医学与临床》2024年第12期1712-1716,共5页李欢欢马婧邓佩佩刘璇王树松; 河北省自然科学基金(H2022314001);河北省医学科学研究课题计划(20231201);2022年河北省政府资助临床优秀人才项目。; 锌是蛋白质合成、细胞增殖、迁移和自噬等多种生物过程的重要调节因子。锌转运体ZIP13(SLC39A13)是一种同源二聚体的金属转运蛋白,参与机体锌、铁和钙等离子的转运。ZIP13通过调节锌稳态参与疾病调控,如ZIP13在结缔组织发育中的关键作...; 关键词：锌转运体 ZIP13 Ehlers-Danlos综合症金属离子转运

表现为反复气胸、咯血的血管型Ehlers-Danlos 综合征1例: 《中华结核和呼吸杂志》2022年第6期577-579,共3页李秋钰张雨欣宋祝丁艳苓朱红孙永昌; 患者男性,16岁,入院前1年反复气胸、咯血、呼吸困难,于外院先后行5次胸腔闭式引流术,胸部CT示胸膜下肺大疱、右下肺团片状实变伴厚壁空洞形成,体检双手掌指关节、近端指关节、远端指关节可见过度活动,左侧踝部可见最大径1.5 cm淤血斑,...; 关键词：胸腔闭式引流术掌指关节血管型淤血斑厚壁空洞胸部CT 咯血呼吸困难

Ehlers-Danlos syndrome:prevalence and outcomes in gender affirming surgery-a single institution experience: 《Plastic and Aesthetic Research》2022年第1期605-613,共9页Alireza Najafian Isabel Cylinder Breanna Jedrzejewski Craig Sineath Zbigniew Sikora Leigh H.Martin Daniel Dugi Geolani W.Dy Jens Urs Berli; Aim:Patients with Ehlers-Danlos Syndrome(EDS)are considered to have an increased risk for wound healing complications.Surgeons may therefore be hesitant to offer elective surgeries,including gender-affirming surgeries...; 关键词：EHLERS-DANLOS GENDER TRANSGENDER gender affirmation SURGERY OUTCOMES

Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder被引量：2: 《Journal of Biosciences and Medicines》2019年第12期181-204,共24页Golder N. Wilson; A novel medical approach for qualifying DNA variants found by whole exome sequencing (WES) facilitates discovery of new gene-disease relationships and emphasizes that DNA change must be correlated with clinical findin...; 关键词：EHLERS-DANLOS Syndrome Connective Tissue DYSPLASIA Arthritis-Adrenaline DISORDER Articulo-Autonomic DYSPLASIA Whole Exome Sequencing Collagen GENES

Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions被引量：3: 《Journal of Biosciences and Medicines》2019年第6期149-168,共20页Golder N. Wilson; Findings in 1656 patients referred for evaluation of Ehlers-Danlos syndrome, 710 evaluated systematically using novel history and physical forms, defined a characteristic clinical pattern termed arthritis-adrenaline d...; 关键词：EHLERS-DANLOS Syndrome Arthritis-Adrenaline Disorder Connective Tissue DYSPLASIA HYPERMOBILITY DYSAUTONOMIA Joint LAXITY Skin Elasticity IBS POTS MCAD

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly被引量：1: 《Genes & Diseases》2019年第2期138-146,共9页Thunyaporn Budsamongkol Narin Intarak Thanakorn Theerapanon Somchai Yodsanga Thantrira Porntaveetus Vorasuk Shotelersuk; supported by the 90th Anniversary of Chulalongkorn University,Rachadapisek Sompote Fund;Faculty of Dentistry(DFR62003),Chulalongkorn University;Chulalongkorn Academic Advancement Into Its 2nd Century Project;Newton Fund;Thailand Research Fund(RSA6280001,DPG6180001);supported by Ratchadapisek Somphot Fund for Postdoctoral Fellowship,Chulalongkorn University,Thailand。; Osteogenesis imperfecta(OI)is mainly characterized by bone fragility and Ehlers-Danlos syndrome(EDS)by connective tissue defects.Mutations in COL1A1 or COL1A2 can lead to both syndromes.OI/EDS overlap syndrome is most...; 关键词：Bone-like dentin Collagen defect Dentinogenesis imperfecta Joint laxity Skeletal fragility Skin hypermobility

Anterior cervical corpectomy decompression and fusion for cervical kyphosis in a girl with Ehlers-Danlos syndrome:A case report被引量：1: 《World Journal of Clinical Cases》2019年第4期532-537,共6页Huang Fang Peng-Fei Liu Chang Ge Wen-Zhi Zhang Xi-Fu Shang Cai-Liang Shen Rui He; BACKGROUND Spinal deformities in Ehlers-Danlos syndrome(EDS; type VI) are generally progressive and severe. Surgical treatment has been described for kyphoscoliosis in the thoracolumbar spine. However, there are few s...; 关键词：CERVICAL KYPHOSIS EHLERS-DANLOS syndrome Anterior CERVICAL CORPECTOMY DECOMPRESSION and FUSION Case report

Clinical Syndromes Associated with Cardiovascular Diseases:A Review: 《Cardiovascular Innovations and Applications》2017年第B02期289-295,共7页Xing Sheng Yang Jing Ping Sun Bryan Yan; In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascula...; 关键词：Clinical SYNDROME MARFAN SYNDROME Down SYNDROME EHLERS-DANLOS SYNDROME FABRY disease LEOPARD SYNDROME Loeys-Dietz SYNDROME Noonan SYNDROME TURNER SYNDROME

Ehlers-Danlos綜合癥口腔表現1例: 《镜湖医学》2016年第1期77-77,91,F0003,共3页黃玉輝汪淼劉琴; comEhlers-Danlos綜合癥(Ehlers-Danlos syndrome,EDS)是一類罕見的遺傳性疾病,世界範圍內發生率約為1/5000[1],我國尚未有相關統計資料。本文對2010年於本院就診且隨訪觀察的1例Ehlers-Danlos綜合癥病例進行報導。患兒女,初診年齡為9歲...; 关键词：活動眼球突出 EHLERS-DANLOS 正手口腔脊柱

主动脉夹层发病相关的血管炎性疾病被引量：2: 《中国循证心血管医学杂志》2015年第3期412-413,共2页李杨孙立忠; 北京市博士后工作经费资助项目(2015ZZ-50); 主动脉夹层（aortic dissection，AD）是一种严重威胁人类健康和生命的心血管疾病。若不能及时诊治，24 h内死亡率每小时增加1~2%，50%在48 h内死亡，90%在一周内死亡。其危险程度远远超过了脑梗死、心肌梗死和恶性肿瘤。每年发病率约0...; 关键词：血管炎性疾病主动脉夹层年发病率 EHLERS-DANLOS Marfan综合症动脉壁损伤 AORTIC 主动脉二瓣化

EHLERS-DANLOS