BRACHYDACTYLY

作品数：8被引量：17H指数：2
导出分析报告
相关领域：医药卫生更多>>
相关作者：邢立强赵秀丽侯惠敏单祥年张昊昱更多>>
相关机构：东南大学张家口医学院石家庄市妇产医院河北省人民医院更多>>
相关期刊：《中国优生与遗传杂志》《World Journal of Gastroenterology》《Chinese Medical Journal》《Genes & Diseases》更多>>
相关基金：上海市教育委员会重点学科基金国家自然科学基金泰国研究基金更多>>
-
在结果中检索

检索结果分析

结果分析中...
共 条 记 录，以下是1-8
全选清除导出
参考文献引证文献引用追踪
视图：
排序：
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum被引量：1
《Chinese Medical Journal》2019年第14期1681-1688,共8页Jia Huang Hong-Yan Liu Rong-Rong Wang Hai Xiao Dong Wu Tao Li Ying-Hai Jiang Xue Zhang 
Background:Brachydactyly,a developmental disorder,refers to shortening of hands/feet due to small or missing metacarpals/ metatarsals and/or phalanges.Isolated brachydactyly type E (BDE),characterized by shortened met...
关键词：BRACHYDACTYLY TYPE E Parathyroid-hormone-like HORMONE Pectus carinatum Short STATURE COPY number variation 
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 
An Isolated Case of Brachyphalangism of the Basal Finger Bones of the Little Finger with Symptoms of Tenosynovitis: A Case Report
《Open Journal of Rheumatology and Autoimmune Diseases》2018年第2期66-70,共5页Kazuhiko Hashimoto Ryosuke Kakinoki Yukiko Hara Naohiro Oka Hiroki Tanaka Kazuhiro Ohtani Masao Akagi 
Brachydactyly is a general term that refers to disproportionately short fingers and toes and forms a part of the group of limb malformations characterized by bone dysostosis. Brachydactyly usually occurs either as an ...
关键词：BRACHYDACTYLY BASAL FINGER Bones TENOSYNOVITIS PROXIMAL Interphalangeal Joint 
国人B1型短指/趾家系ROR2基因罕见的突变被引量：1
《中国优生与遗传杂志》2017年第10期86-87,F0003,共3页曹琴英 朱俊真 张为霞 张宁 葛军 王淑霞 张昊昱 
目的确定中国人B1型短指/趾家系的致病基因。方法采取外周血提取DNA,LM-PCR反应,产物直接高通量测序。结果在先证者中发现ROR2基因上一个杂合移码突变:c.2310del C(P.Ser771Alafs*3)。结论本文首次报告中国人B型短指/趾家系的致病基因突...
关键词：B1型短指(Brachydactyly) ROR2基因(ROR2gene) P.Ser771Alafs＊3 突变 
Abnormal layering of muscularis propria as a cause of chronic intestinal pseudo-obstruction:A case report and literature review被引量：2
《World Journal of Gastroenterology》2015年第22期7059-7064,共6页Napat Angkathunyakul Suporn Treepongkaruna Sani Molagool Nichanan Ruangwattanapaisarn 
Supported by Faculty of Medicine,Ramathibodi Hospital,Mahidol University,Thailand
Visceral myopathy is one of the causes of chronic intestinal pseudo-obstruction. Most cases pathologically reveal degenerative changes of myocytes or muscularis propia atrophy and fibrosis. Abnormal layering of muscul...
关键词：Abnormal layering of muscularis propria BRACHYDACTYLY Chronic intestinal pseudo-obstruction Serosal muscularization Short small bowel Visceral myopathy 
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels被引量：6
《Cell Research》2011年第9期1343-1357,共15页Gang Ma Jiang Yu Yue Xiao Danny Chan Bo Gao Jianxin Hu Yongxing He Shengzhen Guo Jian Zhou Lingling Zhang Linghan Gao Wenjuan Zhang Yan Kang Kathryn SE Cheah Guoyin Feng Xizhi Guo Yujiong Wang Cong-zhao Zhou Lin He 
This work was supported by the National Natural Science Foundation of China （30800613）, the 973 Program （2010CB529600, 2007CB947300）, the 863 Program （2009AA022701）, the Shanghai Municipal Commission of Science and Technology Program （09DJ1400601）, the Natural Science Foundation of Shanghai, China （Grant No. 08ZR1411000）, the National Key Project for the Investigation of New Drugs （2008ZX09312-003）, the Shanghai Leading Academic Discipline Project （B205）, and the General Research Fund of Hong Kong （HKU760608M）. The coauthor, Xizhi Guo, was supported by the ＂Pujiang Talent＂ Project （08PJ1407200）.
Brachydactyly type A1 （BDAI）, the first recorded Mendelian autosomal dominant disorder in humans, is characterized by a shortening or absence of the middle phalanges. Heterozygous missense mutations in the Indian He...
关键词：Indian hedgehog BDA1 diffusion HEPARIN crystal structure degradation 
Answering a century old riddle: brachydactyly type Al被引量：5
《Cell Research》2004年第3期179-187,共9页BoGAO LinHE 
This project was supported by NSFC/RGC joint Research Grant(No.N-HKU705/02);the Major State Basic Research Development Program of China(No.2001CB5 10301).
In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as ty...
关键词：BRACHYDACTYLY IHH GDF5 ROR2 BMPRIB. 
短指症(Brachydactyly)一家系调查及遗传分析被引量：1
《中国优生与遗传杂志》2002年第4期99-101,共3页赵秀丽 邢立强 单祥年 侯惠敏 
本文对中国河北一短指家系 94名成员调查 ,该家系 7代共有患者 2 6人 ,男性患者 10人 ,女性患者 16人 ;通过对 16名现存患者体查以及对先证者等 6名患者手足骨骼X线片分析 ,发现患者指 (趾 )短小主要源于中指 (趾 )骨、掌 (跖 )骨短小...
关键词：短指症 BDA1 PAX3 HOXD13 HOXA13 遗传异质性 
全选清除导出
共1页<1>
检索报告 对象比较 聚类工具 使用帮助 返回顶部