hereditary相关论文
先证者为8岁男性患儿，双眼视力进行性下降3年，视网膜电图表现为独特的闪光视网膜电图波形，视杆和视锥系统反应下降；但暗适应状态高刺激......
目的:Loeys-Dietz综合征为罕见的遗传性结缔组织疾病。分析伴显著骨骼畸形表现的Loeys-Dietz综合征一个家系的临床特征，并鉴定其致......
目的:揭示遗传性球形红细胞增多症（HS）骨髓红系造血的代偿特征，探究不同程度贫血对骨髓造血代偿的影响。方法:收集2014年7月至2020年9......
We give criteria when a full subcategory D of the category of groups has C-universal factorization property (C-UFP) or C......
Analysis and Thinking on the Medical Expertise of 5462 Disabled Children in the Three Gorges Reservo
Objective: To explore the types of hereditary and non-hereditary diseases and the regional distribution of disabled chil......
The Synergistic Effect of C634Y/V292M RET Trans Mutations within the Multiple Endocrine Neoplasia Ty
Background: Genetic analysis for germline mutations in the RET proto-oncogene has provided a basis for the individual ma......
目的:确定1个Schubert-Bornschein型不完全型先天性静止性夜盲（CSNB）家系的致病基因突变。方法:回顾性临床研究。2021年2月于河南省......
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目的:报道4例男性X连锁Alport综合征n COL4A5突变嵌合体病例，为该病的家庭诊断、遗传咨询和再生育提供科学依据与指导，增强临床......
目的:分析一个X连锁显性遗传Alport综合征家系n COL4A5基因的剪接突变位点，探索外显子特异性U1核小RNA（small nuclear RNA，snRNA......
Leber遗传性视神经病变（LHON）是一种罕见的遗传性视神经疾病，目前对其发病原因和发病机制的认识相对清楚。随着艾地苯醌等新型药物的......
Leber遗传性视神经病变（LHON）是一种母系遗传性线粒体遗传病，以双眼无痛性视力丧失为主要表现，患者视力预后一般较差。近年来光相干断......
【Abstract】Einstein said： interest is the best teacher in the new curriculum standards of middle school English teaching......
BACKGROUND Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal dominant genetic disease.Very few patients suff......
BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families:analy
Objective:As prostate cancer(Pr C)shows a BRCA mutation rate as high as 30%,it becomes crucial to find the optimal selec......
Symptomatic Val122del mutated hereditary transthyretin amyloidosis: Need for early diagnosis and pri
Background: Hereditary transthyretin(ATTRv) amyloidosis is an autosomal dominant disease linked to transthyretin gene mu......
Objective To explore the molecular pathogenesis of a family with hereditary factor V (F V) deficiency.Methods All the ex......
Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutati
BACKGROUND Hereditary spherocytosis(HS)is a common type of hemolytic anemia caused by a red cell membrane disorder.HS ty......
人诱导多潜能干细胞（hiPSC）可定向分化为眼特定细胞组织，在视网膜细胞移植、角膜移植、晶状体再生等领域有应用前景；成簇规律间隔短回......
原著标题:Symmctrical synovitis of the knee in hereditary syphilis.刊载杂志:Lancet,1886,1:391-393原著作者:Clutton Henry H......
First, that prime C~* -algebras with countable primitive ideals are all primitive C*-algebras is proved. Then the proof ......
Characterizations of hereditary subalgebras generated by subsets of a C*-algebra are given through open projections.Usin......
In this paper, the conception of generators of vector fields with the general characteris-tic is introduced and the corr......
遗传性血管性水肿(hereditary angioedema, HAE)是补体系统中最常见的遗传病.本病临床特征是反复发作的急性局限性水肿,在生化检......
遗传性肾炎(hereditary nephritis)既是泌尿系统异常,又是脂质代谢异常的疾病。1874年Samelsohn首先提出遗传性肾脏病,1875年Dick......
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PreliminaryobservationonthemetabolisminspontaneoushereditarydiabeticChinesehamster (Shanyicolony) HuMin H......
目的分析携带线粒体DNA(mitochondrial DNA,mtDNA)11778突变者视神经病变的外显率.方法对经基因诊断确定为mtDNA11778突变的Leber......
Clinical phenotypes,ALK1 gene mutation and level of related plasma proteins in Chinese hereditary he
Background We determined the diagnosis of hereditary hemorrhagic telangiectasis (HHT) in a suspected HHT family,identifi......
Purpose:To investigate the clinical and hereditary features of a Chinese Han pedigree with familial vitreous amyloidosis......
近年来,铁代谢及其调节机制的研究取得了一系列突破性进展,有力地促进了遗传性血色病(hereditary he-mochromatosis,HH)的分子机制......
This essay reviews and sums up about the major achievement of forestry sciences-and technology in the past 50 years in ......
Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal-dominantly inherited disease that occurs in approximately ......
This review focuses on the management of iron metabolism and iron overload experienced in the hereditary condition, huma......
We report a case of severe, refractory gastrointestinal(GI) bleeding in a patient with hereditary hemorrhagic telangiect......
目的了解中国人的非典型遗传性非息肉病性结直肠癌 (HNPCC)的临床及病理特点 ,并对标准进行讨论。方法随访非典型HNPCC患者共 10家......
AIM:To study the clinical characteristics of hereditarynonpolyposis colorectal cancer(HNPCC)in the Chinesepopulation an......
AIM:To explore the germline mutations of the two mainDNA mismatch repair genes (hMSH2and hMLH1) betweenpatients with he......
Somatic mutations of APC gene in carcinomas from hereditary non-polyposis colorectal cancer patients
AIM:To investigate the mutational features of adenomatouspolyposis coli (APC) gene and its possible arising mechanismin......
Simulation study on the formation and transition properties of cluster structures in liquid metals d
For the first time, a molecular dynamics simulation study has been performed for a liquid metal system consisting of 500......
瘢痕疙瘩（ KD）是病理性瘢痕的一种，其发病机制十分复杂，目前对其治疗仍无突破性进展。 KD在各人种间的遗传异质性、易感变异效应各不相......
遗传因素作为心血管疾病的一个重要病因,正逐渐受到重视.心脏对氧化代谢的强大依赖使得线粒体基因的改变在心肌病的发生发展中扮演......
目的评价脐带血淋巴细胞染色体核型分析在孕中晚期胎儿染色体异常诊断中的作用。方法对临床有产前诊断指征的22～26周龄孕妇，在B超引......
Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant ge
AIM: To describe the patt of inheritance and confirm the diagnosdc criteria of primary shunt hyperbilirubinaemia (PSH).M......
目的探讨腹腔镜下十二指肠斜形侧侧吻合术治疗新生儿先天性环状胰腺的可行性。方法回顾性分析2015年1月至2017年5月间江苏省淮安市......
腓骨发育不全或不发育(FAH)是指腓骨部分或完全不发育,在下肢畸形中非常罕见.过去文献中报道过的FAH病例通常合并面部、骨骼、消化......
目的 分析中国南方汉族人家族性激素耐药型肾病综合征(SRNS)家系NPHS2基因突变及其特点.方法 研究对象为A、B、C 3个南方汉族人SRN......
1例17岁女性患者确诊为Ⅰ型遗传性血管性水肿后给予6-氨基己酸4g/d静脉滴注。第1次用药约1 h时患者出现头痛、恶心,逐渐发展为双颞......
