autosomal dominant disease

1. Experimental research on preimplantation genetic diagnosis for autosomal dominant polycystic kidney disease
   常染色体显性多囊肾疾病行胚胎植入前遗传学诊断的实验研究
2. Clinical Study of Laparoscopic Decortication Therapy for Patients with Autosomal Dominant Polycystic Kidney Disease
   经后腹腔镜肾囊肿去顶减压术治疗常染色体显性遗传性多囊肾
3. Genetic detection and prenatal diagnosis of autosomal dominant polycystic kidney disease in a family
   一成人型多囊肾家系的遗传检测及产前诊断
4. Clinical and Basic Research on Autosomal Dominant Polycystic Kidney Disease Before and after Renal Transplantation
   肾移植前后常染色体显性遗传多囊肾的临床与基础研究
5. Objective: To observe the clinical effect of laparoscopic renal cyst decortication in patients with autosomal dominant polycystic kidney disease.
   目的：观察经后腹腔镜肾囊肿去顶减压术治疗常染色体显性遗传性多囊肾病的临床效果。
6. Feasible surgical treatment of autosomal dominant polycystic liver disease associated with autosomal dominant polycystic kidney disease
   成人多囊肝、多囊肾病外科治疗可行性的探讨
7. Objective To explore the relationship of intracranial aneurysm ( ICA) and autosomal dominant polycystic kidney disease ( ADPKD).
   目的探讨颅内动脉瘤（ICA）与多囊肝肾病即常染色体显性遗传性多囊肾病（ADPKD）的关系。
8. Detection of the mutations of autosomal dominant polycystic kidney disease gene 2 in Chinese
   2型常染色体显性遗传性多囊肾病致病基因突变研究
9. The data obtained suggest that the familial hypertension is an autosomal dominant hereditary disease.
   所得结果支持家族性高血压为常染色体显性遗传。
10. Hereditary neuropathy with liability to pressure palsies ( HNPP) is a rare autosomal dominant inherited disease characterized by recurrent painless focal neuropathy precipitated by compression or trauma.
    遗传性压迫易感性神经病（hereditaryneuropathywithliabilitytopressurepalsies，HNPP）是一种少见的常染色体显性遗传的周围神经病。
11. Objective To explore the genetic pathogenesis of hypokalemic periodic paralysis ( HOKPP), an autosomal dominant disease by detecting gene mutation at related loci.
    目的通过检测相关基因的突变位点来研究低钾性周期性麻痹（HOKPP）这一常染色体显性遗传疾病的遗传学病因。
12. Conclusions GEFS~+ is autosomal dominant inheritance disease with conspicuous genetic heterogeneity and phenotypic heterogeneity.
    结论GEFS+为常染色体显性遗传性疾病，具有显著遗传异质性和表型异质性。
13. Although it is commonly considered to be an autosomal dominant heredity disease, there are still a few reports considering it as an autosomal recessive heredity disease.
    在遗传性质方面国内外论著大多将其划归为常染色体显性遗传，但也有报导常染色体隐性遗传者。
14. Analysis of clinical characteristics of 271 patients with autosomal dominant polycystic kidney disease
    271例常染色体显性遗传性多囊肾病患者临床分析
15. Characteristics of autosomal dominant polycystic kidney disease in Chinese Han population
    中国汉族人群常染色体显性多囊肾的临床特征
16. Pedigreed analysis revealed that there is an evident phenomenon of vertical transmission in familial hypertension. The data obtained suggest that the familial hypertension is an autosomal dominant hereditary disease.
    家系分析表明家族性高血压存在着明显的垂直传递现象；所得结果支持家族性高血压为常染色体显性遗传。
17. The gene of that disease is located at 12q23~ 24.1. Conclusions: The hereditary pattern of the actinic porokeratosis of "Hunan family" is autosomal dominant disease.
    该病基因定位在12q23.2～24.1。结论：湖南家系汗孔角化症遗传方式为常染色体显性遗传病。
18. Experimental Research on the Treatment of Autosomal Dominant Polycystic Kidney Disease with PPAR γ Agonists
    PPARγ激动剂治疗常染色体显性多囊肾病的实验研究
19. Hereditary angioedema ( HAE) is an autosomal dominant genetic disease caused by synthesis defect or dysfunction of C1 esterase inhibitor.
    遗传性血管性水肿是一种由于C1酯酶抑制剂的合成障碍或功能缺陷所致的常染色体显性遗传病。
20. Hot issues in current research of autosomal dominant polycystic kidney disease
    常染色体显性遗传性多囊肾病研究的热点问题
21. Objective To investigate the concentration of secreted protein acidic and rich in cysteine ( SPARC) in body fluid of patients with autosomal dominant polycystic kidney disease ( ADPKD) and the origin of its secretion.
    目的研究富含半胱氨酸的酸性分泌糖蛋白（SPARC）在常染色体显性多囊肾病（ADPKD）患者体液中的浓度及其分泌来源。
22. Objective: To elucidate the molecular mechanism of neurofibromatosis type 2 ( NF2) with autosomal dominant inheritance disease in a Chinese kindred.
    目的：探讨中国人常染色体显性遗传2型神经纤维瘤病的基因突变和分子诊断。
23. Objective To investigate the effect of recombinant human hepatocyte growth factor ( rhHGF) on the proliferation of autosomal dominant polycystic kidney disease ( ADPKD) cyst lining epithelial cells and its signal transduction mechanism.
    目的研究重组人肝细胞生长因子（rhHGF）对常染色体显性多囊肾病（ADPKD）囊肿衬里上皮细胞增殖的影响及其信号转导途径。
24. For Muir-Torre syndrome, the rare autosomal dominant disease, the clinical characteristics of patients are susceptible to sebaceous gland tumor ( or multiple keratoacanthoma) and visceral malignancies.
    对于Muir-Torre综合征这种罕见的显性遗传性疾病，其临床特点是患者易感皮脂腺肺瘤（或多发角化棘皮瘤）和内脏恶性肺瘤。
25. Dentatorubral-pallidoluysian atrophy ( DRPLA) is an autosomal dominant neurodegenerative disease characterized by a number of symptoms that include ataxia, tremor, myoclonus, chorea and dementia.
    齿状核红核苍白球丘脑底核萎缩（dentatorubral-pallidoluysianatrophy，DRPLA）是一种常染色体显性遗传的神经退行性疾病，临床表现有共济失调、震颤、肌肉痉挛、舞蹈症、痴呆等。
26. Gene mutations in human gene can cause various diseases. The human autosomal dominant brachydactyly type B ( BDB) and autosomal dominant polycystic kidney disease ( PKD) are due to gene mutation on chromosome.
    人类基因组上基因的突变可以引起各种各样疾病的发生，人的常染色体显性的B型短指和常染色体显性的多囊肾综合症就是由于染色体上的基因突变引起的。
27. Spinocerebellar ataxia type 3/ Machado-Joseph disease ( SCA3/ MJD) is a kind of autosomal dominant disease, which is characterized by degeneration of neurons and accumulation of aberrant protein aggregates in affected neurons.
    脊髓小脑型共济失调Ⅲ型/马查多-约瑟夫病（SCA3/MJD），是一种以神经细胞变性、细胞核内蛋白聚集体形成为病理特征的常染色体显性遗传病。
28. Hypertrophic obstructive cardiomyopathy ( HOCM) is an autosomal dominant genetic disease. Hypertrophic obstructive cardiomyopathy is the more common type of primary Cardiomyopathy.
    肥厚型梗阻性心肌病（HOCM）是一种显性遗传性疾病，肥厚型梗阻性心肌病是原发性心肌病中较常见的一种类型，是肥厚型心肌病的一种特殊类型。

noun

1. a disease caused by a dominant mutant gene on an autosome

   Synonym:    autosomal dominant disorder