autosomal相关论文
3. Chromosomal instability in B-lymphoblasotoid cell lines from Werner”s and Bloom”s syndrome patien
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Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful preg
BACKGROUND Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduc......
Successful endoscopic surgery for emphysematous pyelonephritis in a non-diabetic patient with autoso
BACKGROUND Emphysema pyelonephritis(EPN)is a very dangerous type of urinary tract infection.It is a lethal disease that ......
Spontaneous coronary dissection should not be ignored in patients with chest pain in autosomal domin
BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possib......
目的:对1例线粒体过氧化物酶分裂缺陷致死性脑病患儿的临床特征及DNM1L基因变异进行分析，明确其可能的致病原因，为临床诊断提供依据......
Charcot-Marie-Tooth(CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diag......
Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in diff......
Associations of the decoy receptor and osteoprotegerin gene polymorphisms with ulcerative colitis in
Objective To investigate the correlation between decoy receptor(DcR)1,DcR2 and osteoprotegerin(OPG)gene polymorphisms wi......
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphos......
In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of ......
HEREDITARY angioedema (HAE) is an autosomal dominant inherited condition which was initially described by Osler in 1888.......
Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing er
Autosomal recessive cerebellar ataxias(ARCA) are a clinically and genetically heterogeneous group of rare neurodegenerat......
Gitelman’s syndrome(GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC......
Cystic fibrosis(CF)is the most common autosomal recessive disease of the Caucasian population worldwide,with respiratory......
Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willeb
The European Clinical Laboratory and Molecular(ECLM) criteria define 10 distinct Willebrand diseases(VWD) recessive typ......
Cleidocranial dysplasia(CD) is an autosomal dominant syndrome which is characterized by several skeletal malformations s......
The genetic load for hereditary hearing impairment in Chinese population and its clinical implicatio
Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabili......
Nervous system tumors represent unique neoplasms that arise within the central and peripheral nervous sys-tem.While the......
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and cl
Background Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of neur......
Huntington disease (HD) is a chronic autosomal-dominant neurodegenerative disease. The gene coding Huntingtin has been i......
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated
Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered......
Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomai dominant ge
AIM: To describe the pattern of inheritance and confirm the diagnostic criteria of primary shunt hyperbilirubinaemia (PS......
常染色体显性遗传性多囊肝病(autosomal dominant polycystic liver disease,ADPLD,MIM174050),简称多囊肝(polycystic liver dise......
AIM: To evaluate outcomes in patients with autosomal dominant polycyst liver disease (APLD) treated by combined hepatic ......
Neurodegenerative disorders,including Alzheimer’s disease(AD) and Parkinson’s disease(PD),are common disorders of the ......
At present, at least 14 genes thatare strongly associated withParkinson’s disease (PD) havebeen identified. Studies hav......
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chin
The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were ......
Wilson’s disease(WD),or hepatolenticular degeneration,is an autosomal recessive inheritance disorder of copper metaboli......
阜阳市局 ￡4a 局长——_MINtkMMtgj’＃lnH＄B——q.M——D收束志不他只邀狲位J则【科校为先导推动地租工作.B为广为戳民U用凶盼引眯B.......
阜阳市局 ￡4a 局长——_MINtkMMtgj’＃lnH＄B——q.M——D收束志不他只邀狲位J则【科校为先导推动地租工作.B为广为戳民U用凶盼引眯B.......
Huntington’s disease(HD) is an autosomal-dominant neurodegenerative disease characterized by the selective loss of neur......
AChinese family with autosomal dominant retinitis pigmentosa and a pro 347 Leur hodopsin gene mutati
ｅｔｉｎｉｔｉｓｐｉｇｍｅｎｔｏｓａ (ＲＰ )ｉｓａｃｌｉｎｉｃａｌｌｙａｎｄｇｅｎｅｔｉｃａｌｌｙｈｅｔｅｒｏｇｅｎｅｏｕｓｇｒｏｕｐｏｆｒｅｔｉｎａｌｄｅｇｅｎｅｒａｔｉｏｎｓｔｈａｔａｒｅｃｈａｒａｃｔｅｒｉｚｅｄｂｙｌｏｓｓｏｆｐｈｏｔｏｒｅｃｅｐ
etinitispigmentosa (RP) isaclinically and geneticallyheterogeneousgroupofretinaldegenerationsthatarecharacterizedb......
Imaging manifestations of von Hippel-Lindau disease: a report of 3 casesImaging manifestations of vo
Von Hippel-Lindau (VHL) disease is an autosomal dominant here ditary familial neoplasm syndrome characte rized by develo......
Wilson’s disease(WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in ......
本病首由Eulenberg氏(1886年)依据其仅于遇冷时发生肌强直及无力两大特征而从先天性肌强直与营养不良性肌强直中区分出来作为一个......
本文利用a-珠蛋白基因3HVR探针对一个存在儿童期发病的成人型囊肾病(adult polycystic kidney disease,APKD)家系进行研究,发现该......
Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal reces
AIM To investigate the therapeutic potential of tesevatinib(TSV),a unique multi-kinase inhibitor currently in Phase Ⅱ c......
Retinitis pigmentosa is a common ophthalmological monogenic-inheritance disease. It has been confirmed that the patterns......
Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatmen......
Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mut......
Alagille syndrome(AGS,OMIM#118450)is amulti-system,autosomal dominant disorder withvariable clinical manifestation,whic......
Multiple familial trichoepithelioma is a rare autosomal dominant skin disease that presents as many small tumours predom......
Background Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels.Thisstudy w......
Peutz-Jeghers syndrome (PJS), also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic d......
Neurofibromatosis type1 (NF1), also known as Von Recklinghausen’s disease with approximate occurrence of 1/3000 births,......
Hereditary angioedema (HAE) is an autosomal dominant condition that affects one in about 50 000 persons,characterized by......
遗传性多囊肾病常见为常染色体显性遗传性多囊肾病和常染色体隐性遗传性多囊肾病两种类型，先天性肝纤维化是一种常染色体隐性遗传性......
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
用Ｍｏｒｔｏｎ的不完全确认条件下的分离分析方法，对１４１个原发性高血压核心家庭进行假设检测及最大似然估计，在ＩＢＭ微机上进行计算，结果表明，根据不同病例......
