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Molecular genetic medicine最新文献

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Genetics, insurance, and the ethics of genetic counseling. 遗传学，保险，以及遗传咨询的伦理。
Molecular genetic medicine Pub Date : 1993-01-01 DOI: 10.1016/b978-0-12-462003-2.50010-9
M A Rothstein
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引用次数: 10
The fragile X syndrome. 脆性X染色体综合征。
Molecular genetic medicine Pub Date : 1992-12-01 DOI: 10.1097/00008480-199212000-00009
Robert T. Brown, Elaine M. Stringer, Siglia P. H. Camargo, Margot Boles
{"title":"The fragile X syndrome.","authors":"Robert T. Brown, Elaine M. Stringer, Siglia P. H. Camargo, Margot Boles","doi":"10.1097/00008480-199212000-00009","DOIUrl":"https://doi.org/10.1097/00008480-199212000-00009","url":null,"abstract":"Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About onethird of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 1","pages":"39-66"},"PeriodicalIF":0.0,"publicationDate":"1992-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/00008480-199212000-00009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61613170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hepatitis B virus biology and pathogenesis. 乙型肝炎病毒的生物学和发病机制。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50008-x
F V Chisari
{"title":"Hepatitis B virus biology and pathogenesis.","authors":"F V Chisari","doi":"10.1016/b978-0-12-462002-5.50008-x","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50008-x","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"67-104"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12507265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 39
The molecular genetics of Down syndrome. 唐氏综合症的分子遗传学。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50009-1
D M Holtzman, C J Epstein
{"title":"The molecular genetics of Down syndrome.","authors":"D M Holtzman,&nbsp;C J Epstein","doi":"10.1016/b978-0-12-462002-5.50009-1","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50009-1","url":null,"abstract":"<p><p>Major advances have occurred in the understanding of the genetics of DS since the discovery a little more than 30 years ago that it resulted from an extra copy of HSA-21. It has been learned that only a small region of HSA-21 is required in triplicate to produce at least some of the DS phenotype. Future work will clarify which regions are responsible for particular phenotypes of interest. The mechanisms by which extra genetic material leads to phenotypic abnormalities in DS and other aneuploidies appear to be complex. Although gene dosage effects are operative for many loci, they do not appear to be strictly operative for all genes. A more thorough understanding of the effects of aneuploidy on gene expression is needed. To understand adequately the mechanisms by which extra genetic material leads to particular phenotypic features will require the use of animal models. The trisomy 16 mouse, as well as new transgenic and partial trisomic mouse lines currently being developed, may be of particular help in this endeavor.</p>","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"105-20"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12628004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
Mammalian X chromosome inactivation. 哺乳动物X染色体失活。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50010-8
S M Gartler, K A Dyer, M A Goldman
{"title":"Mammalian X chromosome inactivation.","authors":"S M Gartler,&nbsp;K A Dyer,&nbsp;M A Goldman","doi":"10.1016/b978-0-12-462002-5.50010-8","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50010-8","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"121-60"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12628005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 95
Regulatory genes of human immunodeficiency viruses. 人类免疫缺陷病毒的调控基因。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50012-1
F Wong-Staal, W A Haseltine
{"title":"Regulatory genes of human immunodeficiency viruses.","authors":"F Wong-Staal,&nbsp;W A Haseltine","doi":"10.1016/b978-0-12-462002-5.50012-1","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50012-1","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"189-219"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12628007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 11
The fragile X syndrome. 脆性X染色体综合征。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50007-8
W T Brown, E C Jenkins
{"title":"The fragile X syndrome.","authors":"W T Brown,&nbsp;E C Jenkins","doi":"10.1016/b978-0-12-462002-5.50007-8","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50007-8","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"39-66"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12628008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 31
Molecular analysis of mutation in the human gene for hypoxanthine phosphoribosyltransferase. 人次黄嘌呤磷酸核糖基转移酶基因突变的分子分析。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50011-x
B Lambert, B Andersson, S M He, S Marcus, A M Steen
{"title":"Molecular analysis of mutation in the human gene for hypoxanthine phosphoribosyltransferase.","authors":"B Lambert,&nbsp;B Andersson,&nbsp;S M He,&nbsp;S Marcus,&nbsp;A M Steen","doi":"10.1016/b978-0-12-462002-5.50011-x","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50011-x","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"161-88"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12628006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
The impact of molecular biology on the diagnosis and treatment of hemoglobin disorders. 分子生物学对血红蛋白疾病诊断和治疗的影响。
Molecular genetic medicine Pub Date : 1992-01-01 DOI: 10.1016/b978-0-12-462002-5.50006-6
P E Berg, A N Schechter
{"title":"The impact of molecular biology on the diagnosis and treatment of hemoglobin disorders.","authors":"P E Berg,&nbsp;A N Schechter","doi":"10.1016/b978-0-12-462002-5.50006-6","DOIUrl":"https://doi.org/10.1016/b978-0-12-462002-5.50006-6","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"2 ","pages":"1-38"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/b978-0-12-462002-5.50006-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12628003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
An application of DNA sequencing to a human rights problem. DNA测序在人权问题上的应用。
Molecular genetic medicine Pub Date : 1991-01-01 DOI: 10.1016/b978-0-12-462001-8.50009-0
M C King
{"title":"An application of DNA sequencing to a human rights problem.","authors":"M C King","doi":"10.1016/b978-0-12-462001-8.50009-0","DOIUrl":"https://doi.org/10.1016/b978-0-12-462001-8.50009-0","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"1 ","pages":"117-31"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13003940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 21
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