{"title":"Acatalasemia","authors":"Acatalasemia","doi":"10.32388/p5a35o","DOIUrl":"https://doi.org/10.32388/p5a35o","url":null,"abstract":"Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes, which is the most common form of diabetes. A higher percentage of people with acatalasemia have type 2 diabetes than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69638923","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}
{"title":"Nonisotopic in situ hybridization. Clinical cytogenetics and gene mapping applications.","authors":"M Adinolfi, J Crolla","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18763867","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}
{"title":"Genetic disorders of pigmentation.","authors":"R A Spritz, V J Hearing","doi":"10.1007/978-1-4757-9062-7_1","DOIUrl":"https://doi.org/10.1007/978-1-4757-9062-7_1","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-1-4757-9062-7_1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18545559","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}
{"title":"High-resolution replication bands compared with morphologic G- and R-bands.","authors":"R Drouin, G P Holmquist, C L Richer","doi":"10.1007/978-1-4757-9062-7_2","DOIUrl":"https://doi.org/10.1007/978-1-4757-9062-7_2","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-1-4757-9062-7_2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18763868","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}
{"title":"Molecular genetics of Charcot-Marie-Tooth neuropathy.","authors":"B B Roa, J R Lupski","doi":"10.1007/978-1-4757-9062-7_3","DOIUrl":"https://doi.org/10.1007/978-1-4757-9062-7_3","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-1-4757-9062-7_3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18763865","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}
{"title":"Marfan's syndrome and other microfibrillar diseases.","authors":"H C Dietz, F Ramirez, L Y Sakai","doi":"10.1007/978-1-4757-9062-7_4","DOIUrl":"https://doi.org/10.1007/978-1-4757-9062-7_4","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-1-4757-9062-7_4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18763866","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}
{"title":"Nonisotopic In Situ Hybridization","authors":"M. Adinolfi, J. Crolla","doi":"10.1007/978-1-4757-9062-7_5","DOIUrl":"https://doi.org/10.1007/978-1-4757-9062-7_5","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51044054","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}
{"title":"Peroxisomal diseases.","authors":"H W Moser","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19303215","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}
{"title":"Genetic aspects of cancer.","authors":"A D Goddard, E Solomon","doi":"10.1007/978-1-4615-3010-7_4","DOIUrl":"https://doi.org/10.1007/978-1-4615-3010-7_4","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19303217","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}
{"title":"Genetic mutations affecting human lipoproteins, their receptors, and their enzymes.","authors":"V I Zannis, D Kardassis, E E Zanni","doi":"10.1007/978-1-4615-3010-7_3","DOIUrl":"https://doi.org/10.1007/978-1-4615-3010-7_3","url":null,"abstract":"","PeriodicalId":50952,"journal":{"name":"Advances in Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-1-4615-3010-7_3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19377116","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}