{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T04:42:01Z","timestamp":1768452121524,"version":"3.49.0"},"reference-count":45,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,5,19]],"date-time":"2015-05-19T00:00:00Z","timestamp":1431993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,5,19]],"date-time":"2015-05-19T00:00:00Z","timestamp":1431993600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study investigates illness representations of subjects at\u2010risk for 3 autosomal dominant late\u2010onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington's disease (HD) and Machado\u2010Joseph disease (MJD), comparing them with the illness representations of subjects at\u2010risk for Hemochromatosis (HH). The present study included a clinical group that consisted of 213 subjects at genetic risk (FAP, HD and MJD), comprising 174 subjects at\u2010risk for FAP, 34 subjects at\u2010risk for HD and only 5 subjects at\u2010risk for MJD; and the control group consisting of 31 subjects at genetic risk for HH. All subjects at\u2010risk were undergoing the process of genetic counseling to learn their genetic status (carrier or non\u2010carrier). Subjects were assessed through a semi\u2010structured single interview, in order to obtain sociodemographic data and the answer to an open\u2010ended question relating to the illness representation issue: \u201cWhat does this illness mean to you?\/ What is this disease to you?\u201d It was in the subjects\u2019 metaphors that subjects best expressed what they felt regarding the disease and the situation of being at\u2010risk for this disease. Family is their mirror and their source of learning and, therefore, it is inevitable that family is related to the meaning of the disease itself.<\/jats:p>","DOI":"10.1007\/s10897-015-9846-4","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T23:34:12Z","timestamp":1431992052000},"page":"79-89","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Subjects At\u2010Risk for Genetic Diseases in Portugal: Illness Representations"],"prefix":"10.1002","volume":"25","author":[{"given":"\u00c2ngela","family":"Leite","sequence":"first","affiliation":[{"name":"Faculty of Psychology (ULP) Lusophone University of Oporto Rua Augusto Rosa n\u00b0 24 Porto 4000\u2010098 Portugal"},{"name":"Center for Predictive and Preventive Genetics (CGPP) Institute for Molecular and Cell Biology (IBMC) Porto Portugal"}]},{"given":"Maria Alzira P.","family":"Dinis","sequence":"additional","affiliation":[{"name":"Faculty of Science and Technology (FCT\u2010UFP) University of Fernando Pessoa Porto Portugal"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Salazar (ICBAS) Porto Portugal"},{"name":"Center for Predictive and Preventive Genetics (CGPP) Institute for Molecular and Cell Biology (IBMC) Porto Portugal"},{"name":"I3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade University Porto Oporto Portugal"}]},{"given":"Constan\u00e7a","family":"Pa\u00fal","sequence":"additional","affiliation":[{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Salazar (ICBAS) Porto Portugal"}]}],"member":"311","published-online":{"date-parts":[[2015,5,19]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Pensar e Agir: As Doen\u00e7as Gen\u00e9ticas e o Diagn\u00f3stico Pr\u00e9\u2010Natal.","author":"Andrade M. 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