{"id":"https://openalex.org/W147615660","doi":null,"title":"Portuguese study of familial dilated cardiomyopathy: the FATIMA study.","display_name":"Portuguese study of familial dilated cardiomyopathy: the FATIMA study.","publication_year":2008,"publication_date":"2008-09-01","ids":{"openalex":"https://openalex.org/W147615660","mag":"147615660","pmid":"https://pubmed.ncbi.nlm.nih.gov/19044174"},"language":"en","primary_location":{"id":"pmid:19044174","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19044174","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10400.18/316","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013578840","display_name":"Elisabete Martins","orcid":"https://orcid.org/0000-0002-6944-2953","observed_orcids":["https://orcid.org/0000-0002-6944-2953"]},"institutions":[{"id":"https://openalex.org/I3018176973","display_name":"Hospital de S\u00e3o Jo\u00e3o","ror":"https://ror.org/04qsnc772","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I3018176973"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Elisabete Martins","raw_affiliation_strings":["Servi\u00e7o de Cardiologia-Hospital de S\u00e3o Jo\u00e3o, Faculdade de Medicina do Porto, Porto, Portugal. bernardes_med@hotmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Cardiologia-Hospital de S\u00e3o Jo\u00e3o, Faculdade de Medicina do Porto, Porto, Portugal. bernardes_med@hotmail.com","institution_ids":["https://openalex.org/I3018176973"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029004008","display_name":"Jos\u00e9 Silva\u2010Cardoso","orcid":"https://orcid.org/0000-0002-9774-9864","observed_orcids":["https://orcid.org/0000-0002-9774-9864"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Silva-Cardoso","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030155801","display_name":"Manuel Bicho","orcid":"https://orcid.org/0000-0002-5773-5687","observed_orcids":["https://orcid.org/0000-0002-5773-5687"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Manuel Bicho","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044113713","display_name":"Mafalda Bourbon","orcid":"https://orcid.org/0000-0001-8843-3799","observed_orcids":["https://orcid.org/0000-0001-8843-3799"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mafalda Bourbon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014330709","display_name":"F\u00e1tima Ceia","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F\u00e1tima Ceia","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113532791","display_name":"Maria Jos\u00e9 Rebocho","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Jos\u00e9 Rebocho","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075183775","display_name":"Brenda Moura","orcid":"https://orcid.org/0000-0001-6158-7368","observed_orcids":["https://orcid.org/0000-0001-6158-7368"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Brenda Moura","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010519775","display_name":"C\u00e2ndida Fonseca","orcid":"https://orcid.org/0000-0003-3019-5956","observed_orcids":["https://orcid.org/0000-0003-3019-5956"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C\u00e2ndida Fonseca","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Maria Jos\u00e9 Correia","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maria Jos\u00e9 Correia","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039330490","display_name":"Dulce A. Brito","orcid":"https://orcid.org/0000-0003-1278-1847","observed_orcids":["https://orcid.org/0000-0003-1278-1847"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dulce Brito","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108587435","display_name":"Carlos Perdig\u00e3o","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carlos Perdig\u00e3o","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012784898","display_name":"Hugo Costa Madeira","orcid":"https://orcid.org/0000-0003-4291-2289","observed_orcids":["https://orcid.org/0000-0003-4291-2289"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hugo Madeira","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5072669688","display_name":"Cassiano Abreu\u2010Lima","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cassiano Abreu-Lima","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2355,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.62682211,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":97},"biblio":{"volume":"27","issue":"9","first_page":"1029","last_page":"42"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11112","display_name":"Viral Infections and Immunology Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2725","display_name":"Infectious Diseases"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-dilated-cardiomyopathy","display_name":"familial dilated cardiomyopathy","score":0.9739999771118164},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.4320000112056732},{"id":"https://openalex.org/keywords/sarcomeric-proteins","display_name":"sarcomeric proteins","score":0.6119999885559082},{"id":"https://openalex.org/keywords/nuclear-envelope-proteins","display_name":"nuclear envelope proteins","score":0.8989999890327454},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8980000019073486},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.8090000152587891},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.5680000185966492},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.7620000243186951},{"id":"https://openalex.org/keywords/portuguese-population","display_name":"Portuguese population","score":0.8190000057220459}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.7732705473899841},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7218502759933472},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.6925061345100403},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4768984317779541},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.460094153881073},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4365171790122986},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.42317214608192444},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.41450464725494385},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4041585624217987},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3947659134864807},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.3392309546470642},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3170028328895569},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.24931049346923828},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13281482458114624}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011174","descriptor_name":"Portugal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"pmid:19044174","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19044174","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology","raw_type":"Journal Article"},{"id":"pmh:oai:repositorio.insa.pt:10400.18/316","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10400.18/316","pdf_url":"http://hdl.handle.net/10400.18/316","source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"},{"id":"pmh:oai:repositorio.ulisboa.pt:10451/34779","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10451/34779","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"},{"id":"pmh:oai:run.unl.pt:10362/188849","doi":null,"is_oa":true,"landing_page_url":"https://www.revportcardiol.org/","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"},{"id":"mag:147615660","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19044174","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:repositorio.insa.pt:10400.18/316","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10400.18/316","pdf_url":"http://hdl.handle.net/10400.18/316","source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Study Protocol","id":"https://openalex.org/study-designs/study-protocol"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W147615660.pdf","grobid_xml":"https://content.openalex.org/works/W147615660.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W1489130191","https://openalex.org/W1978953141","https://openalex.org/W1997065988","https://openalex.org/W1997672443","https://openalex.org/W2019166705","https://openalex.org/W2021839309","https://openalex.org/W2027653569","https://openalex.org/W2042346825","https://openalex.org/W2048944289","https://openalex.org/W2057174913","https://openalex.org/W2060648861","https://openalex.org/W2111321537","https://openalex.org/W2129302503","https://openalex.org/W2135302420","https://openalex.org/W2144221808","https://openalex.org/W2146578470","https://openalex.org/W2154626777","https://openalex.org/W2157439965","https://openalex.org/W2315633478","https://openalex.org/W2318201098","https://openalex.org/W2356682284","https://openalex.org/W2766431870","https://openalex.org/W3150044715"],"related_works":["https://openalex.org/W7065633433","https://openalex.org/W4248786170","https://openalex.org/W2373962831","https://openalex.org/W3027712349","https://openalex.org/W1991217181","https://openalex.org/W2413112914","https://openalex.org/W2111321537","https://openalex.org/W7100850925","https://openalex.org/W196194830","https://openalex.org/W2083087816"],"abstract_inverted_index":{"Dilated":[0],"cardiomyopathy":[1],"(DCM)":[2],"is":[3,53,115],"a":[4,23,99,117,125,146],"myocardial":[5],"disease,":[6],"characterized":[7],"by":[8,37],"ventricular":[9],"dilatation":[10],"and":[11,56,133,152],"impaired":[12],"systolic":[13],"function,":[14],"that":[15],"in":[16,35,57,63,85,89,98,109,130,134,159],"more":[17],"than":[18],"30%":[19],"of":[20,41,51,81,92,102,107,128,136,145,155],"cases":[21,59,135],"has":[22],"familial":[24,110,156],"or":[25,39,45,69,88],"genetic":[26],"origin.":[27],"Given":[28],"its":[29],"age-dependent":[30],"penetrance,":[31],"DCM":[32,82,111,157],"frequently":[33],"manifests":[34],"adults":[36],"signs":[38],"symptoms":[40],"heart":[42],"failure,":[43],"arrhythmias":[44],"sudden":[46],"death.":[47],"The":[48,139],"predominant":[49],"mode":[50],"inheritance":[52],"autosomal":[54],"dominant,":[55],"these":[58],"mutations":[60,97,108,129],"are":[61],"identified":[62],"genes":[64],"coding":[65],"for":[66,96,119,124],"cytoskeletal,":[67],"sarcomeric":[68],"nuclear":[70],"envelope":[71],"proteins.":[72],"To":[73],"date,":[74],"most":[75],"studies":[76],"aimed":[77,149],"at":[78,150],"molecular":[79,153],"diagnosis":[80],"have":[83],"been":[84],"selected":[86],"families,":[87],"larger":[90],"groups":[91],"patients,":[93],"but":[94],"screening":[95,123],"limited":[100],"number":[101],"genes.":[103],"Consequently,":[104],"the":[105,143,160],"epidemiology":[106],"remains":[112],"unknown.":[113],"There":[114],"thus":[116],"need":[118],"multicenter":[120,147],"studies,":[121],"involving":[122],"wide":[126],"range":[127],"several":[131],"families":[132],"idiopathic":[137],"DCM.":[138],"present":[140],"article":[141],"describes":[142],"methodology":[144],"study,":[148],"clinical":[151],"characterization":[154],"patients":[158],"Portuguese":[161],"population.":[162]},"counts_by_year":[{"year":2019,"cited_by_count":4},{"year":2015,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}