{"id":"https://openalex.org/W72899996","doi":"https://doi.org/10.1007/s00393-011-0751-4","title":"MEFV-Mutationsspektrum bei famili\u00e4rem Mittelmeerfieber (FMF): Monozentrische Studie aus der t\u00fcrkischen \u00c4g\u00e4isregion","display_name":"MEFV-Mutationsspektrum bei famili\u00e4rem Mittelmeerfieber (FMF): Monozentrische Studie aus der t\u00fcrkischen \u00c4g\u00e4isregion","publication_year":2011,"publication_date":"2011-07-25","ids":{"openalex":"https://openalex.org/W72899996","doi":"https://doi.org/10.1007/s00393-011-0751-4","mag":"72899996","pmid":"https://pubmed.ncbi.nlm.nih.gov/21789721"},"language":"de","primary_location":{"id":"doi:10.1007/s00393-011-0751-4","doi":"https://doi.org/10.1007/s00393-011-0751-4","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00393-011-0751-4","pdf_url":null,"source":{"id":"https://openalex.org/S141282100","display_name":"Zeitschrift f\u00fcr Rheumatologie","issn_l":"0340-1855","issn":["0340-1855","1435-1250"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zeitschrift f\u00fcr Rheumatologie","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111407318","display_name":"I\u015f\u0131l \u00c7oker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210135126","display_name":"Izmir Tepecik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/038h97h67","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210135126"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"I. Coker","raw_affiliation_strings":["Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]},{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010630170","display_name":"A. Colak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210135126","display_name":"Izmir Tepecik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/038h97h67","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210135126"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"A. Colak","raw_affiliation_strings":["Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]},{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064459141","display_name":"I. Yolcu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210135126","display_name":"Izmir Tepecik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/038h97h67","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210135126"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"I. Yolcu","raw_affiliation_strings":["Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]},{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063107992","display_name":"Hakan T\u00fcrk\u00f6n","orcid":"https://orcid.org/0000-0003-1888-9322","observed_orcids":["https://orcid.org/0000-0003-1888-9322"]},"institutions":[{"id":"https://openalex.org/I4210135126","display_name":"Izmir Tepecik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/038h97h67","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210135126"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"H. T\u00fcrk\u00f6n","raw_affiliation_strings":["Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]},{"raw_affiliation_string":"Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Izmir, Turkey","institution_ids":["https://openalex.org/I4210135126"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006583045","display_name":"Sinem Nalbanto\u011flu","orcid":"https://orcid.org/0000-0002-7067-6220","observed_orcids":["https://orcid.org/0000-0002-7067-6220"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"S.M. Nalbantoglu","raw_affiliation_strings":["Department of Pediatrics, Molecular Medicine Laboratory, Ege University Faculty of Medicine, \u0130zmir, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Molecular Medicine Laboratory, Ege University Faculty of Medicine, \u0130zmir, Turkey","institution_ids":["https://openalex.org/I41641357"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5063107992"],"corresponding_institution_ids":["https://openalex.org/I4210135126"],"apc_list":{"value":3390,"currency":"USD","value_usd":3390},"apc_paid":null,"fwci":0.535,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.59327034,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"70","issue":"6","first_page":"511","last_page":"516"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10498","display_name":"Migraine and Headache Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.9990000128746033},{"id":"https://openalex.org/keywords/mefv-gene","display_name":"MEFV gene","score":0.8999999761581421},{"id":"https://openalex.org/keywords/m694v-mutation","display_name":"M694V mutation","score":0.8040000200271606},{"id":"https://openalex.org/keywords/e148q-mutation","display_name":"E148Q mutation","score":0.9150000214576721},{"id":"https://openalex.org/keywords/m680i-mutation","display_name":"M680I mutation","score":0.9290000200271606},{"id":"https://openalex.org/keywords/v726a-mutation","display_name":"V726A mutation","score":0.9980000257492065},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.8709999918937683},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.7440000176429749},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.8410000205039978},{"id":"https://openalex.org/keywords/aegean-region","display_name":"Aegean region","score":0.8840000033378601}],"concepts":[{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.9931970834732056},{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.9622231721878052},{"id":"https://openalex.org/C2776820843","wikidata":"https://www.wikidata.org/wiki/Q581349","display_name":"Serositis","level":3,"score":0.8629660606384277},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7686221599578857},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5129997134208679},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.46940767765045166},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.468121200799942},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4123436510562897},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4067825973033905},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.38016706705093384},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3596423864364624},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3545854091644287},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2224593460559845},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11476275324821472},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.07468175888061523}],"mesh":[{"descriptor_ui":"D000071198","descriptor_name":"Pyrin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014421","descriptor_name":"Turkey","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s00393-011-0751-4","doi":"https://doi.org/10.1007/s00393-011-0751-4","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00393-011-0751-4","pdf_url":null,"source":{"id":"https://openalex.org/S141282100","display_name":"Zeitschrift f\u00fcr Rheumatologie","issn_l":"0340-1855","issn":["0340-1855","1435-1250"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zeitschrift f\u00fcr Rheumatologie","raw_type":"journal-article"},{"id":"pmid:21789721","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21789721","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":"Zeitschrift fur Rheumatologie","raw_type":"Journal Article"},{"id":"pmh:a071c955-737e-4ea7-8681-d9801af4852b","doi":null,"is_oa":false,"landing_page_url":"https://avesis.comu.edu.tr/publication/details/a071c955-737e-4ea7-8681-d9801af4852b/oai","pdf_url":null,"source":{"id":"https://openalex.org/S7407055198","display_name":"\u00c7anakkale Onsekiz Mart University AVESIS","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1977146751","https://openalex.org/W1980442164","https://openalex.org/W1991447837","https://openalex.org/W2001747858","https://openalex.org/W2003753226","https://openalex.org/W2017851980","https://openalex.org/W2019700846","https://openalex.org/W2064524770","https://openalex.org/W2080667972","https://openalex.org/W2092168339","https://openalex.org/W2093593475","https://openalex.org/W2099043010","https://openalex.org/W2109496064","https://openalex.org/W2112875364","https://openalex.org/W2123254283","https://openalex.org/W2131709106","https://openalex.org/W2133616065","https://openalex.org/W2167353300","https://openalex.org/W2229424225","https://openalex.org/W2242165656","https://openalex.org/W2310105688"],"related_works":["https://openalex.org/W1990593128","https://openalex.org/W2910107245","https://openalex.org/W2993131614","https://openalex.org/W2050356748","https://openalex.org/W1979950894","https://openalex.org/W2417435957","https://openalex.org/W3116998281","https://openalex.org/W2112784323","https://openalex.org/W2002466168","https://openalex.org/W2009464220"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}