Screening of family members of children with Familial Mediterranean Fever: True - autosomal and pseudo - autosomal inheritance [Rastreio dos membros da família de crianças com Febre Mediterrânica Familiar: Transmissão autossómica verdadeira e pseudo-autossómica]

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dc.authorid0000-0003-2327-4082en_US
dc.authorid0000-0003-1685-0352en_US
dc.authoridAtasoy, Halil İbrahim
dc.contributor.authorÇağlar, Musa Kazım
dc.contributor.authorAltugan, Fatma Şemsa
dc.contributor.authorÖzyurt, Hüseyin
dc.contributor.authorAtasoy, Halil İbrahim
dc.date.accessioned2021-06-23T19:21:04Z
dc.date.available2021-06-23T19:21:04Z
dc.date.issued2008
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractObjectives: Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive. Methods: Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members. Results: Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance. Conclusion: Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.en_US
dc.identifier.endpage420en_US
dc.identifier.issn0303-464X
dc.identifier.issue4en_US
dc.identifier.pmid19107086en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage415en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/6210
dc.identifier.urihttps://www.arprheumatology.com/oldsite/conteudo/pdfs/ARP_2008_4_415_09__AO_-_Screening_of_family.pdf
dc.identifier.volume33en_US
dc.identifier.wosWOS:000262022800006en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÇağlar, Musa Kazım
dc.language.isoenen_US
dc.publisherPublisaude-Edicoes Medicas Ldaen_US
dc.relation.ispartofActa Reumatologica Portuguesaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectInheritanceen_US
dc.subjectScreeningen_US
dc.subjectMutationen_US
dc.subjectMarenostrin Encoding Fever Geneen_US
dc.titleScreening of family members of children with Familial Mediterranean Fever: True - autosomal and pseudo - autosomal inheritance [Rastreio dos membros da família de crianças com Febre Mediterrânica Familiar: Transmissão autossómica verdadeira e pseudo-autossómica]en_US
dc.typeArticleen_US

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