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dc.contributor.authorKiranatlioglu, Kubra
dc.contributor.authorKuru, Seda
dc.contributor.authorZamani, Aysegul
dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorAtes, Esra Arslan
dc.contributor.authorALTIOK CLARK, ÖZDEN
dc.contributor.authorTOYLU, ASLI
dc.contributor.authorCOŞKUN, MERT
dc.contributor.authorNUR, BANU
dc.contributor.authorBilge, Ilmay
dc.contributor.authorBayramicli, Oya Uygur
dc.contributor.authorEMMUNGİL, HAKAN
dc.contributor.authorKomesli, Zeynep
dc.contributor.authorZeybel, Mujdat
dc.contributor.authorGurakan, Figen
dc.contributor.authorTasdemir, Mehmet
dc.contributor.authorKebudi, Rejin
dc.contributor.authorKARABULUT, HALİL GÜRHAN
dc.contributor.authorTUNCALI, TİMUR
dc.contributor.authorKUTLAY, NÜKET
dc.contributor.authorYÜCE KAHRAMAN, Çiğdem
dc.contributor.authorOnder, Nerin Bahceciler
dc.contributor.authorBeyitler, Ilke
dc.contributor.authorKAVUKÇU, SALİH
dc.contributor.authorTulay, Pinar
dc.contributor.authorTOSUN, ÖZGÜR
dc.contributor.authorTuncel, Gulten
dc.contributor.authorMocan, Gamze
dc.contributor.authorKale, Hamdi
dc.contributor.authorUyguner, Zehra Oya
dc.contributor.authorAcar, Aynur
dc.contributor.authorAltinay, Mert
dc.contributor.authorErdem, Levent
dc.contributor.authorÇETİN, GÖKHAN OZAN
dc.contributor.authorDÜNDAR, MUNİS
dc.contributor.authorFAHRİOGLU, UMUT
dc.contributor.authorYildiz, Saliha Handan
dc.contributor.authorBakir-Gungor, Burcu
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.authorAKIN, HALUK
dc.contributor.authorARTAN, SEVİLHAN
dc.contributor.authorCora, Tulin
dc.contributor.authorŞAHİN, FERİDE İFFET
dc.contributor.authorDURSUN, AHMET
dc.contributor.authorSezer, Ozlem
dc.contributor.authorGÜRKAN, HAKAN
dc.contributor.authorErdogan, Murat
dc.contributor.authorSEMERCİ GÜNDÜZ, CAVİDAN NUR
dc.contributor.authorBİŞGİN, ATIL
dc.contributor.authorÖZDEMİR, ÖZTÜRK
dc.contributor.authorÜLGENALP, AYFER
dc.contributor.authorPERÇİN, FERDA EMRİYE
dc.contributor.authorYILDIRIM, MALİK EJDER
dc.contributor.authorTEKEŞ, SELAHADDİN
dc.contributor.authorBAĞIŞ, HAYDAR
dc.contributor.authorYÜCE, HÜSEYİN
dc.contributor.authorDUMAN, NİLGÜN
dc.contributor.authorBOZKURT, GÖKAY
dc.contributor.authorYararbas, Kanay
dc.contributor.authorYILDIRIM, MAHMUT SELMAN
dc.contributor.authorARMAN, AHMET
dc.contributor.authorMIHÇI, ERCAN
dc.contributor.authorEraslan, Serpil
dc.contributor.authorALTINTAŞ, ZUHAL
dc.contributor.authorAymelek, Huri Sema
dc.contributor.authorILGIN RUHİ, HATİCE
dc.contributor.authorTATAR, Abdulgani
dc.contributor.authorErgoren, Mahmut Cerkez
dc.contributor.authorÇAĞLAYAN, AHMET OKAY
dc.contributor.authorYuksel, Berrin
dc.contributor.authorÖZKUL, YUSUF
dc.contributor.authorSAATÇİ, ÇETİN
dc.contributor.authorKenanoglu, Sercan
dc.contributor.authorKARASU, NİLGÜN
dc.contributor.authorDundar, Bilge
dc.contributor.authorÖZÇELİK, FIRAT
dc.contributor.authorDEMİR, MİKAİL
dc.contributor.authorSiniksaran, Betul Seyhan
dc.contributor.authorKULAK ABAY, HANDE
dc.contributor.authorBAYSAL, KÜBRA
dc.contributor.authorKAZIMLI, ULVIYYA
dc.contributor.authorAKALIN, HİLAL
dc.contributor.authorDundar, Ayca
dc.contributor.authorBoz, Mehmet
dc.contributor.authorBayram, Arslan
dc.contributor.authorSUBAŞIOĞLU, Aslı
dc.contributor.authorÇOLAK, Fatma
dc.contributor.authorKARADUMAN, NESLİHAN
dc.contributor.authorGunes, Meltem Cerrah
dc.contributor.authorKANDEMİR, NEFİSE
dc.contributor.authorAynekin, Busra
dc.contributor.authorEmekli, Rabia
dc.contributor.authorSahin, Izem Olcay
dc.contributor.authorÖZDEMİR, Sevda Yeşim
dc.contributor.authorÖNAL, MÜGE GÜLCİHAN
dc.contributor.authorŞENEL, ABDURRAHMAN SONER
dc.contributor.authorPOYRAZOĞLU, MUAMMER HAKAN
dc.contributor.authorPAÇ KISAARSLAN, AYŞENUR
dc.contributor.authorGÜRSOY, ŞEBNEM
dc.contributor.authorBAŞKOL, MEVLÜT
dc.contributor.authorÇALIŞ, MUSTAFA
dc.contributor.authorDEMİR, HÜSEYİN
dc.contributor.authorZararsiz, Gozde Erturk
dc.contributor.authorÖZDEMİR ERDOĞAN, MÜJGAN
dc.contributor.authorElmas, Muhsin
dc.contributor.authorSolak, Mustafa
dc.contributor.authorUlu, Memnune Sena
dc.contributor.authorThahir, Adam
dc.contributor.authorAYDIN, ZAFER
dc.contributor.authorAtasever, Umut
dc.contributor.authorÖZEMRİ SAĞ, ŞEBNEM
dc.contributor.authorALIYEVA, LAMIYA
dc.contributor.authorALEMDAR, ADEM
dc.contributor.authorDOĞAN, BERKCAN
dc.contributor.authorErguzeloglu, Cemre Ornek
dc.contributor.authorKaya, Niyazi
dc.contributor.authorÖZKINAY, FERİŞTAH FERDA
dc.contributor.authorÇOĞULU, MUHSİN ÖZGÜR
dc.contributor.authorDURMAZ, ASUDE
dc.contributor.authorOnay, Huseyin
dc.contributor.authorKARACA, EMİN
dc.contributor.authorDurmaz, Burak
dc.contributor.authorAYKUT, AYÇA
dc.contributor.authorÇİLİNGİR, OĞUZ
dc.contributor.authorDURAK ARAS, BEYHAN
dc.contributor.authorERZURUMLUOĞLU GÖKALP, EBRU
dc.contributor.authorArslan, Serap
dc.contributor.authorTemena, Arda
dc.contributor.authorHaziyeva, Konul
dc.contributor.authorKOCAGİL, SİNEM
dc.contributor.authorBAŞ, HASAN
dc.contributor.authorSUSAM, EZGİ
dc.contributor.authorKEKLİKCİ, ALİ RIZA
dc.contributor.authorSarac, Elif
dc.contributor.authorKOÇAK, NADİR
dc.contributor.authorNERGİZ, SÜLEYMAN
dc.contributor.authorTERZİ, YUNUS KASIM
dc.contributor.authorDincer, Selin Akad
dc.contributor.authorBaskin, Esra Sidika
dc.contributor.authorGenc, Gunes Cakmak
dc.contributor.authorBAHADIR, Oğuzhan
dc.contributor.authorSanri, Aslihan
dc.contributor.authorYigit, Serbulent
dc.contributor.authorTOZKIR, HİLMİ
dc.contributor.authorYALÇINTEPE, SİNEM
dc.contributor.authorOzkayin, Nese
dc.contributor.authorKiraz, Aslihan
dc.contributor.authorBalta, Burhan
dc.contributor.authorGonen, Gizem Akinci
dc.contributor.authorKURT, EMİN EMRE
dc.contributor.authorGÜLEÇ CEYLAN, GÜLAY
dc.contributor.authorCEYLAN, AHMET CEVDET
dc.contributor.authorERTEN, ŞÜKRAN
dc.contributor.authorTUĞ BOZDOĞAN, SEVCAN
dc.contributor.authorBOĞA, İBRAHİM
dc.contributor.authorYILMAZ, MUSTAFA
dc.contributor.authorSILAN, FATMA
dc.contributor.authorKOCABEY, MEHMET
dc.contributor.authorKOÇ, ALTUĞ
dc.contributor.authorÇANKAYA, TUFAN
dc.contributor.authorBORA, ELÇİN
dc.contributor.authorGİRAY BOZKAYA, ÖZLEM
dc.contributor.authorErcal, Derya
dc.contributor.authorERGÜN, MEHMET ALİ
dc.contributor.authorErgun, Sezen Guntekin
dc.contributor.authorSIDAR DUMAN, YEŞİM
dc.contributor.authorBEYAZIT, ŞERİFE BÜŞRA
dc.contributor.authorUzel, Veysiye Hulya
dc.contributor.authorEM, SERDA
dc.contributor.authorÇEVİK, MUHAMMER ÖZGÜR
dc.contributor.authorEroz, Recep
dc.contributor.authorDemirtas, Mercan
dc.contributor.authorFIRAT, CEM KORAY
dc.contributor.authorKabayegit, Zehra Manav
dc.contributor.authorAltan, Mustafa
dc.contributor.authorMardan, Lamiya
dc.contributor.authorSayar, Ceyhan
dc.contributor.authorTumer, Sait
dc.contributor.authorTurkgenc, Burcu
dc.contributor.authorKarakoyun, Hilal Keskin
dc.contributor.authorTunc, Betul
dc.date.accessioned2022-02-18T10:59:34Z
dc.date.available2022-02-18T10:59:34Z
dc.identifier.citationDÜNDAR M., FAHRİOGLU U., Yildiz S. H. , Bakir-Gungor B., TEMEL Ş. G. , AKIN H., ARTAN S., Cora T., ŞAHİN F. İ. , DURSUN A., et al., "Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium", FUNCTIONAL & INTEGRATIVE GENOMICS, 2022
dc.identifier.issn1438-793X
dc.identifier.othervv_1032021
dc.identifier.otherav_cd169be6-fe9e-4955-9f97-fb13b3622339
dc.identifier.urihttp://hdl.handle.net/20.500.12627/180292
dc.identifier.urihttps://doi.org/10.1007/s10142-021-00819-3
dc.description.abstractFamilial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectHealth Sciences
dc.subjectLife Sciences
dc.subjectGenetics (clinical)
dc.subjectMolecular Biology
dc.subjectGenetics
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.titleClinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
dc.typeMakale
dc.relation.journalFUNCTIONAL & INTEGRATIVE GENOMICS
dc.contributor.departmentPamukkale Üniversitesi , ,
dc.contributor.firstauthorID3390215


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