dc.contributor.author | Kiranatlioglu, Kubra | |
dc.contributor.author | Kuru, Seda | |
dc.contributor.author | Zamani, Aysegul | |
dc.contributor.author | GEÇKİNLİ, BİLGEN BİLGE | |
dc.contributor.author | Ates, Esra Arslan | |
dc.contributor.author | ALTIOK CLARK, ÖZDEN | |
dc.contributor.author | TOYLU, ASLI | |
dc.contributor.author | COŞKUN, MERT | |
dc.contributor.author | NUR, BANU | |
dc.contributor.author | Bilge, Ilmay | |
dc.contributor.author | Bayramicli, Oya Uygur | |
dc.contributor.author | EMMUNGİL, HAKAN | |
dc.contributor.author | Komesli, Zeynep | |
dc.contributor.author | Zeybel, Mujdat | |
dc.contributor.author | Gurakan, Figen | |
dc.contributor.author | Tasdemir, Mehmet | |
dc.contributor.author | Kebudi, Rejin | |
dc.contributor.author | KARABULUT, HALİL GÜRHAN | |
dc.contributor.author | TUNCALI, TİMUR | |
dc.contributor.author | KUTLAY, NÜKET | |
dc.contributor.author | YÜCE KAHRAMAN, Çiğdem | |
dc.contributor.author | Onder, Nerin Bahceciler | |
dc.contributor.author | Beyitler, Ilke | |
dc.contributor.author | KAVUKÇU, SALİH | |
dc.contributor.author | Tulay, Pinar | |
dc.contributor.author | TOSUN, ÖZGÜR | |
dc.contributor.author | Tuncel, Gulten | |
dc.contributor.author | Mocan, Gamze | |
dc.contributor.author | Kale, Hamdi | |
dc.contributor.author | Uyguner, Zehra Oya | |
dc.contributor.author | Acar, Aynur | |
dc.contributor.author | Altinay, Mert | |
dc.contributor.author | Erdem, Levent | |
dc.contributor.author | ÇETİN, GÖKHAN OZAN | |
dc.contributor.author | DÜNDAR, MUNİS | |
dc.contributor.author | FAHRİOGLU, UMUT | |
dc.contributor.author | Yildiz, Saliha Handan | |
dc.contributor.author | Bakir-Gungor, Burcu | |
dc.contributor.author | Altunoglu, Umut | |
dc.contributor.author | TEMEL, ŞEHİME GÜLSÜN | |
dc.contributor.author | AKIN, HALUK | |
dc.contributor.author | ARTAN, SEVİLHAN | |
dc.contributor.author | Cora, Tulin | |
dc.contributor.author | ŞAHİN, FERİDE İFFET | |
dc.contributor.author | DURSUN, AHMET | |
dc.contributor.author | Sezer, Ozlem | |
dc.contributor.author | GÜRKAN, HAKAN | |
dc.contributor.author | Erdogan, Murat | |
dc.contributor.author | SEMERCİ GÜNDÜZ, CAVİDAN NUR | |
dc.contributor.author | BİŞGİN, ATIL | |
dc.contributor.author | ÖZDEMİR, ÖZTÜRK | |
dc.contributor.author | ÜLGENALP, AYFER | |
dc.contributor.author | PERÇİN, FERDA EMRİYE | |
dc.contributor.author | YILDIRIM, MALİK EJDER | |
dc.contributor.author | TEKEŞ, SELAHADDİN | |
dc.contributor.author | BAĞIŞ, HAYDAR | |
dc.contributor.author | YÜCE, HÜSEYİN | |
dc.contributor.author | DUMAN, NİLGÜN | |
dc.contributor.author | BOZKURT, GÖKAY | |
dc.contributor.author | Yararbas, Kanay | |
dc.contributor.author | YILDIRIM, MAHMUT SELMAN | |
dc.contributor.author | ARMAN, AHMET | |
dc.contributor.author | MIHÇI, ERCAN | |
dc.contributor.author | Eraslan, Serpil | |
dc.contributor.author | ALTINTAŞ, ZUHAL | |
dc.contributor.author | Aymelek, Huri Sema | |
dc.contributor.author | ILGIN RUHİ, HATİCE | |
dc.contributor.author | TATAR, Abdulgani | |
dc.contributor.author | Ergoren, Mahmut Cerkez | |
dc.contributor.author | ÇAĞLAYAN, AHMET OKAY | |
dc.contributor.author | Yuksel, Berrin | |
dc.contributor.author | ÖZKUL, YUSUF | |
dc.contributor.author | SAATÇİ, ÇETİN | |
dc.contributor.author | Kenanoglu, Sercan | |
dc.contributor.author | KARASU, NİLGÜN | |
dc.contributor.author | Dundar, Bilge | |
dc.contributor.author | ÖZÇELİK, FIRAT | |
dc.contributor.author | DEMİR, MİKAİL | |
dc.contributor.author | Siniksaran, Betul Seyhan | |
dc.contributor.author | KULAK ABAY, HANDE | |
dc.contributor.author | BAYSAL, KÜBRA | |
dc.contributor.author | KAZIMLI, ULVIYYA | |
dc.contributor.author | AKALIN, HİLAL | |
dc.contributor.author | Dundar, Ayca | |
dc.contributor.author | Boz, Mehmet | |
dc.contributor.author | Bayram, Arslan | |
dc.contributor.author | SUBAŞIOĞLU, Aslı | |
dc.contributor.author | ÇOLAK, Fatma | |
dc.contributor.author | KARADUMAN, NESLİHAN | |
dc.contributor.author | Gunes, Meltem Cerrah | |
dc.contributor.author | KANDEMİR, NEFİSE | |
dc.contributor.author | Aynekin, Busra | |
dc.contributor.author | Emekli, Rabia | |
dc.contributor.author | Sahin, Izem Olcay | |
dc.contributor.author | ÖZDEMİR, Sevda Yeşim | |
dc.contributor.author | ÖNAL, MÜGE GÜLCİHAN | |
dc.contributor.author | ŞENEL, ABDURRAHMAN SONER | |
dc.contributor.author | POYRAZOĞLU, MUAMMER HAKAN | |
dc.contributor.author | PAÇ KISAARSLAN, AYŞENUR | |
dc.contributor.author | GÜRSOY, ŞEBNEM | |
dc.contributor.author | BAŞKOL, MEVLÜT | |
dc.contributor.author | ÇALIŞ, MUSTAFA | |
dc.contributor.author | DEMİR, HÜSEYİN | |
dc.contributor.author | Zararsiz, Gozde Erturk | |
dc.contributor.author | ÖZDEMİR ERDOĞAN, MÜJGAN | |
dc.contributor.author | Elmas, Muhsin | |
dc.contributor.author | Solak, Mustafa | |
dc.contributor.author | Ulu, Memnune Sena | |
dc.contributor.author | Thahir, Adam | |
dc.contributor.author | AYDIN, ZAFER | |
dc.contributor.author | Atasever, Umut | |
dc.contributor.author | ÖZEMRİ SAĞ, ŞEBNEM | |
dc.contributor.author | ALIYEVA, LAMIYA | |
dc.contributor.author | ALEMDAR, ADEM | |
dc.contributor.author | DOĞAN, BERKCAN | |
dc.contributor.author | Erguzeloglu, Cemre Ornek | |
dc.contributor.author | Kaya, Niyazi | |
dc.contributor.author | ÖZKINAY, FERİŞTAH FERDA | |
dc.contributor.author | ÇOĞULU, MUHSİN ÖZGÜR | |
dc.contributor.author | DURMAZ, ASUDE | |
dc.contributor.author | Onay, Huseyin | |
dc.contributor.author | KARACA, EMİN | |
dc.contributor.author | Durmaz, Burak | |
dc.contributor.author | AYKUT, AYÇA | |
dc.contributor.author | ÇİLİNGİR, OĞUZ | |
dc.contributor.author | DURAK ARAS, BEYHAN | |
dc.contributor.author | ERZURUMLUOĞLU GÖKALP, EBRU | |
dc.contributor.author | Arslan, Serap | |
dc.contributor.author | Temena, Arda | |
dc.contributor.author | Haziyeva, Konul | |
dc.contributor.author | KOCAGİL, SİNEM | |
dc.contributor.author | BAŞ, HASAN | |
dc.contributor.author | SUSAM, EZGİ | |
dc.contributor.author | KEKLİKCİ, ALİ RIZA | |
dc.contributor.author | Sarac, Elif | |
dc.contributor.author | KOÇAK, NADİR | |
dc.contributor.author | NERGİZ, SÜLEYMAN | |
dc.contributor.author | TERZİ, YUNUS KASIM | |
dc.contributor.author | Dincer, Selin Akad | |
dc.contributor.author | Baskin, Esra Sidika | |
dc.contributor.author | Genc, Gunes Cakmak | |
dc.contributor.author | BAHADIR, Oğuzhan | |
dc.contributor.author | Sanri, Aslihan | |
dc.contributor.author | Yigit, Serbulent | |
dc.contributor.author | TOZKIR, HİLMİ | |
dc.contributor.author | YALÇINTEPE, SİNEM | |
dc.contributor.author | Ozkayin, Nese | |
dc.contributor.author | Kiraz, Aslihan | |
dc.contributor.author | Balta, Burhan | |
dc.contributor.author | Gonen, Gizem Akinci | |
dc.contributor.author | KURT, EMİN EMRE | |
dc.contributor.author | GÜLEÇ CEYLAN, GÜLAY | |
dc.contributor.author | CEYLAN, AHMET CEVDET | |
dc.contributor.author | ERTEN, ŞÜKRAN | |
dc.contributor.author | TUĞ BOZDOĞAN, SEVCAN | |
dc.contributor.author | BOĞA, İBRAHİM | |
dc.contributor.author | YILMAZ, MUSTAFA | |
dc.contributor.author | SILAN, FATMA | |
dc.contributor.author | KOCABEY, MEHMET | |
dc.contributor.author | KOÇ, ALTUĞ | |
dc.contributor.author | ÇANKAYA, TUFAN | |
dc.contributor.author | BORA, ELÇİN | |
dc.contributor.author | GİRAY BOZKAYA, ÖZLEM | |
dc.contributor.author | Ercal, Derya | |
dc.contributor.author | ERGÜN, MEHMET ALİ | |
dc.contributor.author | Ergun, Sezen Guntekin | |
dc.contributor.author | SIDAR DUMAN, YEŞİM | |
dc.contributor.author | BEYAZIT, ŞERİFE BÜŞRA | |
dc.contributor.author | Uzel, Veysiye Hulya | |
dc.contributor.author | EM, SERDA | |
dc.contributor.author | ÇEVİK, MUHAMMER ÖZGÜR | |
dc.contributor.author | Eroz, Recep | |
dc.contributor.author | Demirtas, Mercan | |
dc.contributor.author | FIRAT, CEM KORAY | |
dc.contributor.author | Kabayegit, Zehra Manav | |
dc.contributor.author | Altan, Mustafa | |
dc.contributor.author | Mardan, Lamiya | |
dc.contributor.author | Sayar, Ceyhan | |
dc.contributor.author | Tumer, Sait | |
dc.contributor.author | Turkgenc, Burcu | |
dc.contributor.author | Karakoyun, Hilal Keskin | |
dc.contributor.author | Tunc, Betul | |
dc.date.accessioned | 2022-02-18T10:59:34Z | |
dc.date.available | 2022-02-18T10:59:34Z | |
dc.identifier.citation | DÜNDAR 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.issn | 1438-793X | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_cd169be6-fe9e-4955-9f97-fb13b3622339 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/180292 | |
dc.identifier.uri | https://doi.org/10.1007/s10142-021-00819-3 | |
dc.description.abstract | Familial 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.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Health Sciences | |
dc.subject | Life Sciences | |
dc.subject | Genetics (clinical) | |
dc.subject | Molecular Biology | |
dc.subject | Genetics | |
dc.subject | Temel Bilimler | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.title | Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium | |
dc.type | Makale | |
dc.relation.journal | FUNCTIONAL & INTEGRATIVE GENOMICS | |
dc.contributor.department | Pamukkale Üniversitesi , , | |
dc.contributor.firstauthorID | 3390215 | |