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2. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Author

ERTEN, ŞÜKRAN, DÜNDAR, MUNİS, Altinay, Mert, Bakir-Gungor, Burcu, TEMEL, ŞEHİME GÜLSÜN, AKIN, HALUK, ARTAN, SEVİLHAN, Acar, Aynur, Cora, Tulin, ŞAHİN, FERİDE İFFET, DURSUN, AHMET, Sezer, Ozlem, GÜRKAN, HAKAN, Erdogan, Murat, Kebudi, Rejin, ÇİLİNGİR, OĞUZ, AYKUT, AYÇA, Durmaz, Burak, EMMUNGİL, HAKAN, KARACA, EMİN, Emekli, Rabia, Gonen, Gizem Akinci, Onay, Huseyin, DURMAZ, ASUDE, Balta, Burhan, Aynekin, Busra, KANDEMİR, NEFİSE, Kiraz, Aslihan, ÇOĞULU, MUHSİN ÖZGÜR, Gunes, Meltem Cerrah, KARADUMAN, NESLİHAN, Ozkayin, Nese, ÖZKINAY, FERİŞTAH FERDA, YALÇINTEPE, SİNEM, ÇOLAK, Fatma, SUBAŞIOĞLU, Aslı, Haziyeva, Konul, Bayramicli, Oya Uygur, Bilge, Ilmay, Kaya, Niyazi, Bayram, Arslan, Erguzeloglu, Cemre Ornek, KAVUKÇU, SALİH, DOĞAN, BERKCAN, Tuncel, Gulten, Mocan, Gamze, Kale, Hamdi, Gurakan, Figen, Uyguner, Zehra Oya, Tunc, Betul, Kuru, Seda, Boz, Mehmet, Dundar, Ayca, AKALIN, HİLAL, KAZIMLI, ULVIYYA, Zeybel, Mujdat, BAYSAL, KÜBRA, Zamani, Aysegul, GEÇKİNLİ, BİLGEN BİLGE, Uzel, Veysiye Hulya, DURAK ARAS, BEYHAN, Kiranatlioglu, Kubra, Ates, Esra Arslan, KULAK ABAY, HANDE, COŞKUN, MERT, EM, SERDA, ALTIOK CLARK, ÖZDEN, TOYLU, ASLI, TOZKIR, HİLMİ, Komesli, Zeynep, KOCAGİL, SİNEM, ÇEVİK, MUHAMMER ÖZGÜR, Eroz, Recep, Demirtas, Mercan, FIRAT, CEM KORAY, ERGÜN, MEHMET ALİ, YÜCE KAHRAMAN, Çiğdem, Yigit, Serbulent, Sanri, Aslihan, Siniksaran, Betul Seyhan, DEMİR, MİKAİL, ÖZÇELİK, FIRAT, Dundar, Bilge, BAŞ, HASAN, SUSAM, EZGİ, Karakoyun, Hilal Keskin, KARASU, NİLGÜN, Kenanoglu, Sercan, SAATÇİ, ÇETİN, ÖZKUL, YUSUF, Temena, Arda, Yuksel, Berrin, ÇAĞLAYAN, AHMET OKAY, BAHADIR, Oğuzhan, Genc, Gunes Cakmak, KEKLİKCİ, ALİ RIZA, Altunoglu, Umut, Sarac, Elif, Baskin, Esra Sidika, TOSUN, ÖZGÜR, Tulay, Pinar, Kabayegit, Zehra Manav, Altan, Mustafa, Mardan, Lamiya, Sayar, Ceyhan, ERZURUMLUOĞLU GÖKALP, EBRU, ÇETİN, GÖKHAN OZAN, Turkgenc, Burcu, Arslan, Serap, Tumer, Sait, NUR, BANU, Ergoren, Mahmut Cerkez, Onder, Nerin Bahceciler, KOÇAK, NADİR, Tasdemir, Mehmet, NERGİZ, SÜLEYMAN, Beyitler, Ilke, KUTLAY, NÜKET, TUNCALI, TİMUR, BEYAZIT, ŞERİFE BÜŞRA, SEMERCİ GÜNDÜZ, CAVİDAN NUR, SIDAR DUMAN, YEŞİM, Ergun, Sezen Guntekin, Ercal, Derya, ALEMDAR, ADEM, ALIYEVA, LAMIYA, ÖZEMRİ SAĞ, ŞEBNEM, Atasever, Umut, AYDIN, ZAFER, Thahir, Adam, TATAR, Abdulgani, ILGIN RUHİ, HATİCE, TERZİ, YUNUS KASIM, BİŞGİN, ATIL, Dincer, Selin Akad, ÖZDEMİR, ÖZTÜRK, ÜLGENALP, AYFER, PERÇİN, FERDA EMRİYE, YILDIRIM, MALİK EJDER, Ulu, Memnune Sena, Solak, Mustafa, Elmas, Muhsin, ÖZDEMİR ERDOĞAN, MÜJGAN, Zararsiz, Gozde Erturk, DEMİR, HÜSEYİN, ÇALIŞ, MUSTAFA, BAŞKOL, MEVLÜT, Aymelek, Huri Sema, ALTINTAŞ, ZUHAL, Eraslan, Serpil, KURT, EMİN EMRE, Erdem, Levent, FAHRİOGLU, UMUT, GÜLEÇ CEYLAN, GÜLAY, Sahin, Izem Olcay, CEYLAN, AHMET CEVDET, TUĞ BOZDOĞAN, SEVCAN, BOĞA, İBRAHİM, Yildiz, Saliha Handan, KARABULUT, HALİL GÜRHAN, YILMAZ, MUSTAFA, TEKEŞ, SELAHADDİN, SILAN, FATMA, KOCABEY, MEHMET, KOÇ, ALTUĞ, ÇANKAYA, TUFAN, BAĞIŞ, HAYDAR, BORA, ELÇİN, GİRAY BOZKAYA, ÖZLEM, ÖZDEMİR, Sevda Yeşim, ÖNAL, MÜGE GÜLCİHAN, ŞENEL, ABDURRAHMAN SONER, POYRAZOĞLU, MUAMMER HAKAN, PAÇ KISAARSLAN, AYŞENUR, GÜRSOY, ŞEBNEM, YÜCE, HÜSEYİN, DUMAN, NİLGÜN, BOZKURT, GÖKAY, Yararbas, Kanay, YILDIRIM, MAHMUT SELMAN, ARMAN, AHMET, MIHÇI, ERCAN, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı, Tekeş, Selahaddin, Üzel, Veysiye Hülya, Em, Serda, and 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.

Subjects
GENETİK VE KALITIM, Genotype, Turkey, PROTEIN ASC, MEFV, Life Sciences (LIFE), Molecular Biology and Genetics, KAPPA-B, Genotype-phenotype correlations, Sağlık Bilimleri, Familial Mediterranean fever, National Genetics Consortium, AUTOINFLAMMATION, ACTIVATION, Tıbbi Genetik, Yaşam Bilimleri, Health Sciences, Genetics, Humans, PYRIN, GENETICS & HEREDITY, Molecular Biology, Moleküler Biyoloji ve Genetik, Genetics (clinical), ASSOCIATIONS, Internal Medicine Sciences, MUTATIONS, Temel Bilimler, Life Sciences, General Medicine, Dahili Tıp Bilimleri, Tıp, PREVALENCE, MOLECULAR BIOLOGY & GENETICS, Genetics, Population, Phenotype, Yaşam Bilimleri (LIFE), AMYLOIDOSIS, Mutation, Medicine, Natural Sciences, Medical Genetics
Abstract

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.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.

Published
2022

3. Crimean-Congo Hemorrhagic Fever Mimicking Multisystem Inflammatory Syndrome in Children Associated With COVID-19: A Diagnostic Challenge

Author

ÖZKINAY, FERİŞTAH FERDA, Ozenen, Gizem Guner, Bilen, Nimet Melis, Bal, Zumrut Sahbudak, KURUGÖL, NURİ ZAFER, Aydemir, Sohret, and Arslan, Sema Yildirim

Subjects
Microbiology (medical), Crimean–Congo hemorrhagic fever, 2019-20 coronavirus outbreak, Infectious Diseases, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pediatrics, Perinatology and Child Health, medicine, medicine.disease, business, Letters to the Editor, Virology
Abstract

[No Abstract Available]

Published
2021

10. Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations. May 27–30, 2017, Copenhagen, Denmark

Author

ABACI, AYHAN, ÖZKINAY, FERİŞTAH FERDA, IŞIK, ESRA, GÖKŞEN ŞİMŞEK, RUHSAR DAMLA, AYKUT, AYÇA, KARACA, EMİN, ÖZEN, SAMİM, BOLAT, HİLMİ, ATİK, TAHİR, SAYGILI, LÜTFİYE FÜSUN, KARTAL, E, GUL, U, ANIK, AHMET, TÜTÜNCÜLER, FİLİZ, EREN, ERDAL, Özbek, Mehmet Nuri, KIREL, BİRGÜL, ERSOY, BETÜL, BÜYÜKİNAN, MUAMMER, KARA, CENGİZ, ÇAKIR, ESRA PAPATYA, YILDIRIM, RUKEN, İŞGÜVEN, ŞÜKRİYE PINAR, DAĞDEVİREN, A, AGLADIOGLU, SEBAHAT YILMAZ, DOĞAN, MURAT, SANGÜN, ÖZLEM, ARSLANOĞLU, İLKNUR, Korkmaz, Hüseyin Anıl, TEMİZ, FATİH, ONAY, HÜSEYİN, and BÖBER, ECE

Published
2018

12. Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları

Author

CEYLAN, EMİNE İPEK, ECE SOLMAZ, ASLI, ONAY, HÜSEYİN, AYKUT, AYÇA, DURMAZ, ASUDE, YEŞİL, GÖZDE, HAZAN, FİLİZ, KİRAZ, ASLIHAN, TÜYSÜZ, BEYHAN, GÜNEŞ, MELTEM CERRAH, MUTLU ALBAYRAK, HATİCE, SANRI, ASLIHAN, ÖZKINAY, FERİŞTAH FERDA, and YEŞİL, Gözde

Subjects
CEYLAN E. İ. , ECE SOLMAZ A., ONAY H., AYKUT A., DURMAZ A., YEŞİL G., HAZAN F., KİRAZ A., TÜYSÜZ B., GÜNEŞ M. C. , et al., -Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları-, 2. Ege Endokrin Hastalıkları ve Genetik Sempozyum, Türkiye, 23 - 25 February 2017
Published
2017

13. MODY Sendromlarından Sorumlu GCK, HNF1A VE HNF1B Genleri Mutasyon Spektrumu ve 40 Yeni Mutasyon

Author

ABACI, AYHAN, BÖBER, ECE, ONAY, HÜSEYİN, TEMİZ, FATİH, Korkmaz, Hüseyin Anıl, ARSLANOĞLU, İLKNUR, SANGÜN, ÖZLEM, DOĞAN, MURAT, AĞLADIOĞLU, SEBAHAT YILMAZ, İŞGÜVEN, ŞÜKRİYE PINAR, YILDIRIM, RUKEN, ÇAKIR, ESRA PAPATYA, KARA, CENGİZ, ÇETİNKALP, ŞEVKİ, BÜYÜKİNAN, MUAMMER, ERSOY, BETÜL, KIREL, BİRGÜL, Özbek, Mehmet Nuri, EREN, ERDAL, TÜTÜNCÜLER, FİLİZ, ANIK, AHMET, ÜLKÜ, GÜL, KARTAL, EMİNE, SAYGILI, FİSUN, ATİK, TAHİR, BOLAT, HİLMİ, ÖZEN, SAMİM, KARACA, EMİN, AYKUT, AYÇA, GÖKŞEN ŞİMŞEK, RUHSAR DAMLA, IŞIK, ESRA, and ÖZKINAY, FERİŞTAH FERDA

Published
2017

14. Tıbbi Genetik Laboratuar ve Klinik

Author

HAZAN, FİLİZ, AKGÜN, BİLÇAĞ, AŞIKOVALI, SEMİH, ATASEVEN KULALI, MELİKE, ATİK, TAHİR, ÇOĞULU, MUHSİN ÖZGÜR, SOLMAZ, ASLE ECE, KAVASOĞLU, AYŞE NUR, ÖZEN, SAMİM, ÖZKINAY, FERİŞTAH FERDA, GİRAY BOZKAYA, ÖZLEM, and GÜRSOY, SEMRA

Published
2017

25. Indications for referral of Turner's syndrome cases diagnosed prenatally

Author

Kanit, H., Ercal, D., Yilmaz, Berna, Ozkinay, C., ÖZKINAY, FERİŞTAH FERDA, SAĞOL, SERMET, and Kirayoglu, H.

Abstract

We performed a retrospective study of 17 Turner's syndrome (TS) cases who were diagnosed prenatally in our Genetic Diagnostic Centre, Alsancak-Izmir, Turkey, during the period 2000-2005. The indications for prenatal diagnosis, ultra-sonographic findings and demographic data of the mothers were evaluated from patient records. The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17). Other indications were advanced maternal age, abnormal triple test [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (Estriol)] levels in the diagnosis of Down's syndrome and fetal growth retardation. A 45,X non-mosaic karyotype (14/17) was detected in 14 of these cases, while three showed mosaicism with the following karyotypes: 45,XO/46,XX, 45,XO/46,XY and 45,XO/46,X,del (X)(q21;qter), respectively.

Published
2005

27. Kemik ve Eklem Enfeksiyon Tanılı Çocuk Hastaların Retrospektif Olarak Değerlendirilmesi.

Author

Arslan, Sema Yıldırım, Bal, Zümrüt Şahbudak, Özenen, Gizem Güner, Bilen, Nimet Melis, Özkinay, Feriştah Ferda, Günay, Hüseyin, Tamsel, İpek, and Kurugöl, Nuri Zafer

Abstract

Copyright of Mediterranean Journal of Infection, Microbes & Antimicrobials is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021

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