Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Identification of ALX3 Gene Promoter Hypermethylation as a Potential Biomarker for Lung Cancer.

Kartaloglu E. B., Oztepe M., Akgun O., Acun T., Ari F., Uz-Yildirim E.
Anticancer research , cilt.43, sa.7, ss.3029-3036, 2023 (SCI-Expanded) identifier identifier identifier

Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

Pirim D., Kaya N., Yıldırım E., Sag S., Temel Ş. G.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , cilt.162, ss.1166-1177, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Intracerebroventricularly injected nesfatin-1 activates central cyclooxygenase and lipoxygenase pathways

Guvenc-Bayram G., Altinbas B., Iqbal A., Cerci E., Udum D., Yılmaz M. S., et al.
AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL , cilt.226, 2020 (SCI-Expanded) identifier identifier identifier

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Cetinkaya A., Xiong J. R., VARGEL İ., KÖSEMEHMETOĞLU K., Canter H. I., Gerdan O. F., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.2, ss.299-317, 2016 (SCI-Expanded) identifier identifier identifier

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

OSKAY HALAÇLI S., ÇAĞDAŞ AYVAZ D. N., TAN Ç., ERMAN B., UZ YILDIRIM E., YÜCEL YILMAZ D., et al.
CLINICAL IMMUNOLOGY , cilt.161, sa.2, ss.316-323, 2015 (SCI-Expanded) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

ALANAY Y., Erguner B., Utine E., Hacariz O., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.2, ss.291-304, 2014 (SCI-Expanded) identifier identifier identifier

Mutations in the interleukin receptor IL11RA cause autosomal recessive crouzon-like craniosynostosis

Keupp K., Li Y., Vargel I., Hoischen A., Richardson R., Neveling K., et al.
Molecular Genetics and Genomic Medicine , cilt.1, sa.4, ss.223-237, 2013 (SCI-Expanded) identifier identifier identifier

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Bonnard C., Strobl A., Shboul M., Lee H., Merriman B., Nelson S., et al.
Nature genetics , cilt.44, ss.709-13, 2012 (SCI-Expanded) identifier identifier identifier

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Putoux A., Thomas S., Coene K., Davis E., Alanay Y., Ogur G., et al.
Nature genetics , cilt.43, ss.601-6, 2011 (SCI-Expanded) identifier identifier identifier

Agranulocytosis related to clozapine in monozygotic twins and association with allelic variants of multidrug resistance gene MDR1.

Anıl Y., İlhan B., Göktaş M., Babaoğlu M., Uz E., Yazıcı M.
Journal of clinical psychopharmacology , cilt.31, ss.247-9, 2011 (SCI-Expanded) identifier identifier identifier

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Uz E., Alanay Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., et al.
American journal of human genetics , cilt.86, ss.789-96, 2010 (SCI-Expanded) identifier identifier identifier

ALX4 dysfunction disrupts craniofacial and epidermal development.

Kayserili H., Uz E., Niessen C., Vargel I., Alanay Y., Tuncbilek G., et al.
Human molecular genetics , cilt.18, ss.4357-66, 2009 (SCI-Expanded) identifier identifier identifier

Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis.

Uz E., Mustafa C., Topaloglu R., Bilginer Y., Dursun A., Kasapcopur O., et al.
Arthritis and rheumatism , cilt.60, ss.3410-2, 2009 (SCI-Expanded) identifier identifier identifier

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases.

Chabchoub G., Uz E., Maalej A., Mustafa C., Rebai A., Mnif M., et al.
Arthritis research & therapy , cilt.11, 2009 (SCI-Expanded) identifier identifier identifier

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses.

Plagnol V., Uz E., Wallace C., Stevens H., Clayton D., Ozcelik T., et al.
PloS one , cilt.3, 2008 (SCI-Expanded) identifier identifier identifier

Skewed X-chromosome inactivation in scleroderma.

Uz E., Loubiere L., Gadi V., Ozbalkan Z., Stewart J., Nelson J., et al.
Clinical reviews in allergy & immunology , cilt.34, ss.352-5, 2008 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Ozcelik T., Akarsu N., Uz E., Caglayan S., Gulsuner S., Onat O., et al.
Proceedings of the National Academy of Sciences of the United States of America , cilt.105, ss.4232-6, 2008 (SCI-Expanded) identifier identifier identifier

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

Kaplan Y., Vargel I., Kansu T., Akin B., Rohmann E., Kamaci S., et al.
The British journal of ophthalmology , cilt.92, ss.135-41, 2008 (SCI-Expanded) identifier identifier identifier

Extremely skewed X-chromosome inactivation is increased in pre-eclampsia.

Uz E., Dolen I., Al A., Ozcelik T.
Human genetics , cilt.121, ss.101-5, 2007 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.

Ozcelik T., Uz E., Akyerli C., Bagislar S., Mustafa C., Gursoy A., et al.
European journal of human genetics : EJHG , cilt.14, ss.791-7, 2006 (SCI-Expanded) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses

PİRİM D., ULUSOY E., KURT Z., KAYA N., UZ YILDIRIM E.
Düzce Üniversitesi Bilim ve Teknoloji Dergisi , cilt.7, sa.3, ss.1931-1946, 2019 (Hakemli Dergi)

Genetic Relationship of Wild Einkorn Based on Geographical Distribution in Anatolia and Thrace using AFLP Markers

UZ E., ERSOY F., HAKKI E. E., AKKAYA M.
Journal of Applied Biological Sciences , cilt.3, sa.2, ss.21-26, 2009 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

TİP 3 HEREDİTER ANJİOÖDEM TANILI AİLENİN FAKTÖR 12 GENİNDE C1681-7G>A VARYANTININ FONKSİYONEL ÇALIŞMASI

Demirbağ Karaali M., Pantır Retzep S., UZ YILDIRIM E., KARALI Y., KARALI Z., ÇEKİÇ Ş.
20. Uludağ Pediatri Kış Kongresi, 05 Mart 2024

Assessment of Single Nucleotide Variants in hGPRC5A gene using in silico Tools

Demirbağ Karaali M., UZ YILDIRIM E., ÇELİKLER KASIMOĞULLARI S.
2nd International Multidisciplinary Cancer Research Congress, Giresun, Türkiye, 21 Temmuz 2022

Hypermethylation of ALX3 gene promoter is a novel biomarker candidate in lung cancer

Kartaloğlu E. B., Öztepe M., Akgün O., Acun T., Arı F., Uz Yıldırım E.
4th International Eurasian Conference on Biological and Chemical Sciences (EurasianBioChem 2021) , Ankara, Türkiye, 24 - 26 Kasım 2021, ss.224 Sürdürülebilir Kalkınma

Comprehensive Bioinformatic Analyses Of BRCA1/2 Variants Identified in Individuals With Personal and/or Family Hıstory of BRCA-Related Cancers

PİRİM D., kaya n., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Türkiye, 9 - 11 Ocak 2020 Sürdürülebilir Kalkınma

Next generation sequencing-based gene panel tests for the diagnosis of hereditary cancers

ZEYBEK S., ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., et al.
American Society of Human Genetics 69th Annual Meeting, Houston, Amerika Birleşik Devletleri, 15 - 19 Ekim 2019 Sürdürülebilir Kalkınma

Evaluation of ALX homeobox gene variants using in silico tools

ÖZTEPE M., KOÇ M., KARTALOĞLU E. B., UZ YILDIRIM E.
7th International Congress ofthe Molecular Biology Association of Turkey, 27 - 29 Eylül 2019, ss.74

Targeted gene panel sequencing for hereditary kidney diseases: efficiently detects candidate pathogenic variants related with these disorders

kaya n., ALKAYA A., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.
Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Türkiye, 21 - 23 Şubat 2019

Targeted gene panel sequencing for hereditary Cancers: Diagnostic Efficiency

TEMEL Ş. G., ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., et al.
13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019 Sürdürülebilir Kalkınma

Molecular diagnosis of connective tissue disorders using targeted gene panel screening

KABLAN A., kaya n., Aliyeva L., PİRİM D., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., et al.
13th Balkan Congress of Human Genetics, Edirne, Edirne, Türkiye, 17 - 20 Nisan 2019

Diagnostic efficiency of multiple gene panel in cardiomyopathy and hereditary arrhythmias

ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.
13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019

Genetic evaluation of the CFTR gene and comprehensive analysis of the sequence

Yılmaz E. B., kaya n., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.
13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019

Identification of BRCA1/2 Variants via Next Generation Sequencing for Therapeutic Approach

Özemri Sağ Ş., Kaya N., Alıyeva L., Kablan A., Örnek C., Doğan B., et al.
13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019

Osteogenezis imperfekta ön tanılı hastaların hedefe yönelik gen paneli kullanilarak yeni nesil tekniği ile dizilenmesi

Aliyeva L., kaya n., KABLAN A., PİRİM D., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., et al.
3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 7 - 09 Mart 2019

Identification and analysis of novel variants associated with breast and ovarian cancer in BRCA1 and BRCA2 Genes

Aliyeva L., kaya n., kurt z., KABLAN A., ÖZEMRİ SAĞ Ş., PİRİM D., et al.
13. Ulusal Tıbbi Genetik Kongresi Antalya, Antalya, Türkiye, 7 - 11 Kasım 2018 Sürdürülebilir Kalkınma

Screening of common and novel variants in the MEFV Gene in patients with familial mediterranean fever (FMF) symptoms by using next generation sequencing

kaya n., kurt z., Aliyeva L., KABLAN A., ÖZEMRİ SAĞ Ş., UZ YILDIRIM E., et al.
13. Ulusal Tıbbi Genetik Kongresi, Antalya, 2018, Antalya, Türkiye, 7 - 11 Kasım 2018

Treatment of collagen-induced arthritis mice model with genetically modified tolerogenic dendritic cells

yilmaz i., karaçay m., güvenç g., UZ YILDIRIM E., budak f., ERSOY F., et al.
5th European Congress of Immunology, 2 - 05 Eylül 2018

Downregulation of CD80/86 expression on the surface of Mouse bone marrow derived dendritic cells via CTLA4 expression in endoplasmic reticulum.

karaçay m., yılmaz i., güvenç g., UZ E., budak f., ERSOY F., et al.
World Immune regulation meeting XII, 14 - 17 Mart 2018

Silencing of CD80and CD86 expression on the surface of RAW 264.7 cells via CRISPR/Cas9.

ardahanlı e., aras m., özkazanç d., UZ E., budak f., ERSOY F., et al.
World Immune regulation meeting XII, 14 - 17 Mart 2018

Comparison of the Expression of GLUT-1 (SLC2A1) and GLUT-3 (SLC2A3) Genes and Their Targeted miRNAs in Human Breast Cancer Cell Lines

Dundar B., UZ E.
5th International Congress of the Molecular Biology Association of Turkey, 8 - 10 Eylül 2017 Sürdürülebilir Kalkınma

Downregulation of CD80/86 expression on the surface of RAW 264.7 cells via intracellular CTLA4.

Karaçay M., Yılmaz İ., UZ E., BUDAK F., ERSOY F., ORAL H. B.
11th World Immune Regulation Meeting (WIRM 2017), 15 - 18 Mart 2017

Preliminary results of genetic divergence among marine and freshwater populations of Atherina boyeri Risso 1810 in Turkey

GENÇOĞLU L., UZ E., KIRANKAYA Ş. G., EKMEKÇİ F. G.
FINS II-Freshwater Invasives Networking for Strategy Conference, Zagreb, Hırvatistan, 11 - 14 Temmuz 2016

Moleküler markörlerin Türkiye buğdaylarında genetik ilişki çalışmalarında kullanılması Mikrosatelit Markörü Geliştirilmesinin yeni bir yöntemi ve hastalığa dayanıklılık genlerinin araştırılması

AKKAYA M., HAKKI E. E., bilgiç h., BÜYÜKÜNAL E. B., ERSOY F., UZ E., et al.
12. Biyoteknoloji Kongresi, Balıkesir, Türkiye, 17 - 21 Eylül 2001

A novel isolation method OF SSRs NO CLONING NO SCREENING

AKKAYA M., HAKKI E. E., ERSOY F., UZ E.
International Plant Animal Genome IX Conference, San Diego, Amerika Birleşik Devletleri, 13 - 17 Ocak 2001

Metrikler

Yayın

45

Atıf (WoS)

925

H-İndeks (WoS)

15

Atıf (Scopus)

974

H-İndeks (Scopus)

15

Proje

11

Tez Danışmanlığı

5

Açık Erişim

4
BM Sürdürülebilir Kalkınma Amaçları