Publications & Works

Publication Network

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

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, vol.162, pp.1166-1177, 2020 (Journal Indexed in SCI) Sustainable Development identifier identifier identifier

Intracerebroventricularly injected nesfatin-1 activates central cyclooxygenase and lipoxygenase pathways

Guvenc-Bayram G., Altinbas B., Iqbal A., Cerci E., UDUM D. , YILMAZ M. S. , et al.
AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL, vol.226, 2020 (Journal Indexed in SCI) 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, vol.99, no.2, pp.299-317, 2016 (Journal Indexed in SCI) 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, vol.161, no.2, pp.316-323, 2015 (Journal Indexed in SCI) 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, vol.164, no.2, pp.291-304, 2014 (Journal Indexed in SCI) 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, vol.44, pp.709-13, 2012 (Journal Indexed in SCI) 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, vol.43, pp.601-6, 2011 (Journal Indexed in SCI) 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, vol.31, pp.247-9, 2011 (Journal Indexed in SCI) 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, vol.86, pp.789-96, 2010 (Journal Indexed in SCI) 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, vol.18, pp.4357-66, 2009 (Journal Indexed in SCI) 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, vol.60, pp.3410-2, 2009 (Journal Indexed in SCI) 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, vol.11, 2009 (Journal Indexed in SCI) 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, vol.3, 2008 (Journal Indexed in SCI) 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, vol.34, pp.352-5, 2008 (Journal Indexed in SCI) Sustainable Development 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, vol.105, pp.4232-6, 2008 (Journal Indexed in SCI) 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, vol.92, pp.135-41, 2008 (Journal Indexed in SCI) identifier identifier identifier

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

Uz E. , Dolen I., Al A., Ozcelik T.
Human genetics, vol.121, pp.101-5, 2007 (Journal Indexed in SCI) Sustainable Development 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, vol.14, pp.791-7, 2006 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

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, vol.7, no.3, pp.1931-1946, 2019 (Other Refereed National Journals)

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, vol.1, no.4, pp.223-237, 2013 (Journal Indexed in ESCI) identifier identifier identifier

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, vol.3, no.2, pp.21-26, 2009 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

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, Turkey, 9 - 11 January 2020 Sustainable Development

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, United States Of America, 15 - 19 October 2019 Sustainable Development

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 September 2019, pp.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, Turkey, 21 - 23 February 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, Turkey, 17 - 20 April 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, Turkey, 17 - 20 April 2019

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, Turkey, 17 - 20 April 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, Turkey, 17 - 20 April 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, Turkey, 17 - 20 April 2019 Sustainable Development

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, Turkey, 7 - 09 March 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, Turkey, 7 - 11 November 2018 Sustainable Development

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, Turkey, 7 - 11 November 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 September 2018

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

YILMAZ İ., KARAÇAY M., GÜVENÇ G., UZ E. , BUDAK F. , ERSOY F., et al.
5th European Congress of Immunology, 2 - 05 September 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 March 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 March 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 September 2017 Sustainable Development

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 March 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, Croatia, 11 - 14 July 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, Turkey, 17 - 21 September 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, United States Of America, 13 - 17 January 2001