Metrikler
Yayın
23
Açık Erişim
5
BM Sürdürülebilir Kalkınma Amaçları
Eğitim Bilgileri
2014 - 2018
2014 - 2018Tıpta Uzmanlık
Ankara Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Türkiye
2006 - 2013
2006 - 2013Lisans
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Tıp Fakültesi, Türkiye
Yaptığı Tezler
2018
2018Tıpta Uzmanlık
Şizofreni hastalarında RASD1 geni mutasyonlarının araştırılması
Ankara Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
Araştırma Alanları
Sağlık Bilimleri
Akademi Dışı Deneyim
2018 - 2018
2018 - 2018Visitor Scientist
Wellcome Trust Sanger Institute, Visitor Scientist
Makaleler
Tümü (20)
SCI-E, SSCI, AHCI (20)
SCI-E, SSCI, AHCI, ESCI (20)
Scopus (19)
TRDizin (1)
2025
20251. Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis
KURT C. E., Aksu-Menges E., Kumtepe E. T., DURMAZ ÖZDİNÇ C. D., Terzi Y. K., ERGÜL ÜLGER Z., et al.
BMC NEUROLOGY
, cilt.25, sa.1, 2025 (SCI-Expanded, Scopus)
2024
20242. Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect
DURMAZ ÖZDİNÇ C. D., GÜMRÜK F., Celkan T., Unal S., ÇETİNKAYA A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, 2024 (SCI-Expanded, Scopus)
2024
20243. Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease
Bas H., DURMAZ ÖZDİNÇ C. D., Tombak M. C., ÇETİN G. O., Karaer K.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.194, sa.9, 2024 (SCI-Expanded, Scopus)
2023
20234. Novel nonsense CAST mutation in two siblings with PLACK syndrome
DURMAZ ÖZDİNÇ C. D., Tekmenuray-Unal A.
International Journal of Dermatology
, cilt.62, sa.10, ss.1295-1299, 2023 (SCI-Expanded, Scopus)
2022
20225. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)
Ili E. G., Tasdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded, Scopus)
2022
20226. Undifferentiated Melanoma Resembling Undifferentiated Round Cell Sarcoma: The Diagnostic Power of Molecular Melanoma Signature
KAVUNCUOĞLU A., DURMAZ ÖZDİNÇ C. D., GÖKÖZ Ö., ÜNER A., KÖSEMEHMETOĞLU K.
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
, cilt.30, sa.3, ss.346-349, 2022 (SCI-Expanded, Scopus)
2021
20217. Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency
Durmaz C. D., ALTINER Ş., Tasdelen E., KARABULUT H. G., ILGIN RUHİ H.
FETAL AND PEDIATRIC PATHOLOGY
, cilt.40, sa.5, ss.486-492, 2021 (SCI-Expanded, Scopus)
2021
20218. MASP1-related 3MC syndrome in a patient from Turkey
Durmaz C. D., Altiner S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.185, sa.7, ss.2267-2270, 2021 (SCI-Expanded, Scopus)
2020
20209. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(c.1957-2A > C) Mutation in the GLI2 Gene
Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., Ceylaner S., Ozbek M. N.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded, Scopus, TRDizin)
2020
202010. Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa
Ertop P., Vural S., Ili E. G., Durmaz C. D., HEPER A., McGrath J. A., et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY
, cilt.59, sa.7, ss.851-855, 2020 (SCI-Expanded, Scopus)
2019
201911. H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin
An I., Durmaz C. D., ILGIN RUHİ H., Ertop P., Ozturk M., Sula B., et al.
HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY
, cilt.27, sa.3, ss.137-140, 2019 (SCI-Expanded, Scopus)
2019
201912. Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study
VURAL S., Gundogdu M., Illi E. G., Durmaz C. D., Vural A., Steinmuller-Magin L., et al.
BRITISH JOURNAL OF DERMATOLOGY
, cilt.180, sa.6, ss.1459-1467, 2019 (SCI-Expanded, Scopus)
2019
201913. Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings
USLU YURTERİ E., Durmaz C. D., KARABULUT H. G., Seifert W., Horn D., AKKAYA Z., et al.
CYTOGENETIC AND GENOME RESEARCH
, cilt.158, sa.3, ss.126-132, 2019 (SCI-Expanded, Scopus)
2018
201814. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
White J. J., Mazzeu J. F., Coban-Akdemir Z., Bayram Y., Bahrambeigi V., Hoischen A., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.102, sa.1, ss.27-43, 2018 (SCI-Expanded, Scopus)
2018
201815. A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome
Durmaz C. D., Evans G., Smith M. J., Ertop P., AKAY B., TUNCALI T.
CYTOGENETIC AND GENOME RESEARCH
, cilt.154, sa.2, ss.57-61, 2018 (SCI-Expanded, Scopus)
2018
201816. A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report
Durmaz C. D., McGrath J., Liu L., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH
, cilt.154, sa.3, ss.119-121, 2018 (SCI-Expanded, Scopus)
2018
201817. Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature
Tasdelen E., Durmaz C. D., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH
, cilt.154, sa.4, ss.181-186, 2018 (SCI-Expanded, Scopus)
2017
201718. Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene
Vural S., Ertop P., Durmaz C. D., ŞANLI H., HEPER A., KUNDAKCI N., et al.
CYTOGENETIC AND GENOME RESEARCH
, cilt.151, sa.4, ss.186-190, 2017 (SCI-Expanded, Scopus)
2017
201719. Bilateral choanal atresia in an adult woman with pycnodysostosis
Durmaz C. D., Tas V., Kocaay P., FİTOZ Ö. S., Onay H., BETON S., et al.
CONGENITAL ANOMALIES
, cilt.57, sa.3, ss.91-92, 2017 (SCI-Expanded)
2016
201620. Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report
Durmaz C. D., Yararbas K., KUTLAY N., Turedi O., Akin I., Gurbuz C., et al.
CYTOGENETIC AND GENOME RESEARCH
, cilt.148, sa.1, ss.19-24, 2016 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2023
20231. Long overdue diagnosis for Turner syndrome: evaluation of two cases
ILGIN RUHİ H., Durmaz C. D., LEBLEBİCİ C. B., ALTINER Ş.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.245-246, (Özet Bildiri)
2023
20232. Comprehensive approach focusing on the molecular profile of a rare genodermatosis: Epidermodysplasia Verruciformis
ERKAN D. D., Akcin O., DURMAZ ÖZDİNÇ C. D., ATEŞ ÖZDEMİR D., GÜLERAY LAFCI N., DİZDAR Ö.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.397, (Özet Bildiri)
2019
20193. Pyrin mutations in complex hidradenitis suppurativa
Vural S., Gundogdu M., Ili E. G., Durmaz C. D., Vural A., Steinmueller-Magin L., et al.
Annual Meeting of the British-Society-for-Investigative-Dermatology, Bradford, İngiltere, 1 - 03 Nisan 2019, cilt.180, (Özet Bildiri)
Desteklenen Projeler
2022 - Devam Ediyor
2022 - Devam Ediyor
Mikrosatelit İnstabilitesi Olan Endometrium Kanserli Olguların Klinik Patolojik ve Genetik Verilerinin Değerlendirilmesi
Yükseköğretim Kurumları Destekli Proje , BAP Diğer
ÖZGÜL N. (Yürütücü), ATEŞ ÖZDEMİR D., USUBÜTÜN A., DURMAZ ÖZDİNÇ C. D., ÇELİK Ö.