Doç. Dr. AYSEL KALAYCI

Yayın Ağı

Makaleler 47

1. Clinical utility of cell-free urine miR-93-5p, miR-191-5p, miR-31-5p for invasive urothelial carcinoma detection and immune signature-based subtyping

Özden S. B., Kalaycı A., Gürses İ., Özdemir F., Sertbudak İ., Kuzucu F., et al.

BMC UROLOGY , cilt.26, sa.1, 2026 (SCI-Expanded, Scopus)

2. Interaction between secondhand smoke exposure and IL-17 gene polymorphism in pediatric asthma

Oztosun B., Baskan A. K., Kalayci A., Ozceker D., SEVEN M., Cokugras H., et al.

JOURNAL OF ASTHMA , cilt.62, sa.11, ss.1950-1959, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

3. Co-occurrence of two rare syndromes with different pathogenetic mechanisms within the same family

Kalayci A., Tomac H., Agirbasli D.

FEBS OPEN BIO , cilt.15, ss.440-441, 2025 (SCI-Expanded, Scopus)

4. A reference genetic diagnosis center experience of individuals with gender dysphoria in Turkiye

Kalayci A., Agirbasli D., Ozen I., Ozdemir F., Ozen M.

FEBS OPEN BIO , cilt.15, ss.443-444, 2025 (SCI-Expanded, Scopus)

5. The first report of MEI4 biallelic variant in primary infertility: a familial case study

Agirbasli D., Ayaz A., Jurat F., Kalayci A.

FEBS OPEN BIO , cilt.15, ss.29, 2025 (SCI-Expanded, Scopus)

6. HMGA2 associated ceRNA-HOTAIR pathway in breast cancer patients from clinicopathological perspective.

Ercoşkun P., AĞIRBAŞLI D., VELİDEDEOĞLU M., SEVEN M., Kalayci A.

Turkish journal of medical sciences , cilt.55, sa.3, ss.782-791, 2025 (SCI-Expanded, Scopus, TRDizin)

7. Clinical and genetic evaluation of SLC3A1 and SLC7A9 gene variants in patients with cystinuria in Turkiye

Kirli E. A., Kalayci A., Onal B.

EUROPEAN UROLOGY , cilt.87, 2025 (SCI-Expanded, Scopus)

8. A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder

Kalaycı A., Ağırbaşlı D., Serdengecti N., Alay M. T., Tarakcioglu M. C., Seven M.

Psychiatric Genetics , cilt.34, sa.6, ss.134-139, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature

Koca O., Alay M. T., Murt A., Kalayci Yigin A., Seven M., Bavunoglu I.

CEN Case Reports , cilt.13, sa.5, ss.330-338, 2024 (ESCI, Scopus)

10. An Evaluation of DNA Methylation Levels and Sleep in Relation to Hot Flashes: A Cross-Sectional Study.

Ozcivit Erkan I. B., Seyisoglu H. H., Benbir Senel G., Karadeniz D., Ozdemir F., Kalayci A., et al.

Journal of clinical medicine , cilt.13, sa.12, 2024 (SCI-Expanded, Scopus)

11. **A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature**

HASTÜRK B. A., ÇINAR Ç., ZÜBARİOĞLU T., Tiryaki-Demir S., CANSEVER M. Ş., KIYKIM E., et al.

MOLECULAR SYNDROMOLOGY , cilt.15, sa.3, ss.232-239, 2024 (SCI-Expanded, Scopus)

12. A new perspective on isotretinoin in pregnancy: Pregnancy outcomes, evaluation of complex phenotypes, and importance of teratological counselling

Alay M. T., Kalayci A., Seven M.

European Journal of Obstetrics and Gynecology and Reproductive Biology , cilt.291, ss.148-155, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

13. Should chromosomal analysis be performed routinely during the baseline evaluation of the gender affirmation process? The outcomes of a large cohort of gender dysphoric individuals

KALAYCI YİĞİN A., TURAN Ş., ALAY M. T., KAVLA Y., DEMİREL Ö., SEVEN M.

INTERNATIONAL JOURNAL OF IMPOTENCE RESEARCH , cilt.35, sa.5, ss.472-477, 2023 (SCI-Expanded, Scopus)

14. HLA class I and class II polymorphism in mitral chordae tendineae rupture

VATAN M. B., KALAYCI YİĞİN A., AKDEMİR R., AĞAÇ M. T., Vatan A., KARACAN K.

KUWAIT MEDICAL JOURNAL , cilt.55, sa.2, ss.133-138, 2023 (SCI-Expanded, Scopus)

15. The First Case Report of 47,XXY/46,XX/46,XY Mosaic Klinefelter Syndrome Patient With Mixed Connective Tissue Disorder

KALAYCI YİĞİN A., Alay M. T., UĞURLU S., SEVEN M.

American Journal of Men's Health , cilt.17, sa.3, 2023 (SSCI, Scopus)

16. Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey

KAYMAK D., ALPAY TÜRK V., ALICI DAVUTOĞLU E., Elci O., KALAYCI YİĞİN A., TÜYSÜZ B., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.191, sa.2, ss.617-623, 2023 (SCI-Expanded, Scopus)

17. Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene

Kilicarslan O., BATU OTO B., Yetik H., AĞIRBAŞLI D., KALAYCI YİĞİN A., celik G.

OPHTHALMIC GENETICS , cilt.44, sa.5, ss.491-495, 2023 (SCI-Expanded, Scopus)

18. Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene

BATU OTO B., AĞIRBAŞLI D., KILIÇARSLAN O., Celik G., KALAYCI YİĞİN A., SEVEN M., et al.

OPHTHALMIC GENETICS , cilt.44, sa.1, ss.70-73, 2023 (SCI-Expanded, Scopus)

19. **Evaluation of the Effect of Delivery Mode on Methylation Changes in the Global DNA and the PTEN Gene**

YUVACI H. U., KALAYCI YİĞİN A., ASLAN M. M., ÖZDEMİR F., ÖZEL A., CEVRİOĞLU A. S., et al.

JOURNAL OF CLINICAL OBSTETRICS AND GYNECOLOGY , cilt.33, sa.2, ss.111-117, 2023 (ESCI, Scopus, TRDizin)

20. Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center Experience

agirbasli d., Erdogan G., Seven M., Kalayci Yigin A.

Genel Tıp Dergisi , cilt.32, sa.6, ss.737-739, 2022 (TRDizin)

21. Determination of cytokine profile and associated genes of the signaling pathway in HNSCC.

Kalayci Yigin A., Azzawri A., Ozturk K., Cora T., Seven M.

Journal of receptor and signal transduction research , cilt.42, sa.5, ss.462-468, 2022 (SCI-Expanded, Scopus)

22. Radiation exposure in pregnancy: outcomes, perceptions and teratological counseling in Turkish women

Seven M., Yigin A., Agirbasli D., Alay M. T., Kirbiyik F., Demir M.

ANNALS OF SAUDI MEDICINE , cilt.42, sa.3, ss.214-221, 2022 (SCI-Expanded, Scopus)

23. Evaluation of IL1B rs1143634 and IL6 rs1800796 Polymorphisms with Autism Spectrum Disorder in the Turkish Children

Pekkoc Uyanik K. C., Kalayci Yigin A., Dogangun B., Seven M.

IMMUNOLOGICAL INVESTIGATIONS , cilt.51, sa.4, ss.766-777, 2022 (SCI-Expanded, Scopus)

24. 47,XXY/46,XX/46,XY mosaic Klinefelter Syndrome accompanied by mixed connective tissue disorder: A very rare case

KALAYCI YİĞİN A., ALAY M. T., AĞIRBAŞLI D., SEVEN M.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.448-449, 2022 (SCI-Expanded, Scopus)

25. Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

KALAYCI YİĞİN A., Duz M. B., SEVEN M.

GLOBAL MEDICAL GENETICS , cilt.09, sa.01, ss.23-28, 2022 (ESCI)

26. Co-existing bipolar disease and 17q12 deletion: a rare case report

Bulu E., Kalayci Yigin A., Agirbasli D., Demirel Ö. F., Aksoy Poyraz C., Seven M.

PSYCHIATRIC GENETICS , cilt.32, sa.1, ss.30-33, 2022 (SCI-Expanded, Scopus)

27. The effect of medicarpin on PTEN/AKT signal pathway in head and neck squamous cell carcinoma.

Yiğin A. K., Donmez H., Hitit M., Seven S., Eser N., Kurar E., et al.

Journal of cancer research and therapeutics , cilt.18, sa.1, ss.180-184, 2022 (SCI-Expanded, Scopus)

28. Ameliorative effects of garlic oil on FNDC5 and irisin sensitivity in liver of streptozotocin-induced diabetic rats

Eser N., Yoldas A., Turk A., Yigin A., Yalcin A., Cicek M.

JOURNAL OF PHARMACY AND PHARMACOLOGY , cilt.73, sa.6, ss.824-834, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

29. Fetal Outcomes of Anti-epileptic Drug Use in Pregnancy: Teratologic Approach

KALAYCI YİĞİN A., ALAY M. T., SEVEN M.

TURKISH JOURNAL OF NEUROLOGY , cilt.27, sa.1, ss.27-33, 2021 (ESCI, Scopus, TRDizin)

30. Evaluation of clinical and laboratory findings of patients with klinefelter syndrome: Single center experience Klinefelter sendromlu hastaların klinik ve laboratuvar bulgularının değerlendirilmesi: Tek merkez deneyimi

KALAYCI A., SEVEN M.

Turkiye Klinikleri Journal of Medical Sciences , cilt.41, sa.1, ss.63-69, 2021 (Scopus, TRDizin)

31. A Rare Immune Deficiency Case With Dysmorphic Findings: ICF Syndrome

Yigin A., Ozdemir F., Ozaydin A., Seven M.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.947, 2020 (SCI-Expanded, Scopus)

32. The First Case Report Coexistence of Asymmetric Crying Face, Congenital Ptosis And Isotretinoin Embryopathy

Seven M., Yigin A., Alay M. T., Tokdemir S. S.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.905, 2020 (SCI-Expanded, Scopus)

33. Two Twin Sister With Cohen Syndrome And Hirsutism: A Case Report

Ozdemir F., Yigin A., Ocak Z., Seven M.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.911, 2020 (SCI-Expanded, Scopus)

34. A Rare Case Report: Cloves Syndrome

Alay M. T., Yigin A., Uyanik B., Seven M.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.910-911, 2020 (SCI-Expanded, Scopus)

35. Anti-inflammatory effects of nobiletin on TLR4/TRIF/IRF3 and TLR9/IRF7 signaling pathways in prostate cancer cells.

Deveci O., Kaleli S., Onen H., Sarihan M., Guney E., Kalayci Y., et al.

Immunopharmacology and immunotoxicology , cilt.42, ss.93-100, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

36. Konjenital Adrenal Hiperplazi Vakalarında CYP21A2 Geni Kopya Sayısı Değişimlerinin MLPA Tekniği İle İncelenmesi

MAMMADOV B., YİĞİN A. K., ÖZDEMİR F., ÖZAYDIN A., SEVEN M.

Phoenix Medical Journal , cilt.2, sa.1, ss.1-10, 2020 (Hakemli Dergi)

37. Investigation of methylation alterations on srd5a2 gene in patients with 5 alpha reductase type 2 enzyme deficiency 5 alfa redüktaz tip 2 enzim eksikliği olan hastalarda srd5a2 geni metilasyon değişikliklerinin araştırılması

Kirat E., KALAYCI YİĞİN A., Özdemir F., SEVEN M.

Turkiye Klinikleri Journal of Medical Sciences , cilt.40, sa.1, ss.68-73, 2020 (SCI-Expanded, Scopus, TRDizin)

38. Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası

Alay M. T., Kalaycı Yiğin A., Seven M.

Anka Tıp Dergisi , cilt.1, sa.1, ss.46-49, 2019 (Hakemli Dergi)

39. The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome

ERKAL B., Yigin A. K., Palanduz S., Dasdemir S., Seven M.

AMERICAN JOURNAL OF MENS HEALTH , cilt.12, sa.6, ss.2152-2156, 2018 (SSCI, Scopus)

40. Investigation of genotoxic and cytotoxic effects of acrylamide in HEK293 cell line

Seçer Çelik F., Çora T., Kalaycı Yiğin A.

JOURNAL OF CANCER PREVENTION , cilt.9, sa.5, ss.260-264, 2018 (Hakemli Dergi)

41. Three novel mutations in 20 patients with hereditary spastic paraparesis.

Duz M. B., Dasdemir S., Yigin A., Akalin M. A., Seven M.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology , cilt.39, sa.9, ss.1551-1557, 2018 (SCI-Expanded, Scopus)

42. Investigation of the effect of flavonoid nobiletin on TLR4 signaling pathway in prostate cancer cell lines

Ozkan A. D., Kaleli S., Onen H. I., Aksoy O., Kaleli H. N., Guler E. M., et al.

FEBS OPEN BIO , cilt.8, ss.329, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

43. Selection of reliable reference genes for qRT-PCR analysis on head and neck squamous cell carcinomas.

Yigin A. K., Cora T., ACAR H., KURAR E., KAYIŞ S. A., ÇOLPAN B., et al.

BIOMEDICAL RESEARCH-INDIA , cilt.28, sa.5, ss.2014-2018, 2017 (SCI-Expanded, Scopus)

44. Altered Plasma MicroRNA Expression in Patients with Mitral Chordae Tendineae Rupture.

Bulent V., Kalaycı Y., AKDEMIR R., Tarik A., Akif C., AKSOY M., et al.

The Journal of heart valve disease , cilt.25, ss.580-588, 2016 (SCI-Expanded, Scopus)

45. Y kromozomu mikrodelesyonları ve erkek infertilitesi

KALAYCI YİĞİN A., Gökçe A.

Androloji Bülteni , cilt.18, sa.65, ss.126-129, 2016 (TRDizin)

46. DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture.

Yigin A., VATAN M. B., AKDEMIR R., AKSOY M., CAKAR M., KILIC H., et al.

Disease markers , cilt.2015, ss.825020, 2015 (SCI-Expanded, Scopus)

47. Screening of PTEN gene mutations in gastric cancer Gastrik kanserde PTEN geni mutasyonlari{dotless}ni{dotless}n İncelenmesi

Kalayci Yiǧin A., Çora T., Acar H., Toy H., Kurar E.

Turkiye Klinikleri Journal of Medical Sciences , cilt.34, sa.1, ss.104-110, 2014 (Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 23

1. A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder.

Kalaycı A., Ağırbaşlı D., Tarakçıoğlu M. C.

European Society of Human Genetics, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1142-1143, (Tam Metin Bildiri)

2. Challenges of multigene panel testing of breast cancer patients in Turkey

Ağırbaşlı D., Onal E., Gulhan D., Kalaycı A.

7th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1841, (Özet Bildiri)

3. Genetic Landscape of Hereditary Colorectal Cancer: Insights from Next-Generation Sequencing Analysis in a Retrospective Study

Tomaç H., Kalaycı A., Ağırbaşlı D.

57th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024, cilt.1, ss.932-1099, (Özet Bildiri)

4. The Significance of Genetic diagnosis in neuropsychiatric disorders: A novel pathogenic variant in PGAP1.

Kalaycı A., Ağırbaşlı D.

The 37th European College of Neuropsychopharmacology Conference ECNP 2024, Milan, İtalya, 21 - 24 Eylül 2024, ss.1-2, (Tam Metin Bildiri)

5. The effect of secondhand smoking exposure and IL-17 gene polymorphism on childhood asthma

Oztosun B., KALAYCI A., Baskan A. K., Ozceker D., Cokugras H., Sakalli A. A. K.

European-Respiratory-Society Congress (ERS), Vienna, Avusturya, 7 - 11 Eylül 2024, (Özet Bildiri)

6. Novel Variants and Phenotypic Heterogeneity in Congenital Insensitivity to Pain

Ovunc S., Yigin A. K., Kesriklioglu B., Izgi G., Ulug F., SALTIK S., et al.

75th Annual Meeting of the American-Academy-of-Neurology (AAN), Massachusetts, Amerika Birleşik Devletleri, 22 - 27 Nisan 2023, sa.17, (Özet Bildiri)

7. Evaluation of Clinical Findings and Molecular Genetic Results of the Patients with CACNA1A Variants: Single Center Experience

Ovunc S., KALAYCI A., GÜLER S., Cinar C., AĞIRBAŞLI D., Seven M.

75th Annual Meeting of the American-Academy-of-Neurology (AAN), Massachusetts, Amerika Birleşik Devletleri, 22 - 27 Nisan 2023, (Özet Bildiri)

8. Desanto-Shinawi Sendromu: Yeni Bir Varyant ve Türkiye’Den İlk Olgu

Güllük M., Karaca Doğan B., Kesriklioğlu B., Ağırbaşlı D., Kalaycı Yiğin A.

15.Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.279-280, (Özet Bildiri)

9. Werner Sendromlu Bir Olgu Sunumu

Karaca Doğan B., Güllük M., Kesriklioğlu B., Kalaycı Yiğin A., Ağırbaşlı D., Seven M.

15.Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.210, (Özet Bildiri)

10. Nadir Derivatif 9 ve T(9;15) Translokasyonu: Nadir Bulguları Olan İlk Olgu Sunumu

Karaca Doğan B., Ağırbaşlı D., Kalaycı Yiğin A., Seven M.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.20-21, (Özet Bildiri)

11. SLC12A3 geninde yeni bir homozigot mutasyonun neden olduğu Gitelman Sendromu ve Otoimmun Tiroidit birlikteliği

Koca O., Alay M. T., Murt A., Kalaycı Yiğin A., Seven M., Bavunoğlu I.

24. Ulusal İç Hastalıkları Kongresi, Antalya, Türkiye, 19 - 23 Ekim 2022, ss.254, (Özet Bildiri)

12. KARYOMEGALIC INTERSTITIAL NEPHRITIS: AN ENTITY ASSOCIATED WITH DIFFERENT GENETIC MUTATIONS

ÖZCAN Ş. G., ALAY M. T., KALAYCI YİĞİN A., TRABULUS S., SEYAHİ N.

58th Congress of the European-Renal-Association (ERA)-European-Dialysis-and-Transplant-Association (EDTA), ELECTR NETWORK, 5 - 08 Haziran 2021, cilt.36, ss.116, (Özet Bildiri)

13. Ectodermal Dysplasia Type 4: Phenotype-Genotype Correlation

Özaydın A., Gencebay G., Kalaycı Yiğin A., Seven M., Alay M. T.

European Human Genetics Virtual Conference, 6 - 09 Haziran 2020, ss.417, (Özet Bildiri)

14. A Study on the Distribution of Thrombophilia-associated Gene Mutations in Thrombophilia Diseases

Özaydın A., Kalaycı Yiğin A., Özdemir F., Seven M.

INSAC - Natural and Health Sciences 2020 (INHS-2020), İstanbul, Türkiye, 22 - 23 Mayıs 2020, ss.104-106, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

15. Role of Syndecan Gene in the Pathogenesis of Liver Damage in Radioactive Iodine-131 Therapy

Yumusak N., Yigin A., Atilgan H., Yigin A., Koca G., Yilmaz R., et al.

32nd Annual Congress of the European-Association-of-Nuclear-Medicine (EANM), Barcelona, İspanya, 12 - 16 Ekim 2019, cilt.46, (Özet Bildiri)

16. A rarely seen 47,XXY/46,XX mosaicism of Klinefelter syndrome: Case report

Yigin A., Gumus U., Seven M.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.1020, (Özet Bildiri)