Prof. Dr. Deniz TORUN

1. Clinical diversity of different genetic variants changes the way we look at diseases; Two cases of ACTL6B gene-related DECAM syndrome

Üstün C., Coşkun A. N., ARSLAN M., TORUN D., ÜNAY B.

Neurology Asia , cilt.31, sa.2, ss.847-851, 2026 (SCI-Expanded, Scopus)

2. Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Leitão E., Santini A., Cogne B., Essid M., Athanasiadou M., LaFlamme C. W., et al.

Nature Genetics , cilt.58, sa.4, ss.782-797, 2026 (SCI-Expanded, Scopus)

3. Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey

TORUN D., AKIN O.

Clinical Dysmorphology , cilt.33, sa.4, ss.145-151, 2024 (SCI-Expanded, Scopus)

4. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

Rossi A., Blok L. S., Neuser S., Klöckner C., Platzer K., Faivre L. O., et al.

Clinical Genetics , cilt.104, sa.2, ss.186-197, 2023 (SCI-Expanded, Scopus)

5. Effect of antioxidant lycopene on human osteoblasts

Bengi V U., SAYGUN N. I., Bal V., ÖZCAN E., KÖSE ÖZKAN C., TORUN D., et al.

Clinical Oral Investigations , cilt.27, sa.4, ss.1637-1643, 2023 (SCI-Expanded, Scopus)

6. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome

TORUN D., ARSLAN M., Çavdarlı B., Akar H., Cram D. S.

Turkish Journal of Pediatrics , cilt.64, sa.5, ss.956-963, 2022 (SCI-Expanded, Scopus, TRDizin)

7. Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report

TORUN D., ARSLAN M., Yüksel Z.

American Journal of Medical Genetics, Part A , cilt.185, sa.5, ss.1554-1560, 2021 (SCI-Expanded, Scopus)

8. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Dyment D. A., O'Donnell-Luria A., Agrawal P. B., Coban Akdemir Z., Aleck K. A., Antaki D., et al.

American Journal of Medical Genetics, Part A , cilt.185, sa.1, ss.119-133, 2021 (SCI-Expanded, Scopus)

9. Carbonic anhydrase VA deficiency: A very rare case of hyperammonemic encephalopathy

Olgac A., Kasapkara C. S., KILIÇ M. K., Keskin E. Y., SANDAL G., Cram D. S., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.10, ss.1349-1352, 2020 (SCI-Expanded, Scopus)

10. Increased endothelial dysfunction and insulin resistance in patients with klinefelter syndrome

HAYMANA C., Aydoğdu A., Demirci İ., Dinç M., Demir O., TORUN D., et al.

Endocrine, Metabolic and Immune Disorders - Drug Targets , cilt.18, sa.4, ss.401-406, 2018 (SCI-Expanded, Scopus)

11. Microarray analysis of the gene expression profile in triethylene glycol dimethacrylate-treated human dental pulp cells

TORUN D., Torun Z., DEMİRKAYA K., Sarper M., Elçi M., Avcu F.

Nigerian Journal of Clinical Practice , cilt.20, sa.11, ss.1368-1403, 2017 (SCI-Expanded, Scopus)

12. Effects of triethylene glycol dimethacrylate (Tegdma) on the odontoclastic differentiation ability of human dental pulp cells

Öncel Torun Z., TORUN D., BAYKAL B., Öztuna A., YEŞİLDAL F., Avcu F.

Journal of Applied Oral Science , cilt.25, sa.6, ss.631-640, 2017 (SCI-Expanded, Scopus)

13. Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study

KÖYLÜ M. T., Kucukevcilioglu M., Erdurman F. C., DURUKAN A. H., Sobacı G., TORUN D., et al.

Ophthalmic Genetics , cilt.38, sa.4, ss.352-356, 2017 (SCI-Expanded, Scopus)

14. MEFV gene mutation frequency and distribution of mutations in FMF patients: Analysis of a large group of patients from a single center FMF hastalarindaki MEFV gen mutasyon sikliği ve mutasyonlarin dağilimi: Tek bir merkezden geniş bir hasta grubunun analizi

TORUN D., TEKGÖZ E., Kavuş H., Öztuna A., Akar H., Çinar M., et al.

Gulhane Medical Journal , cilt.59, sa.1, ss.24-27, 2017 (Scopus, TRDizin)

15. Karyotype analysis results in girls followed with short stature Boy kisaliği nedeni ile takip edilen kiz çocuklarinda karyotip analizi sonuçlarimiz

TORUN D., Kavuş H., Öztuna A., Akar H., Akin O., TUNCA Y.

Gulhane Medical Journal , cilt.59, sa.1, ss.21-23, 2017 (Scopus, TRDizin)

16. Hypoxia inhibits mineralization ability of human dental pulp cells treated with TEGDMA but increases cell survival in accordance with the culture time

Öncel Torun Z., TORUN D., DEMİRKAYA K., Yavuz S. T., Sarper M., Avcu F.

Archives of Oral Biology , cilt.71, ss.59-64, 2016 (SCI-Expanded, Scopus)

17. Gene expression changes in bioceramic paste-treated human dental pulp cells

TORUN D., Torun Z. Ö., DEMİRKAYA K., Sarper M., Elçi M. P., Avcu F.

Journal of Oral Science , cilt.58, sa.3, ss.307-315, 2016 (SCI-Expanded, Scopus)

18. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Bayram Y., Karaca E., Akdemir Z. C., YILMAZ B. E., Tayfun G. A., Aydin H., et al.

Journal of Clinical Investigation , cilt.126, sa.2, ss.762-778, 2016 (SCI-Expanded, Scopus)

19. Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-mb deletion of 14q12 q21.2 and a 550-kb deletion of 18p11.23: Microarray delineation of an unbalanced chromosome rearrangement and a literature review

TORUN D., ARSLAN M., Akar H., Karaer K., ÜNAY B., TUNCA Y.

Genetic Counseling , cilt.27, sa.2, ss.165-176, 2016 (SCI-Expanded, Scopus)

20. Is Turkey a prothrombin gene mutation region similar to the Mediterranean countries?

BUĞAN B., YILDIRIM E., TORUN D., Kozan S., ÇELİK M., Çelik T.

Anatolian Journal of Cardiology , cilt.16, sa.3, ss.228, 2016 (SCI-Expanded, Scopus, TRDizin)

21. Effects of iRoot BP and white mineral trioxide aggregate on cell viability and the expression of genes associated with mineralization

Öncel Torun Z., TORUN D., DEMİRKAYA K., Yavuz S., Elçi M., Sarper M., et al.

International Endodontic Journal , cilt.48, sa.10, ss.986-993, 2015 (SCI-Expanded, Scopus)

22. Mitochondrial complex I and III mRNA levels in bipolar disorder

Akarsu S., TORUN D., Erdem M., Kozan S., Akar H., UZUN Ö.

Journal of Affective Disorders , cilt.184, ss.160-163, 2015 (SCI-Expanded, SSCI, Scopus)

23. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Ozantürk A., Marshall J. D., Collin G. B., Düzenli S., Marshall R. P., Candan Ş., et al.

Journal of Human Genetics , cilt.60, sa.1, ss.1-9, 2015 (SCI-Expanded, Scopus)

24. Mitochondrial complex I and III gene mRNA levels in schizophrenia, and their relationship with clinical features

Akarsu S., TORUN D., Bolu A., Erdem M., Kozan S., Ak M., et al.

Journal of Molecular Psychiatry , cilt.2, sa.1, 2014 (Scopus)

25. The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery

YILMAZ S., ERDEM H., Tunay S., TORUN D., Genc H., TUNCA Y., et al.

Korean Journal of Internal Medicine , cilt.28, sa.5, ss.594-598, 2013 (Scopus)

26. Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype

Rosti R. O., Karaer K., KARAMAN B., TORUN D., GÜRAN Ş., Bahce M.

American Journal of Medical Genetics, Part A , cilt.161, sa.7, ss.1737-1742, 2013 (SCI-Expanded, Scopus)

27. Travelling after amniocentesis: Answer to a frequent question

KARAŞAHİN K. E., Ozturk M., Çoksuer H., TORUN D., TUNCA Y.

Journal of Obstetrics and Gynaecology , cilt.33, sa.4, ss.343-345, 2013 (SCI-Expanded, Scopus)

28. Methylation of SOCS3 in myeloproliferative neoplasms and secondary erythrocytosis/thrombocythemia Miyeloproliferatif neoplazmlar ve sekonder eritrositoz/trombositemide SOCS3 metilasyonu

TORUN D., Nevruz O., AKYOL M., Kozan S., Bahçe M., GÜRAN Ş., et al.

Turkish Journal of Hematology , cilt.30, sa.1, ss.13-18, 2013 (SCI-Expanded, Scopus, TRDizin)

29. The investigation of angiotensin converting enzyme I/D and plasminogen activator inhibitor-1 4G/5G polymorphisms in venous thromboembolism patients Venöz tromboembolili hastalarda anjiyotensin dönüştürücü enzim I/D ve plazminojen aktivatör inhibitör-1 4G/5G gen polimorfizmlerinin araştırılması

Kaya H., Karkucak M., SalIfoǧlu H., TORUN D., Kozan S., TUNCA Y.

Tuberkuloz ve Toraks , cilt.61, sa.2, ss.88-95, 2013 (Scopus, TRDizin)

30. Macrocephaly with multiple epiphyseal dysplasia: A second example of Al Gazali-Bakalinova syndrome?

Karaer K., Rosti R., TORUN D., SANAL H. T., GÜRAN Ş.

Genetic Counseling , cilt.23, sa.4, ss.457-463, 2012 (SCI-Expanded, Scopus)

31. BDNF and GAD 65 responses of primary auditory cortex and inferior colliculus to noise exposure and cochlear ablation

Erol U., SATAR B., Kozan S., Ates K., TORUN D., Goksoy C., et al.

Journal of International Advanced Otology , cilt.8, sa.2, ss.187-195, 2012 (SCI-Expanded, Scopus)

32. Rheumatic and autoimmune diseases may have a role in disease progression of myelodysplastic syndrome Ramatolojik ve otoimmün hastalıkların myelodisplastik sendromun progresyonunda rolü olabilir

Kozan S., TORUN D., TUNCA Y., Beyan C., Ifran A., Kaptan M. K., et al.

Turkiye Klinikleri Journal of Medical Sciences , cilt.32, sa.4, ss.910-916, 2012 (Scopus)

33. New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels

Koç A., Bahce M., SANAL H. T., ULUDAĞ A., Kozan S., TORUN D., et al.

Genetic Counseling , cilt.22, sa.2, ss.129-134, 2011 (SCI-Expanded, Scopus)

34. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): The clinical recognition and differential diagnosis

Karaer K., Rosti R. Ö., TORUN D., SANAL H. T., Bahçe M., GÜRAN Ş.

Turkish Journal of Pediatrics , cilt.53, sa.3, ss.346-351, 2011 (SCI-Expanded, Scopus)

35. I(17q) in a case with myelodysplastic syndrome: An important and rarely seen chromosomal anomaly Miyelodisplastik sendromlu olguda i(17q): Nadir görülen önemli bir kromozomal anomali

Bahçe M., Beyan C., Erdem G., Ateş Ö., Kozan S., TORUN D., et al.

Gulhane Medical Journal , cilt.53, sa.4, ss.301-303, 2011 (Scopus, TRDizin)

36. The effect of cytogenetic analysis results on prognosis in cases with myelodysplastic syndrome Miyelodisplastik sendrom olgularinda sitogenetik analiz sonuçlarinin hasta prognozuna etkisi

GÜRAN Ş., Beyan C., TUNCA Y., Kozan S., TORUN D., Ifran A., et al.

Gulhane Medical Journal , cilt.53, sa.2, ss.104-106, 2011 (Scopus, TRDizin)

37. Evaluation of breast enlargement in young males and factors associated with gynecomastia and pseudogynecomastia

Yazici M., ŞAHİN M., Bolu E., Gok D., Taslipinar A., Tapan S., et al.

Irish Journal of Medical Science , cilt.179, sa.4, ss.575-583, 2010 (SCI-Expanded, Scopus)

38. Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF

GÜRAN Ş., Rosti R. O., Sarici S. Ü., TORUN D., Kozan S., Bahe M.

Reproductive BioMedicine Online , cilt.21, sa.5, ss.721-722, 2010 (SCI-Expanded, Scopus)

39. The rate of MEFV gene mutations in hematolymphoid neoplasms

Celik S., Erikci A., TUNCA Y., Sayan O., Terekeci H., Umur E., et al.

International Journal of Immunogenetics , cilt.37, sa.5, ss.387-391, 2010 (SCI-Expanded, Scopus)

40. High frequency of MEFV gene mutations in patients with myeloid neoplasm

Oktenli C., Sayan O., Celik S., Erikci A. A., TUNCA Y., Terekeci H. M., et al.

International Journal of Hematology , cilt.91, sa.5, ss.758-761, 2010 (SCI-Expanded, Scopus)

41. A case with neurosensorial hearing loss and anodonty findings: Is this a variant of otodental syndrome? Nörosensoryal işitme kaybı ve anodonti bulgular? Olan bir olgu: Otodental sendromun bir varyantı mı?

TORUN D., GÜRAN Ş., Karahatay S., Öncel Torun Z., GEREK M., Bahçe M.

Turkiye Klinikleri Journal of Medical Sciences , cilt.30, sa.1, ss.387-391, 2010 (SCI-Expanded, Scopus)

42. Coexistence of cytogenetic findings of trisomy 8, trisomy 9 and trisomy 21 in a case with acute myeloblastic leukemia Akut miyeloblastik lösemili olguda trizomi 8, trizomi 9 ve trizomi 21 sitogenetik bulgularının birlikteliǧi

Kozan S., Öztürk E., TORUN D., Bahçe M., Kaya H., Beyan C., et al.

Gulhane Medical Journal , cilt.52, sa.4, ss.287-289, 2010 (Scopus, TRDizin)

43. A new syndrome associated with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and mild facial dysmorphism

GÜRAN Ş., TORUN D., MUTLU F. M., UYSAL Y., Ugurel M. S., Bahce M.

Ophthalmic Genetics , cilt.30, sa.3, ss.146-151, 2009 (SCI-Expanded, Scopus)

44. Genetic appoproch in cases with disorders of sexual development Cinsel farklılaşma bozukluǧu olan olgularda genetik yaklaşım

Bahçe M., TUNCA Y., Gül D., Imirzalioǧlu N., Emre Taşçilar M., Bolu E., et al.

Gulhane Medical Journal , cilt.51, sa.4, ss.223-228, 2009 (Scopus, TRDizin)

45. Deletion in 3P21.3 region in a multiple myeloma case with poor prognosis: Letter to the editor 3P21.3 bölgesinde delesyon ile karakterize kötü prognozla giden bir multipl miyeloma olgusu

GÜRAN Ş., Ateş Ö., TORUN D., Kozan S., Nevruz O., Avcu F., et al.

Turkiye Klinikleri Journal of Medical Sciences , cilt.29, sa.6, ss.1795-1796, 2009 (SCI-Expanded, Scopus)

46. Three hemifascial microsomia patients and the review of the literature Üç adet hemifasiyal mikrosomia hastasi ve literatürün gözden geçirilmesi

ULUDAĞ A., Tepeli E., Koç A., Kozan S., TORUN D., GÜRAN Ş., et al.

Anatolian Journal of Clinical Investigation , cilt.3, sa.4, ss.252-255, 2009 (Scopus)

47. Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts

TORUN D., Bahce M., Alanbay I., GÜRAN Ş., Baser I.

Prenatal Diagnosis , cilt.29, sa.5, ss.536-537, 2008 (SCI-Expanded, Scopus)

48. De novo translocation in a newborn with multiple congenital anomalies: 46,xx,t(1;18)(q31;p11) Multipl konjenital anomalili bir yenidoǧanda de novo translokasyon: 46,xx,t(1;18)(q31;p11)

Tunç T., TORUN D., Kozan S., Kul M., Sarici S. Ü., Kocaoǧlu M., et al.

Gulhane Medical Journal , cilt.49, sa.3, ss.195-198, 2007 (Scopus, TRDizin)

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Proje

Tez Danışmanlığı

Açık Erişim