Scientific work

Doç. Dr. Esin Karakılıç Özturan

47 publications. The source of the information is stated next to each publication.

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  1. Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant

    Therapeutic advances in endocrinology and metabolism, 2026

    DOI 10.1177/20420188261424161 PMID 41732517 Open-access full textSource: Europe PMC

  2. A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report

    Journal of clinical research in pediatric endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2024.2024-6-25 PMID 39462987 Open-access full textSource: Europe PMC

  3. Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature

    Journal of clinical research in pediatric endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2024.2024-7-18 PMID 39387353 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  4. Cardiovascular Involvement in Children with Type 1 Diabetes Mellitus: Insights from Cardiac Electrophysiological Balance and Electrocardiographic Parameters

    Koşuyolu Heart Journal, 2026

    DOI 10.51645/khj.2026.587 Open-access full textSource: OpenAlex

  5. Thyroid

    Yearbook of pediatric endocrinology, 2026

    DOI 10.1530/ey.23.3.0 Source: OpenAlex

  6. Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism

    Endocrine, 2025

    DOI 10.1007/s12020-025-04244-5 PMID 40382736 5 citations (Europe PMC) Source: OpenAlex

  7. Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone Treatment

    Journal of clinical research in pediatric endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2024.2024-7-3 PMID 39377546 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  8. Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability

    Endocrine, 2025

    DOI 10.1007/s12020-025-04417-2 PMID 40974508 1 citation (OpenAlex) Source: OpenAlex

  9. The Effects of the COVID-19 Pandemic on Pubertal Development in Girls: A Retrospective Evaluation of Girls Presenting with Precocious Puberty Before and During the Pandemic

    Çocuk Dergisi / Journal of Child, 2025

    DOI 10.26650/jchild.2024.1595906 Open-access full textSource: OpenAlex

  10. INVESTIGATION OF THE TRIGGERING ROLE OF INFECTIOUS AGENTS IN THE PATHOGENESIS OF AUTOIMMUNE THYROIDITIS IN CHILDREN AND ADOLESCENTS

    Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2025

    DOI 10.26650/iuitfd.1654427 Open-access full textSource: OpenAlex

  11. ÇOCUKLAR VE ERGENLERDE OTOİMMÜN TİROİDİTİN PATOGENEZİNDE ENFEKSİYÖZ ETKENLERİN TETİKLEYİCİ ROLÜNÜN ARAŞTIRILMASI

    DergiPark (Istanbul University), 2025

    Source: OpenAlex

  12. Novel variants ensued genomic imprinting in familial central precocious puberty

    Journal of endocrinological investigation, 2024

    DOI 10.1007/s40618-023-02300-3 PMID 38367171 8 citations (Europe PMC) Open-access full textSource: Europe PMC

  13. Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A ‐Related Phenotypes

    Clinical Genetics, 2024

    DOI 10.1111/cge.14672 PMID 39662966 1 citation (OpenAlex) Source: OpenAlex

  14. Tip 2 Diabetes Mellitus Olan Çocuğun Izlemi ve Toplumda Bakımı

    Istanbul University Press eBooks, 2024

    DOI 10.26650/b/ch32.2024.010.032 Source: OpenAlex

  15. Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty

    Hormone Research in Paediatrics, 2024

    DOI 10.1159/000542307 PMID 39496238 Open-access full textSource: OpenAlex

  16. A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

    Journal of clinical research in pediatric endocrinology, 2023

    DOI 10.4274/jcrpe.galenos.2022.2021-12-3 PMID 35466665 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  17. In response to: “Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey”

    Journal of clinical research in pediatric endocrinology, 2023

    DOI 10.4274/jcrpe.galenos.2023.2023-9-20 PMID 37752752 Open-access full textSource: Europe PMC

  18. Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey

    Journal of clinical research in pediatric endocrinology, 2023

    DOI 10.4274/jcrpe.galenos.2023.2023-1-13 PMID 36987788 10 citations (Europe PMC) Open-access full textSource: Europe PMC

  19. PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

    Journal of clinical research in pediatric endocrinology, 2023

    DOI 10.4274/jcrpe.galenos.2023.2023-4-4 PMID 37338295 4 citations (Europe PMC) Open-access full textSource: Europe PMC

  20. Body proportions in patients with Turner syndrome on growth hormone treatment

    TURKISH JOURNAL OF MEDICAL SCIENCES, 2023

    DOI 10.55730/1300-0144.5612 PMID 37476877 6 citations (OpenAlex) Open-access full textSource: OpenAlex

  21. A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy

    Hormone Research in Paediatrics, 2023

    DOI 10.1159/000532000 PMID 37463572 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  22. THE INFLUENCE OF GROWTH HORMONE TREATMENT ON INSULIN SENSITIVITY IN CHILDREN AND ADOLESCENTS

    Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2023

    DOI 10.26650/iuitfd.1301767 Open-access full textSource: OpenAlex

  23. Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome

    American journal of medical genetics. Part A, 2022

    DOI 10.1002/ajmg.a.62742 PMID 35393770 3 citations (Europe PMC) Source: Europe PMC

  24. Long-term Follow-up of a Toddler with Papillary Thyroid Carcinoma: A Case Report with a Literature Review of Patients Under 5 Years of Age

    Journal of clinical research in pediatric endocrinology, 2022

    DOI 10.4274/jcrpe.galenos.2020.2020.0178 PMID 33448212 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  25. Growth and Pubertal Features in a Cohort of 83 Patients with Osteogenesis Imperfecta

    Klinische Pädiatrie, 2022

    DOI 10.1055/a-1730-5412 PMID 35139543 8 citations (OpenAlex) Source: OpenAlex

  26. BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3

    Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022

    DOI 10.26650/iuitfd.2021.884235 6 citations (OpenAlex) Open-access full textSource: OpenAlex

  27. SLC34A3 Gene Mutation as a Rare Cause of Hypophosphatemia in Two Siblings

    Acta Endocrinologica (Bucharest), 2022

    DOI 10.4183/aeb.2022.387 PMID 36699160 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  28. COMPARISON OF SINGLE DOSE AND MULTI-DOSE hCG STIMULATION TESTS

    Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022

    DOI 10.26650/iuitfd.949141 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  29. Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls With Central Precocious Puberty

    The Journal of Clinical Endocrinology & Metabolism, 2021

    DOI 10.1210/clinem/dgab190 PMID 33765130 16 citations (Europe PMC) Open-access full textSource: OpenAlex

  30. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

    Yearbook of pediatric endocrinology, 2021

    DOI 10.1530/ey.18.7.1 1 citation (OpenAlex) Source: OpenAlex

  31. Türkiye’de 2018-2021 Yılları Arasında Tanı Alan Tip 1 Diyabetli Çocuk ve Adolesanların Tanı Özellikleri ve Covid19 Pandemisinin Etkileri

    Bursa Uludag University - AVESIS, 2021

    Source: OpenAlex

  32. LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency

    Hormones (Athens, Greece), 2021

    DOI 10.1007/s42000-020-00257-z PMID 33155142 6 citations (Europe PMC) Source: ORCID

  33. CİNSİYET HOŞNUTSUZLUĞU OLAN ADOLESANLARDA ENDOKRİNOLOJİK YAKLAŞIM

    Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021

    DOI 10.26650/iuitfd.2021.0203 Open-access full textSource: OpenAlex

  34. Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

    59th ESPE Annual Meeting (ESPE 2021 Online), 2021

    Source: OpenAlex

  35. Sequence of MKRN3 and DLK1 genes in cases with familial central precocious puberty

    59th ESPE Annual Meeting (ESPE 2021 Online), 2021

    Source: OpenAlex

  36. Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience

    Hormone Research in Paediatrics, 2020

    DOI 10.1159/000512247 PMID 33498041 5 citations (OpenAlex) Open-access full textSource: OpenAlex

  37. TÜRKİYEDE ÇOCUK VE ERGEN TİP 1 DİYABET KOHORT ÇALIŞMASI İLK YIL SONUÇLARI

    Bursa Uludag University - AVESIS, 2019

    Source: OpenAlex

  38. The Role of Anti-Neutrophil Antibodies in the Etiologic Classification of Childhood Neutropenia: A Cross-Sectional Study in a Tertiary Center

    Journal of Pediatric Hematology/Oncology, 2019

    DOI 10.1097/mph.0000000000001710 PMID 31895216 6 citations (OpenAlex) Source: OpenAlex

  39. Two Siblings with Hypophosphatemic Rickets: SLC34A3 Gene Mutations with Different Clinical Phenotypes

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source: OpenAlex

  40. Follow-up of Individuals with Gender Identity Disorders: A Long and Challenging Process

    Dspace Repository (Marmara Üniversitesi), 2019

    Open-access full textSource: OpenAlex

  41. The investigation of genetic etiology in familial cases with congenital hypothyroidism

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source: OpenAlex

  42. Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

    57th Annual ESPE, 2018

    1 citation (OpenAlex) Source: OpenAlex

  43. Endokrin Hastalıklarda Çocukluktan Erişkine Geçiş Deneyimi

    Çocuk Dergisi / Journal of Child, 2018

    DOI 10.5222/j.child.2018.93446 Open-access full textSource: OpenAlex

  44. Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

    57th Annual ESPE, 2018

    Source: OpenAlex

  45. Clinical, Laboratory and Molecular Genetic Findings of Patients with 17[beta]-Hydroxysteroid Dehydrogenase 3 Deficiency

    57th Annual ESPE, 2018

    Source: OpenAlex

  46. PROKR2 Mutations in Patients with Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

    57th Annual ESPE, 2018

    Source: OpenAlex

  47. Genotype and Phenotype Characteristics of Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

    ESPE 2014, 2014

    Source: OpenAlex