Travaux scientifiques

Doç. Dr. Saygın Abalı

93 publications. La source de l’information est indiquée à côté de chaque publication.

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  1. Clinical Characteristics and Thyroid Findings in Children with Isolated Premature Adrenarche

    Children, 2026

    DOI 10.3390/children13091221 PMID 42794241 Texte intégral en libre accèsSource : OpenAlex

  2. Diagnostic Utility of Genetic Testing in Hyperthyroxinemia With Non‐Suppressed TSH

    Clinical Endocrinology, 2026

    DOI 10.1111/cen.70126 PMID 41800491 Source : OpenAlex

  3. Early Childhood Obesity: Multifactorial Influences with a Prominent Familial Contribution

    Journal of Clinical Research in Pediatric Endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2026.2025-12-23 PMID 41837715 Texte intégral en libre accèsSource : OpenAlex

  4. Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

    EBioMedicine, 2025

    DOI 10.1016/j.ebiom.2025.105624 PMID 40037090 9 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  5. 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

  6. Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency

    The Journal of Clinical Endocrinology & Metabolism, 2025

    DOI 10.1210/clinem/dgaf612 PMID 41349002 2 citations (Europe PMC) Source : OpenAlex

  7. Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy

    Journal of Clinical Research in Pediatric Endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2025.2024-12-7 PMID 40269620 2 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  8. Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy

    Children, 2025

    DOI 10.3390/children12121655 PMID 41462795 Texte intégral en libre accèsSource : OpenAlex

  9. Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 ‐Related Rothmund–Thomson Syndrome

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64179 PMID 40693833 1 citation (Europe PMC) Source : OpenAlex

  10. Early metabolic biomarkers in neonates of diabetic mothers: predictive insights from amino acid and acylcarnitine profiling

    The Journal of Maternal-Fetal & Neonatal Medicine, 2025

    DOI 10.1080/14767058.2025.2528051 PMID 40854794 2 citations (Europe PMC) Source : OpenAlex

  11. Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants

    Clinical Endocrinology, 2025

    DOI 10.1111/cen.70064 PMID 41327588 Source : OpenAlex

  12. The Mystery of Elevated β-hCG in GnRH-Independent Precocious Puberty without a Detectable Tumor: A Six-Year Diagnostic Odyssey

    Hormone Research in Paediatrics, 2025

    DOI 10.1159/000549889 PMID 41335548 Source : OpenAlex

  13. Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

    Journal of Pediatric Endocrinology and Metabolism, 2025

    DOI 10.1515/jpem-2025-0208 PMID 40960910 1 citation (Europe PMC) Source : OpenAlex

  14. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    EBioMedicine, 2024

    DOI 10.1016/j.ebiom.2023.104941 PMID 38168586 31 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  15. Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia

    The Journal of Clinical Endocrinology & Metabolism, 2024

    DOI 10.1210/clinem/dgae868 PMID 39700445 3 citations (Europe PMC) Source : OpenAlex

  16. Thyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus

    Hormone Research in Paediatrics, 2024

    DOI 10.1159/000543329 PMID 39719130 Texte intégral en libre accèsSource : OpenAlex

  17. Interdisiplinary and intraobserver reliability of the Greulich-Pyle method among Turkish children

    Journal of Pediatric Endocrinology and Metabolism, 2023

    DOI 10.1515/jpem-2023-0303 PMID 37844258 1 citation (Europe PMC) Source : OpenAlex

  18. Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature

    Hormone Research in Paediatrics, 2023

    DOI 10.1159/000529070 PMID 36630941 1 citation (Europe PMC) Source : OpenAlex

  19. Preterm ovarian hyperstimulation syndrome mimicking clitoromegaly

    Pediatrics & Neonatology, 2023

    DOI 10.1016/j.pedneo.2023.04.008 PMID 37380551 1 citation (Europe PMC) Source : OpenAlex

  20. Clinical Features of Children and Adolescents at the Onset of Diabetes: A Single-center Experience

    Bakirkoy Tip Dergisi / Medical Journal of Bakirkoy, 2023

    DOI 10.4274/bmj.galenos.2023.2022.12-11 Source : OpenAlex

  21. Early postnatal metabolic profile in neonates with critical CHDs

    Cardiology in the Young, 2022

    DOI 10.1017/s1047951122003134 PMID 36193679 5 citations (Europe PMC) Source : OpenAlex

  22. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

    Bone, 2022

    DOI 10.1016/j.bone.2022.116344 PMID 35104666 Texte intégral en libre accèsSource : OpenAlex

  23. 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) Texte intégral en libre accèsSource : OpenAlex

  24. 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

  25. Neonatal Problems and Infancy Growth of Term SGA Infants: Does “SGA” Definition Need to Be Re-evaluated?

    Frontiers in Pediatrics, 2021

    DOI 10.3389/fped.2021.660111 PMID 34869090 7 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  26. Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia

    Journal of Pediatric Endocrinology and Metabolism, 2021

    DOI 10.1515/jpem-2021-0087 PMID 34142517 3 citations (Europe PMC) Source : OpenAlex

  27. Early Postnatal Metabolic Profile in Neonates With Different Birth Weight Status: A Pilot Study

    Frontiers in Pediatrics, 2021

    DOI 10.3389/fped.2021.646860 PMID 33987152 14 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  28. Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

    Journal of Clinical Research in Pediatric Endocrinology, 2021

    DOI 10.4274/jcrpe.galenos.2021.2021.0056 PMID 34250910 11 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  29. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

    Calcified Tissue International, 2021

    DOI 10.1007/s00223-021-00928-y PMID 34761296 4 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  30. SHOX Eksikliği ve SHOX Eksikliğinde Büyüme Hormonu Kullanımı

    2021

    Source : OpenAlex

  31. A rare cause of hypercalcemia: Congenital Lactase Deficiency

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

    Source : OpenAlex

  32. A Novel Deletion Involving the First GNAS Exon Encoding Gsα Causes PHP1A Without Methylation Changes At Exon A/B

    SSRN Electronic Journal, 2021

    DOI 10.2139/ssrn.3990635 Texte intégral en libre accèsSource : OpenAlex

  33. Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route

    Journal of Pediatric Endocrinology and Metabolism, 2020

    DOI 10.1515/jpem-2019-0466 PMID 32049653 3 citations (Europe PMC) Source : OpenAlex

  34. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

    The Journal of Clinical Endocrinology & Metabolism, 2019

    DOI 10.1210/jc.2019-00248 PMID 31042289 71 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  35. Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

    Journal of Clinical Research in Pediatric Endocrinology, 2019

    DOI 10.4274/jcrpe.galenos.2019.2019.0098 PMID 31514490 11 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  36. A rare cause of hypertension in childhood: Answers

    Pediatric Nephrology, 2019

    DOI 10.1007/s00467-019-04329-0 PMID 31541304 3 citations (Europe PMC) Source : OpenAlex

  37. A rare cause of hypertension in childhood: Questions

    Pediatric Nephrology, 2019

    DOI 10.1007/s00467-019-04326-3 PMID 31541303 Source : OpenAlex

  38. Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  39. Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  40. Characteristics of puberty, pubertal height gain and final height in children with classical 21 hydroxylase deficiency

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  41. Thyroid Function Tests and Affecting Factors in Twins and Triplets

    57th Annual ESPE, 2018

    Source : OpenAlex

  42. Incidence of Type 1 Diabetes in Children Aged Below 18 Years During 2013-2015 in Northwest Turkey

    Journal of Clinical Research in Pediatric Endocrinology, 2018

    DOI 10.4274/jcrpe.0025 PMID 29789274 8 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  43. Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty

    Journal of Pediatric Endocrinology and Metabolism, 2018

    DOI 10.1515/jpem-2017-0123 PMID 29353264 7 citations (Europe PMC) Source : OpenAlex

  44. Nationwide Hypophosphatemic Rickets Study

    Trakya University's Institutional Open Access System (Trakya University), 2018

    Texte intégral en libre accèsSource : OpenAlex

  45. Çok Merkezli Olarak Hipofosfatemik Riketsli Olguların Değerlendirilmesi

    Bursa Uludag University - AVESIS, 2018

    Source : OpenAlex

  46. Nationwide Hypophosphatemic Rickets Study

    Bursa Uludag University - AVESIS, 2018

    Source : OpenAlex

  47. Retinal Ganglion Cell Loss in Children With Type 1 Diabetes Mellitus Without Diabetic Retinopathy

    Ophthalmic surgery, lasers & imaging retina, 2017

    DOI 10.3928/23258160-20170601-05 PMID 28613353 28 citations (Europe PMC) Source : OpenAlex

  48. The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience

    Journal of Clinical Research in Pediatric Endocrinology, 2017

    DOI 10.4274/jcrpe.5204 PMID 29175806 13 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  49. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

    American Journal of Ophthalmology Case Reports, 2017

    DOI 10.1016/j.ajoc.2017.06.007 PMID 29260097 13 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  50. A RARE ENDOCRINE CAUSE OF HYPERTENSION: APPARENT MINERALOCORTICOID ACCESS SYNDROME

    Dspace Repository (Marmara Üniversitesi), 2017

    Source : OpenAlex