Travaux scientifiques

Doç. Dr. Zehra Yavaş Abalı

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

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

    Clinical Endocrinology, 2026

    DOI 10.1111/cen.70126 PMID 41800491 Source : OpenAlex

  2. BMI-SDS Changes During GnRHa Therapy in 150 Girls with Idiopathic Central Precocious Puberty: Follow-up Through Final Height

    Journal of clinical research in pediatric endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2026.2026-3-6 PMID 42028850 1 citation (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  3. Response to Letter to the Editor from Ting and Chen: “Impact of Growth-Promoting Therapies on Puberty, Growth, and Final Height in Classical 21-Hydroxylase Deficiency”

    The Journal of Clinical Endocrinology & Metabolism, 2026

    DOI 10.1210/clinem/dgag029 PMID 41711662 Source : ORCID

  4. Adrenal androgens as predictors of growth characteristics in premature pubarche

    European journal of endocrinology, 2026

    DOI 10.1093/ejendo/lvag024 PMID 41637567 1 citation (Europe PMC) Source : Europe PMC

  5. Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study

    European journal of endocrinology, 2026

    DOI 10.1093/ejendo/lvag004 PMID 41531283 1 citation (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  6. How Accurate is Self-Reported Parental Height? Evidence From a Tertiary Pediatric Endocrinology

    Southern Clinics of Istanbul Eurasia, 2026

    DOI 10.14744/scie.2026.51333 Texte intégral en libre accèsSource : OpenAlex

  7. Off-Label Use of Teriparatide for Osteotomy Healing in an Adolescent with Osteogenesis Imperfecta Type VIII: A Case Report

    Journal of Clinical Research in Pediatric Endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2026.2026-3-21 PMID 42484024 Texte intégral en libre accèsSource : OpenAlex

  8. Functional Impact of a Novel Intronic TG Variant in Congenital Goiter and Thyroid Dyshormonogenesis

    Hormone Research in Paediatrics, 2026

    DOI 10.1159/000553376 PMID 42378173 Source : ORCID

  9. Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study

    Sexual Development, 2026

    DOI 10.1159/000550371 PMID 41493898 Texte intégral en libre accèsSource : ORCID

  10. Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study

    Yearbook of pediatric endocrinology, 2026

    DOI 10.1530/ey.23.13.14 Source : OpenAlex

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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) Texte intégral en libre accèsSource : Europe PMC

  18. Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns

    Journal of clinical research in pediatric endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2024.2024-6-10-s PMID 39713885 1 citation (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  19. 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

  20. 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

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

    Hormone Research in Paediatrics, 2024

    DOI 10.1159/000542307 PMID 39496238 Texte intégral en libre accèsSource : OpenAlex

  22. Development of external genitalia during mini-puberty: Is it related to somatic growth or pubertal hormones?

    Global Pediatrics, 2024

    DOI 10.1016/j.gpeds.2024.100155 Texte intégral en libre accèsSource : OpenAlex

  23. Prolactin Elevation Due to Heterophile Antibody Interference in Pituitary Deficiency

    Turkish Society of Clinical Biochemistry, 2024

    DOI 10.56615/tkbd.2024.17 Texte intégral en libre accèsSource : ORCID

  24. Diagnosis and management of non-CAH 46,XX disorders/differences in sex development

    Frontiers in Endocrinology, 2024

    DOI 10.3389/fendo.2024.1354759 PMID 38812815 12 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  25. Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022

    Journal of the Endocrine Society, 2024

    DOI 10.1210/jendso/bvae145 PMID 39258010 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  26. 8568 Prevalence of Raised Blood Pressure in Individuals With 46,XY DSD: an I-DSD Registry study

    Journal of the Endocrine Society, 2024

    DOI 10.1210/jendso/bvae163.1743 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  27. 8568 Prevalence of Raised Blood Pressure in Individuals With 46,XY DSD: an I-DSD Registry study

    Journal of the Endocrine Society, 2024

    DOI 10.1210/jendso/bvae163.1656 Texte intégral en libre accèsSource : OpenAlex

  28. A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

    Journal of Pediatric Hematology/Oncology, 2024

    DOI 10.1097/mph.0000000000002839 PMID 38408162 1 citation (OpenAlex) Source : OpenAlex

  29. 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

  30. 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

  31. 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) Texte intégral en libre accèsSource : Europe PMC

  32. 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) Texte intégral en libre accèsSource : OpenAlex

  33. Decline in the Age of Menarche in Istanbul Schoolgirls Over the Last 12 Years

    Journal of clinical research in pediatric endocrinology, 2023

    DOI 10.4274/jcrpe.galenos.2023.2022-11-16 PMID 36700465 5 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  34. Development of external genitalia during mini-puberty: is it related to somatic growth or reproductive hormones?

    European Journal of Pediatrics, 2023

    DOI 10.1007/s00431-023-05393-3 PMID 38133811 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  35. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

    European journal of endocrinology, 2023

    DOI 10.1093/ejendo/lvad143 PMID 37837609 10 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  36. Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty

    Journal of Pediatric Endocrinology and Metabolism, 2023

    DOI 10.1515/jpem-2022-0645 PMID 36883204 7 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  37. Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment

    Hormone Research in Paediatrics, 2023

    DOI 10.1159/000534456 PMID 37906994 1 citation (Europe PMC) Texte intégral en libre accèsSource : ORCID

  38. Abstracts of the ESPE 61 Annual Society Meeting

    Hormone Research in Paediatrics, 2023

    DOI 10.1159/000533803 PMID 37725926 36 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  39. The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia

    Endocrine Abstracts, 2023

    DOI 10.1530/endoabs.90.oc5.2 1 citation (OpenAlex) Source : OpenAlex

  40. Evaluation of Children with Secondary Osteoporosis: A Single-center Experience

    Bakirkoy Tip Dergisi / Medical Journal of Bakirkoy, 2023

    DOI 10.4274/bmj.galenos.2023.2023.1-12 Texte intégral en libre accèsSource : ORCID

  41. Long-Term Endocrinologic Follow-Up of Children with Brain Tumors and Comparison of Growth Hormone Therapy Outcomes: A SingleCenter Experience

    Turkish Archives of Pediatrics, 2023

    DOI 10.5152/turkarchpediatr.2023.22147 PMID 37144265 7 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  42. Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency

    Hormone Research in Paediatrics, 2023

    DOI 10.1159/000531113 PMID 37315542 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  43. Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome

    Clinical Genetics, 2023

    DOI 10.1111/cge.14320 PMID 36843439 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  44. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

    Yearbook of pediatric endocrinology, 2022

    DOI 10.1530/ey.19.6.5 Source : OpenAlex

  45. 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

  46. Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2022

    DOI 10.4274/jcrpe.galenos.2021.2021.0113 PMID 34355879 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  47. Evaluation of Complications Associated with Cardiac Catheterization: A Single-center Experience

    Trends in Pediatrics, 2022

    DOI 10.4274/tp.2022.46330 2 citations (OpenAlex) Texte intégral en libre accèsSource : ORCID

  48. The Role of Parvovirus-B19 in Autoimmune Thyroiditis in Adolescent Children

    Online Türk Sağlık Bilimleri Dergisi, 2022

    DOI 10.26453/otjhs.1127928 Texte intégral en libre accèsSource : ORCID

  49. Comparison of National Growth Standards for Turkish Infants and Children with World Health Organization Growth Standards

    Journal of clinical research in pediatric endocrinology, 2022

    DOI 10.4274/jcrpe.galenos.2022.2021-9-10 PMID 35135183 6 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  50. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

    Journal of clinical research in pediatric endocrinology, 2022

    DOI 10.4274/jcrpe.galenos.2022.2021-9-19 PMID 35135181 9 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC