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. Severe Hypercalcemia in an Infant with Subcutaneous Fat Necrosis: Successful Management with Bisphosphonate Treatment

    Çocuk Dergisi / Journal of Child, 2022

    DOI 10.26650/jchild.2022.833032 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  2. 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

  3. 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

  4. A rare cause of hypercalcemia: Congenital Lactase Deficiency

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

    Source : OpenAlex

  5. Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency

    The Journal of Clinical Endocrinology & Metabolism, 2021

    DOI 10.1210/clinem/dgab225 PMID 33830237 28 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  6. Evaluation of the Efficacy and Safety of 3 Different Management Protocols in Pediatric Diabetic Ketoacidosis

    Pediatric Emergency Care, 2021

    DOI 10.1097/pec.0000000000001770 PMID 30907846 5 citations (Semantic Scholar) Source : ORCID

  7. 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

  8. Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature

    Calcified Tissue International, 2021

    DOI 10.1007/s00223-020-00784-2 PMID 33386952 20 citations (Europe PMC) Source : ORCID

  9. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

    Hormone Research in Paediatrics, 2021

    DOI 10.1159/000515079 PMID 33780934 18 citations (Europe PMC) Source : ORCID

  10. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: Data from the I-CAH registry

    European Journal of Endocrinology, 2021

    DOI 10.1530/eje-20-1249 PMID 33460392 26 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  11. Prenatal diagnosis and treatment in congenital adrenal hyperplasia

    Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia, 2021

    DOI 10.1007/978-3-030-82591-1_9 2 citations (OpenAlex) Source : ORCID

  12. 46,XY DSD due to biallelic DHX37 gene mutations

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

    Source : OpenAlex

  13. Correlation of 11-oxygenated C19 androgens with the clinical and biochemical characteristics in premature adrenarche

    2021

    Source : OpenAlex

  14. The Spectrum From Classic to Non-Classic 11β-Hydroxylase Deficiency

    SSRN Electronic Journal, 2020

    DOI 10.2139/ssrn.3712924 Texte intégral en libre accèsSource : OpenAlex

  15. 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) Texte intégral en libre accèsSource : OpenAlex

  16. A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

    Calcified Tissue International, 2020

    DOI 10.1007/s00223-020-00694-3 PMID 32337609 14 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  17. Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

    Hormone Research in Paediatrics, 2020

    DOI 10.1159/000502114 PMID 31461705 8 citations (Europe PMC) Source : ORCID

  18. Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty

    Hormone Research in Paediatrics, 2020

    DOI 10.1159/000505329 PMID 31972562 8 citations (Europe PMC) Source : ORCID

  19. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers

    Pediatric Nephrology, 2020

    DOI 10.1007/s00467-019-04352-1 PMID 31529157 5 citations (Europe PMC) Source : ORCID

  20. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions

    Pediatric Nephrology, 2020

    DOI 10.1007/s00467-019-04351-2 PMID 31529153 1 citation (Europe PMC) Source : ORCID

  21. 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

  22. 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

  23. A rare cause of hypertension in childhood: Questions

    Pediatric Nephrology, 2019

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

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

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  25. 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

  26. 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

  27. A Case Of Syndromic Hypopituitarism

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  28. Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

    Sexual Development, 2019

    DOI 10.1159/000510466 PMID 32961540 7 citations (OpenAlex) Source : OpenAlex

  29. Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature

    Hormones, 2019

    DOI 10.1007/s42000-019-00096-7 PMID 30747411 9 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  30. Global practice of glucocorticoid and mineralocorticoid treatment in children and adults with congenital adrenal hyperplasia - insights from the I-CAH registry

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  31. Exploring trends in the glucocorticoid and mineralocorticoid treatment of congenital adrenal hyperplasia by analysing data from the I-CAH registry

    Endocrine Abstracts, 2019

    DOI 10.1530/endoabs.66.oc1.1 Source : OpenAlex

  32. A rare cause of hypophosphatemia: Raine Syndrome

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  33. Simplifying the Interpretation of Steroid Metabolome Data by a Machine-Learning Approach

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  34. Evaluation of Brain Mri Lesions in 381 Girls with Central Precocious Puberty

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  35. Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA

    Dspace Repository (Marmara Üniversitesi), 2019

    Texte intégral en libre accèsSource : OpenAlex

  36. Comparison of the Clinical and Anthropometric Features of Treated and Untreated Girls with Borderline Early Puberty

    Journal of Pediatric and Adolescent Gynecology, 2019

    DOI 10.1016/j.jpag.2019.01.003 PMID 30633979 9 citations (OpenAlex) Source : OpenAlex

  37. Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source : OpenAlex

  38. 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

  39. Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey

    Journal of Endocrinological Investigation, 2018

    DOI 10.1007/s40618-018-0940-y PMID 30132287 21 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

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

    57th Annual ESPE, 2018

    1 citation (OpenAlex) Source : OpenAlex

  41. Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation

    Dspace Repository (Marmara Üniversitesi), 2018

    Texte intégral en libre accèsSource : OpenAlex

  42. Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms

    Hormones, 2018

    DOI 10.1007/s42000-018-0079-4 PMID 30460459 10 citations (Europe PMC) Source : ORCID

  43. A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

    Journal of Clinical Research in Pediatric Endocrinology, 2018

    DOI 10.4274/jcrpe.0032 PMID 29595516 38 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  44. Body mass index at the presentation of premature adrenarche is associated with components of metabolic syndrome at puberty

    European Journal of Pediatrics, 2018

    DOI 10.1007/s00431-018-3211-1 PMID 30056577 32 citations (OpenAlex) Source : OpenAlex

  45. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

    The Journal of Steroid Biochemistry and Molecular Biology, 2018

    DOI 10.1016/j.jsbmb.2018.04.001 PMID 29626607 35 citations (OpenAlex) Source : OpenAlex

  46. Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience

    57th Annual ESPE, 2018

    Source : OpenAlex

  47. PHENOTYPIC, HORMONAL AND MOLECULAR GENETIC CHARACTERISTICS OF 5-ALPHA REDUCTASE TYPE 2 DEFICIENCY PATIENTS: A MULTICENTER STUDY FROM TURKEY

    Bursa Uludag University - AVESIS, 2017

    Source : OpenAlex

  48. 5-alfa redüktaz tip 2 eksikliği tanılı olguların fenotipik, hormonal ve moleküler genetik özellikleri: Çok merkezli ulusal veriler

    Bursa Uludag University - AVESIS, 2017

    Source : OpenAlex

  49. Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

    Journal of Pediatric Endocrinology and Metabolism, 2017

    DOI 10.1515/jpem-2017-0088 PMID 28672743 17 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  50. Two novel mutations in XYLT2 cause spondyloocular syndrome

    American Journal of Medical Genetics Part A, 2017

    DOI 10.1002/ajmg.a.38470 PMID 28884924 28 citations (OpenAlex) Source : OpenAlex