Travaux scientifiques

Prof. Dr. Tülay Güran

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

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  1. Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

    Dspace Repository (Marmara Üniversitesi), 2016

    Source : OpenAlex

  2. The hypothalamo-pituitary-adrenal axis and its regulation

    2016

    Source : OpenAlex

  3. Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome

    Endocrine Abstracts, 2016

    DOI 10.1530/endoabs.45.oc5.3 Source : OpenAlex

  4. Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children

    Hormone Research in Paediatrics, 2015

    DOI 10.1159/000369395 PMID 25676144 24 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  5. Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours

    Pediatric Obesity, 2015

    DOI 10.1111/ijpo.12076 PMID 26463004 14 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  6. Growth without growth hormone syndrome in a patient with craniopharyngioma

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2015

    1 citation (OpenAlex) Source : OpenAlex

  7. Factors Effecting Response to Growth Hormone Treatment in Children with Turner Syndrome

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  8. Follow-up of two cases of medulloblastoma with/without growth hormone therapy

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2015

    Source : OpenAlex

  9. Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  10. Aetiological Spectrum and Clinical Characteristics of 129 Children with Gonadotropin Independent Precocious Puberty: A Nationwide Cohort Study

    54th Annual ESPE, 2015

    Source : OpenAlex

  11. Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  12. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

    The Journal of Clinical Endocrinology & Metabolism, 2015

    DOI 10.1210/jc.2015-3250 PMID 26523528 130 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  13. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

    American Journal of Medical Genetics Part A, 2015

    DOI 10.1002/ajmg.a.37029 PMID 25808063 67 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  14. Effect of maternal factors and fetomaternal glucose homeostasis on birth weight and postnatal growth

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2015

    DOI 10.4274/jcrpe.1914 PMID 26831549 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  15. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Neuron, 2015

    DOI 10.1016/j.neuron.2015.09.048 PMID 26539891 273 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  16. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

    Journal of Clinical Endocrinology and Metabolism, 2015

    DOI 10.1210/jc.2015-1150 PMID 25774885 28 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  17. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency

    Sexual Development, 2015

    DOI 10.1159/000375183 PMID 25765894 12 citations (Europe PMC) Source : ORCID

  18. Reference values for serum dehydroepiandrosterone-sulphate in healthy children and adolescents with emphasis on the age of adrenarche and pubarche

    Clinical Endocrinology, 2015

    DOI 10.1111/cen.12612 PMID 25208296 34 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  19. Response to the Letter to the Editor Regarding the Article: Reference values for serum dehydroepiandrosterone-sulphate in healthy children and adolescents with emphasis on the age of adrenarche and pubarche

    Clinical Endocrinology, 2015

    DOI 10.1111/cen.12718 PMID 25640604 Texte intégral en libre accèsSource : ORCID

  20. Birth Weight in Different Aetiologies of Disorder of Sex Development

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  21. A Novel Mutation (c.delG209) in the Proopiomelanocortin Gene in a Child with Early-onset Obesity

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  22. Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  23. A novel animal model to explore the whole-organism response to 21-hydroxylase deficiency

    Endocrine Abstracts, 2015

    DOI 10.1530/endoabs.38.p388 Texte intégral en libre accèsSource : OpenAlex

  24. Effects of leukemia inhibitory receptor gene mutations on human hypothalamo–pituitary–adrenal function

    Pituitary, 2014

    DOI 10.1007/s11102-014-0594-5 PMID 25145448 6 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  25. Higher insulin detemir doses are required for the similar glycemic control: comparison of insulin detemir and glargine in children with type 1 diabetes mellitus

    Pediatric Diabetes, 2014

    DOI 10.1111/pedi.12167 PMID 25039448 16 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  26. Final Height in Girls with Idiopathic Central Precocious Puberty Treated with GNRH Analog: Comparison with Untreated Controls

    53rd ESPE Meeting, 2014

    1 citation (OpenAlex) Source : OpenAlex

  27. Hypoglycemia: An unrecognized problem in cystic fibrosis (CF) patients unmasked by continues glucose monitorisation (CGM)

    European Respiratory Journal, 2014

    DOI 10.1183/13993003/erj.44.suppl_58.p1216 1 citation (OpenAlex) Source : OpenAlex

  28. Younger Age and BMI [gt]3SD are Risk Factors for Mortality in Children with Hypothalamic Obesity

    ESPE 2014, 2014

    Source : OpenAlex

  29. Eleven Years of Letrozole Treatment in a Child with 11-[beta] Hydroxylase Deficiency: Effect on Bone Age and Height Prognosis

    53rd ESPE Meeting, 2014

    Source : OpenAlex

  30. Hyperthyroidism Due to TSH Secreting Pituitary Adenoma in a 7-Year-Old Boy

    53rd ESPE Meeting, 2014

    Source : OpenAlex

  31. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

    Orphanet Journal of Rare Diseases, 2014

    DOI 10.1186/1750-1172-9-60 PMID 24767306 31 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  32. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

    Andrology, 2014

    DOI 10.1111/j.2047-2927.2014.00215.x PMID 24737579 43 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  33. The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients

    Annals of Human Genetics, 2014

    DOI 10.1111/ahg.12083 PMID 25227725 9 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  34. Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

    OpenAlex, 2014

    DOI 10.60692/sqb26-rt182 Source : ORCID

  35. Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

    OpenAlex, 2014

    DOI 10.60692/k0w6n-h5z47 Source : ORCID

  36. Changes over time in sex assignment for disorders of sex development

    Pediatrics, 2014

    DOI 10.1542/peds.2014-1088 PMID 25092939 69 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  37. Insulin receptor and the kidney: Nephrocalcinosis in patients with recessive INSR mutations

    Nephron - Physiology, 2014

    DOI 10.1159/000366225 PMID 25358339 17 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  38. Novel associations in disorders of sex development: Findings from the I-DSD registry

    Journal of Clinical Endocrinology and Metabolism, 2014

    DOI 10.1210/jc.2013-2918 PMID 24302751 75 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  39. Stuve-Wiedemann syndrome: Is it underrecognized?

    American Journal of Medical Genetics, Part A, 2014

    DOI 10.1002/ajmg.a.36626 PMID 24988918 13 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  40. Adrenal Rest Tumors in Patients with Primary Adrenal Insufficiency

    ESPE 2014, 2014

    Source : OpenAlex

  41. Identification of a Novel Large CYP17A1 Deletion by Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Classic 17-Hydroxylase Deficiency

    ESPE 2014, 2014

    Source : OpenAlex

  42. Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis

    The Journal of Clinical Endocrinology & Metabolism, 2013

    DOI 10.1210/jc.2013-2619 PMID 24248179 37 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  43. Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1

    European Journal of Endocrinology, 2013

    DOI 10.1530/eje-12-1000 PMID 23416952 22 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  44. Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

    European Journal of Pediatrics, 2012

    DOI 10.1007/s00431-012-1868-4 PMID 23093139 7 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  45. Effect of Breastfeeding on Serum Zinc Levels and Growth in Healthy Infants

    Breastfeeding Medicine, 2012

    DOI 10.1089/bfm.2012.0014 PMID 23046225 4 citations (Europe PMC) Source : OpenAlex

  46. Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: Novel mutations in TRPM6 and CLDN16 genes

    Nephrology Dialysis Transplantation, 2012

    DOI 10.1093/ndt/gfr300 PMID 21669885 25 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  47. Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy

    European Journal of Endocrinology, 2012

    DOI 10.1530/eje-11-0140 PMID 22004907 27 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  48. A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2012

    DOI 10.4274/jcrpe.685 PMID 22664361 9 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  49. An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations inMC2R(T152K) andMC1R(R160W)

    The Journal of Clinical Endocrinology & Metabolism, 2012

    DOI 10.1210/jc.2011-2414 PMID 22337906 31 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  50. A rare cause of a relatively common neonatal emergency

    Pediatric Hematology and Oncology, 2012

    DOI 10.3109/08880018.2011.630441 PMID 22303931 Source : ORCID