Prof. Dr. Tülay Güran

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Genetics in Medicine, 2018

DOI 10.1038/gim.2017.163 PMID 29261182 25 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Human Molecular Genetics, 2018

DOI 10.1093/hmg/ddy098 PMID 29566152 52 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Primary adrenal insufficiency in children: Diagnosis and management

Best Practice and Research: Clinical Endocrinology and Metabolism, 2018

DOI 10.1016/j.beem.2018.05.010 PMID 30086866 52 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

An 18 Month Old Boy with Hypoglycemic Convulsion and Obesity Due to POMC Deficiency

Dspace Repository (Marmara Üniversitesi), 2018

1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

Endocrine Abstracts, 2018

DOI 10.1530/endoabs.58.p005 Kaynak: OpenAlex

Gonadectomy for adults with DSD conditions at risk of hypogonadism in the international disorders of sex development registry

Endocrine Abstracts, 2018

DOI 10.1530/endoabs.59.p181 Kaynak: OpenAlex

Presenting Features, Clinical Characteristics and Follow up of Familial Isolated Glucocorticoid Deficiency (FGD) due to Mutations in MC2R and MRAP Genes

Dspace Repository (Marmara Üniversitesi), 2018

Açık erişimli tam metinKaynak: OpenAlex

Isolated Congenital Central Hypothyroidism due to a Novel Mutation in TSH Beta Subunit Gene

Dspace Repository (Marmara Üniversitesi), 2018

Açık erişimli tam metinKaynak: OpenAlex

Persistent Mullerian Duct Syndrome: Rare But Important Aetiology of an Inguinal Hernia and Cryptorchidism in Boys

Dspace Repository (Marmara Üniversitesi), 2018

Kaynak: OpenAlex

Gonadectomy for Adults with DSD Conditions in the International Disorders of Sex Development Registry

Dspace Repository (Marmara Üniversitesi), 2018

Açık erişimli tam metinKaynak: OpenAlex

Delayed Diagnosis of a Patient with Antley-Bixler Syndrome

Dspace Repository (Marmara Üniversitesi), 2018

Açık erişimli tam metinKaynak: OpenAlex

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

Dspace Repository (Marmara Üniversitesi), 2018

Açık erişimli tam metinKaynak: OpenAlex

An Unusual Cause of Short Stature

Dspace Repository (Marmara Üniversitesi), 2018

Açık erişimli tam metinKaynak: OpenAlex

Steroid Metabolomics : A Powerful Technique for Differentiating Inborn Disorders of Steroidogenesis

University of Groningen research database (University of Groningen / Centre for Information Technology), 2018

Kaynak: OpenAlex

Türkiyede Konjenital Adrenal Hiperplazi Yenidoğan Taraması

AYBU AVESIS, 2018

Kaynak: OpenAlex

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 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

A RARE ENDOCRINE CAUSE OF HYPERTENSION: APPARENT MINERALOCORTICOID ACCESS SYNDROME

Dspace Repository (Marmara Üniversitesi), 2017

Kaynak: OpenAlex

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

Bursa Uludag University - AVESIS, 2017

Kaynak: OpenAlex

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

Bursa Uludag University - AVESIS, 2017

Kaynak: OpenAlex

Aldosterone synthase deficiency:a new mutation

Dspace Repository (Marmara Üniversitesi), 2017

Açık erişimli tam metinKaynak: OpenAlex

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients

Journal of Pediatric and Adolescent Gynecology, 2017

DOI 10.1016/j.jpag.2017.01.011 PMID 28167139 19 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Birth weight in different etiologies of disorders of sex development

Journal of Clinical Endocrinology and Metabolism, 2017

DOI 10.1210/jc.2016-3460 PMID 28359094 19 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

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 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia

Endocrinology, 2017

DOI 10.1210/en.2017-00549 PMID 28938470 24 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children

JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2017

DOI 10.4274/jcrpe.2017.s002 PMID 29280740 22 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Journal of Clinical Investigation, 2017

DOI 10.1172/jci90171 PMID 28165343 126 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Familial Glucocorticoid Defificiency in a Newborn Caused by a Mutation in Melanocortin 2 Receptor: Case Report

Turkiye Klinikleri Journal of Case Reports, 2017

DOI 10.5336/caserep.2016-54142 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Steroid metabolomics for accurate and rapid diagnosis of inborn steroidogenic disorders

Endocrine Abstracts, 2017

DOI 10.1530/endoabs.49.oc1.3 3 atıf (OpenAlex) Kaynak: OpenAlex

MAPPING THE STEROID METABOLOME IN INBORN STEROIDOGENIC DISORDERS: PERFORMANCE OF A NOVEL COMPUTATIONAL APPROACH IN COMPARISON TO CONVENTIONAL GC-MS ANALYSIS

Dspace Repository (Marmara Üniversitesi), 2017

Açık erişimli tam metinKaynak: OpenAlex

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Endocrine Abstracts, 2017

DOI 10.1530/endoabs.50.oc4.1 Kaynak: OpenAlex

CYP11A1 MUTATIONS RESULT VARIOUS CLINICAL PHENOTYPES

Dspace Repository (Marmara Üniversitesi), 2017

Açık erişimli tam metinKaynak: OpenAlex

SIMULTANEOUS PROFILING OF 17 STEROID HORMONES USING LIQUID CHROMATOGRAPHY TANDEM MASS SPECTROMETRY IN NEWBORN AND EARLY INFANCY

Dspace Repository (Marmara Üniversitesi), 2017

Açık erişimli tam metinKaynak: OpenAlex

17- hydroxylase deficiency: rare cause of delayed puberty

Dspace Repository (Marmara Üniversitesi), 2017

Açık erişimli tam metinKaynak: OpenAlex

Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females

Pediatric Diabetes, 2016

DOI 10.1111/pedi.12470 PMID 27873431 24 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

GCK gene mutations are a common cause of childhood‐onset MODY (maturity‐onset diabetes of the young) in Turkey

Clinical Endocrinology, 2016

DOI 10.1111/cen.13121 PMID 27256595 18 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Dspace Repository (Marmara Üniversitesi), 2016

DOI 10.5072/zenodo.15248 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

Dspace Repository (Marmara Üniversitesi), 2016

Açık erişimli tam metinKaynak: OpenAlex

[beta]-hCG from an Occult Source Causing Peripheral Precocious Puberty: Identification of the Tumour 6 Years After Presentation

Dspace Repository (Marmara Üniversitesi), 2016

Açık erişimli tam metinKaynak: OpenAlex

The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study

The Journal of Clinical Endocrinology & Metabolism, 2016

DOI 10.1210/jc.2015-3500 PMID 26964727 18 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

Premature pubarche, hyperinsulinemia, hypothyroxinemia and hyperintensities in basal ganglia: All caused by a single congenital defect

JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2016

Kaynak: ORCID

The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene

Journal of Clinical Endocrinology and Metabolism, 2016

DOI 10.1210/jc.2016-1372 PMID 27403927 69 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH - On Behalf of the I-CAH/I-DSD Registry User Group

Data Archiving and Networked Services (DANS), 2016

1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Adrenal crisis and sick day episodes among CAH patients: preliminary report based on international CAH (I-CAH) registry

Endocrine Abstracts, 2016

DOI 10.1530/endoabs.41.ep14 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

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.44.oc1.1 1 atıf (OpenAlex) Kaynak: OpenAlex

A Novel Animal Model to Study 21-Hydroxylase Deficiency in vivo

55th ESPE Meeting, 2016

Kaynak: OpenAlex

Steroid metabolomics for diagnosis of inborn steroidogenic disorders - bridging the gap between clinician and scientist through computational approaches

Endocrine Abstracts, 2016

DOI 10.1530/endoabs.44.p40 Açık erişimli tam metinKaynak: OpenAlex

A multicenter study on long-term outcomes in 59 males with 45,X/46,XY mosaicism

Dspace Repository (Marmara Üniversitesi), 2016

DOI 10.13140/rg.2.2.19917.64487 Açık erişimli tam metinKaynak: OpenAlex

Reconsideration of Mid-Parental Height Calculation

Dspace Repository (Marmara Üniversitesi), 2016

Açık erişimli tam metinKaynak: OpenAlex

Thiamine Responsive Megaloblastic Anemia Due to SLCA19A2 Gene Mutation: Another Cause of Neonatal Diabetes with Succcesfull Switch from Insulin to Thiamine

Dspace Repository (Marmara Üniversitesi), 2016

Açık erişimli tam metinKaynak: OpenAlex

Precocious Puberty in Patients with Primary Adrenal Insufficiency due to Melanocortın Receptor 2 Mutation

55th ESPE Meeting, 2016

Kaynak: OpenAlex