T. Akçay

发表

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

A. Green, M. Weedon, M. O'sullivan, 2013, American journal of human genetics.

Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism

M. Weger, F. Müller, T. Dickmeis, 2018, EBioMedicine.

The Frequency and the Effects of 21‐Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients

F. Eren, T. Akçay, A. Bereket, 2014, Annals of human genetics.

Effects of ACE Inhibitors on Insulin Resistance and Lipid Profile in Children with Metabolic Syndrome

T. Akçay, Eda Çelebi Bitkin, M. Boyraz, 2013, Journal of clinical research in pediatric endocrinology.

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

S. Poyrazoglu, F. Baş, F. Darendeliler, 2018, Journal of clinical research in pediatric endocrinology.

Evaluation of Diagnosis and Treatment Results in Children with Graves' Disease with Emphasis on the Pubertal Status of Patients

S. Poyrazoglu, F. Baş, T. Akçay, 2008, Journal of pediatric endocrinology & metabolism : JPEM.

Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross‐sectional study

Z. Aycan, N. Gungor, H. Onal, 2019, Diabetic medicine : a journal of the British Diabetic Association.

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

M. Fernández-Cancio, L. Audí, T. Akçay, 2014, Andrology.

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

H. Jüppner, M. Bastepe, T. Akçay, 2010, Bone.

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

A. Hattersley, S. Ellard, A. Slavotinek, 2015, The Journal of clinical endocrinology and metabolism.

Mutations and Nucleotide Changes Relating to Mutations in GLIS 3

A. Hattersley, S. Ellard, A. Slavotinek, 2015 .

Alendronate treatment in children with osteogenesis imperfecta.

T. Akçay, A. Bereket, S. Turan, 2008, Indian pediatrics.

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

S. O’Rahilly, F. Reimann, F. Gribble, 2009, The Journal of clinical endocrinology and metabolism.

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation

S. Ellard, E. De Franco, H. Onal, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Circulating Insulin-like Growth Factor Binding Protein-4 (IGFBP-4) is not Regulated by Parathyroid Hormone and Vitamin D in vivo: Evidence from Children with Rickets

B. Özkan, T. Akçay, E. Adal, 2010, Journal of clinical research in pediatric endocrinology.

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

F. Baş, Z. Aycan, B. Yuksel, 2015, The Journal of clinical endocrinology and metabolism.

Retrospective Analysis of Cases with Premature Thelarche

T. Akçay, H. Kıhtır, 2020, Bagcilar Medical Bulletin.

Investigation of the MMP 1 and MMP 3 promoter polymorphisms in temporomandibular joint disorder

Ulucan, Arzu, Necati, 2011 .

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

B. Özkan, T. Akçay, Y. Alanay, 2014, Orphanet Journal of Rare Diseases.

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

M. Nistal, C. Flück, A. Pandey, 2012, The Journal of clinical endocrinology and metabolism.

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

M. Konrad, T. Akçay, K. Schlingmann, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia : novel mutations in TRPM 6 and CLDN 16 genes

M. Konrad, T. Akçay, K. Schlingmann, 2012 .

Serum Alkaline Phosphatase Levels in Healthy Children and Evaluation of Alkaline Phosphatasez-scores in Different Types of Rickets

T. Akçay, İ. Gökçe, A. Bereket, 2011, Journal of clinical research in pediatric endocrinology.

Revisiting classical 3β-hydroxysteroid dehydrogenase 2 deficiency: lessons from 31 pediatric cases.

K. Storbeck, H. Onal, T. Akçay, 2020, The Journal of clinical endocrinology and metabolism.

Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.

R. Auchus, T. Akçay, A. Bereket, 2008, European journal of endocrinology.

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

H. Jüppner, M. Bastepe, T. Akçay, 2010, European journal of endocrinology.

Transient Neonatal Diabetes Mellitus in a Turkish Patient with Three Novel Homozygous Variants in the ZFP57 Gene

S. Flanagan, D. Mackay, T. Akçay, 2013, Journal of clinical research in pediatric endocrinology.

Pediatricians’ COVID-19 experiences and views on the willingness to receive COVID-19 vaccines: a cross-sectional survey in Turkey

T. Akçay, O. Yeşilbaş, T. Tunç, 2021, Human vaccines & immunotherapeutics.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

M. Konrad, E. Levtchenko, C. Wagner, 2016, Journal of the American Society of Nephrology : JASN.

Association Between Endocrine Diseases and Serous Otitis Media in Children

T. Akçay, G. Özkaya, S. Üstün Bezgin, 2017, Journal of clinical research in pediatric endocrinology.

Significance of acanthosis nigricans in childhood obesity

T. Akçay, A. Bereket, S. Turan, 2008, Journal of paediatrics and child health.

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

A. Hattersley, S. Ellard, A. Gloyn, 2014, Human molecular genetics.

Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

S. Ellard, A. Patch, S. Flanagan, 2011, The Journal of clinical endocrinology and metabolism.

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

S. Ellard, A. Heslegrave, S. Flanagan, 2012, Orphanet Journal of Rare Diseases.

Genetics of Sleep and Sleep Disorders

T. Akçay, K. Ulucan, D. Kıraç, 2020, Neurological Modulation of Sleep.

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion.

T. Akçay, Á. Campos-Barros, K. Heath, 2013, European journal of medical genetics.

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

S. Ellard, N. Murphy, S. Flanagan, 2010, European journal of endocrinology.

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

T. Akçay, E. Adal, F. Dede, 2012, European journal of endocrinology.

Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey

S. Poyrazoglu, F. Darendeliler, S. Kurtoğlu, 2015, Journal of clinical research in pediatric endocrinology.

Distribution of α-actinin-3 rs1815739 and angiotensin-1 converting enzyme InDel polymorphisms in Turkish bodybuilders

M. Dogan, T. Akçay, K. Ulucan, 2020, Biomedical reports.

Non-alcoholic fatty liver disease in obese children and the relationship between metabolic syndrome criteria.

T. Akçay, N. Hatipoğlu, M. Boyraz, 2014, Obesity research & clinical practice.

The Use of Social Network in Daily Pediatric Practice and Education: Turkish Pediatric Atelier

A. Anarat, T. Akçay, O. Yeşilbaş, 2020, International Journal of Pediatrics.

Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet–Biedl syndrome

T. Akçay, G. Ekinci, A. Bereket, 2011, Clinical dysmorphology.

Transient Neonatal Diabetes Mellitus with Maternal Methylation Loss

T. Akçay, Ali Bülbül, Ebru Türkoğlu Ünal, 2015 .

Is Metabolic Syndrome Associated with Obstructive Sleep Apnea in Obese Adolescents?

O. Erdur, T. Akçay, R. Yılmazer, 2015, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

T4 plus T3 Treatment in Children with Hypothyroidism and Inappropriately Elevated Thyroid-Stimulating Hormone despite Euthyroidism on T4 Treatment

T. Akçay, Goksenin Unluguzel, A. Bereket, 2010, Hormone Research in Paediatrics.

Regional dispersion of non-syndromic cleft lip with/without palate Turkish children patients and possible geographical effects

T. Akçay, Burak Ersoy, K. Ulucan, 2012 .

The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children

F. Baş, F. Darendeliler, H. Onal, 2009, European Journal of Pediatrics.

Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

N. Özdemir, T. Akçay, Y. Yılmaz, 2008, Journal of clinical research in pediatric endocrinology.

Erratum: Expanding the clinical spectrum associated with GLIS3 mutations (The Journal of Clinical Endocrinology & Metabolism (2015) 100:10 (E1362-E1369) DOI: 10.1210/jc.2015-1827)

A. Hattersley, S. Ellard, A. Slavotinek, 2015 .

Content analysis of food advertising in Turkish television

T. Akçay, Abdulaziz Majid, A. Bereket, 2010, Journal of paediatrics and child health.

Congenital Hyperinsulinism and Cardiomyopathy

T. Akçay, K. Ulucan, D. Kıraç, 2012, Fetal and pediatric pathology.

Coding Regions of MSX1 Do Not Contribute to Non-Syndromic Cleft Lip With/Without Palate in Turkish Patients

M. Konuk, T. Akçay, B. Aksoy, 2014 .