H. Demirbilek

发表

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

F. Baş, F. Darendeliler, F. Demirel, 2016, American journal of medical genetics. Part A.

Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

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

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

F. Baş, F. Darendeliler, F. Demirel, 2015, Journal of clinical research in pediatric endocrinology.

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes

A. Çayır, Erdal Kurnaz, H. Demirbilek, 2019, Hormone Research in Paediatrics.

Reversible Dilated Cardiomyopathy Due to Combination of Vitamin D-Deficient Rickets and Primary Hypomagnesemia in an 11-Month-Old Infant.

B. Bayrakci, H. Demirbilek, Mehmet Gumustas, 2017, Journal of pediatric intensive care.

Turner Syndrome and Associated Problems in

F. Baş, F. Darendeliler, F. Demirel, 2015 .

Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient

H. Neumann, A. Alikaşifoğlu, H. Demirbilek, 2011, Journal of pediatric endocrinology & metabolism : JPEM.

Oncologic manifestations in children with neurofibromatosis type 1 in Turkey.

F. Incecik, H. Demirbilek, Serhan Küpeli, 2013, The Turkish journal of pediatrics.

Evaluation of psychological characteristics of Turkish children with type 1 diabetes mellitus from two demographically and geographically distinct regions.

M. N. Özbek, H. Demirbilek, M. Karakurt, 2018, The Turkish journal of pediatrics.

Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study.

Tolga Ünüvar, H. Sağlam, Ahmet Uçaktürk, 2016, Diabetes research and clinical practice.

Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency

A. Çayır, Erdal Kurnaz, H. Demirbilek, 2021, Cardiology in the Young.

A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio

H. Demirbilek, E. Unal, M. Demiral, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

S. Ellard, S. Flanagan, J. Houghton, 2018, Journal of Clinical Research in Pediatric Endocrinology.

Congenital Hyperinsulinism and Evolution to Sulfonylurea- responsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

S. Ellard, S. Flanagan, J. Houghton, 2018 .

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

M. Topcu, A. Alikaşifoğlu, Y. Alanay, 2012, Journal of clinical research in pediatric endocrinology.

Anemia and Neutropenic Fever with High Dose Diazoxide Treatment in a Case with Hyperinsulinism due to Munchausen by Proxy

N. Kandemir,, H. Demirbilek, A. Ozon, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

A. Topaloğlu, L. D. Kotan, E. Mengen, 2015, Clinical endocrinology.

The effects of the covid-19 pandemic on puberty: a cross-sectional, multicenter study from Turkey

A. Çayır, M. Ozbek, Ş. Hatun, 2022, Italian Journal of Pediatrics.

Vitamin D-deficient rickets mimicking ankylosing spondylitis in an adolescent girl.

H. Demirbilek, A. Ozön, Didem Aydoğdu, 2012, The Turkish journal of pediatrics.

Evaluation of serum kisspeptin levels in girls in the diagnosis of central precocious puberty and in the assessment of pubertal suppression

A. Alikaşifoğlu, H. Demirbilek, A. Ozon, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Revisiting the Annual Incidence of Type 1 Diabetes Mellitus in Children from the Southeastern Anatolian Region of Turkey: A Regional Report

M. N. Özbek, H. Demirbilek, Şervan Özalkak, 2022, Journal of clinical research in pediatric endocrinology.

Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life

K. Hussain, M. Ozbek, H. Demirbilek, 2020, Pediatric diabetes.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations

A. Hattersley, S. Ellard, S. Flanagan, 2015, European Journal of Endocrinology.

Persistent hyperinsulinaemic hypoglycaemia in infancy.

K. Hussain, H. Demirbilek, P. Shah, 2014, Seminars in pediatric surgery.

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations

A. Hattersley, A. Çayır, S. Flanagan, 2020, The Journal of clinical endocrinology and metabolism.

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.

Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide acetate injection

A. Alikaşifoğlu, H. Demirbilek, N. Gonc, 2012, Clinical endocrinology.

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

S. Ellard, S. Kurtoğlu, S. Flanagan, 2018, Pediatric diabetes.

Evaluation of vitamin D levels in patients with acute rheumatic fever

M. Yılmazer, H. Demirbilek, F. Demir, 2017, Anatolian journal of cardiology.

Hashimoto's Thyroiditis in Children and Adolescents: A Retrospective Study on Clinical, Epidemiological and Laboratory Properties of the Disease

N. Yordam,, A. Alikaşifoğlu, H. Demirbilek, 2007, Journal of pediatric endocrinology & metabolism : JPEM.

Hypoglycaemia and hypothermia due to nimesulide overdose

Ş. Olgar, H. Demirbilek, E. Yapakçı, 2001, Archives of disease in childhood.

Severe Hypercalcemia in a Child With Acute Lymphoblastic Leukemia Relapse: Successful Management With Combination of Calcitonin and Bisphosphonate.

H. Demirbilek, M. Çetin, F. Gumruk, 2016, Journal of pediatric hematology/oncology.

17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

O. Hiort, A. Alikaşifoğlu, H. Demirbilek, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency

M. N. Özbek, H. Demirbilek, E. Unal, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

GnRH Stimulation Test in Precocious Puberty: Single Sample is Adequate for Diagnosis and Dose Adjustment

A. Alikaşifoğlu, H. Demirbilek, N. Kandemir, 2011, Journal of clinical research in pediatric endocrinology.

Ion Transporters, Channelopathies, and Glucose Disorders

K. Hussain, H. Demirbilek, D. Vurallı, 2019, International journal of molecular sciences.

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

K. Hussain, H. Demirbilek, S. Galcheva, 2019, Front. Endocrinol..

Hyperinsulinaemic hypoglycaemia in children and adults.

K. Hussain, M. Güemes, S. Rahman, 2017, The lancet. Diabetes & endocrinology.

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.

K. Hussain, M. Ozbek, H. Demirbilek, 2014, The Journal of clinical endocrinology and metabolism.

Giant virilizing adrenocortical carcinoma in a girl presenting with mutism

H. Demirbilek, Serhan Küpeli, A. Baran, 2011 .

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

C. Durmaz, H. Demirbilek, S. Ceylaner, 2019, Journal of clinical research in pediatric endocrinology.

Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism

T. Soyer, H. Demirbilek, M. Tanyildiz, 2016, Annals of pediatric endocrinology & metabolism.

Assessment of thyroid function during the long course of Hashimoto's thyroiditis in children and adolescents

A. Alikaşifoğlu, H. Demirbilek, A. Ozon, 2009, Clinical endocrinology.

Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism

H. Demirbilek, E. Unal, M. Demiral, 2020, Journal of clinical research in pediatric endocrinology.

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.

Congenital Hyperinsulinism: Diagnosis and Treatment Update

K. Hussain, H. Demirbilek, 2017, Journal of clinical research in pediatric endocrinology.

Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age

H. Demirbilek, M. Atar, Tuğba Kontbay, 2022, Journal of pediatric endocrinology & metabolism : JPEM.

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

A. Çayır, K. Hussain, S. Rahman, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Multiple Pituitary Hormone Deficiency Due to Gunshot Injury in a 6-Year-Old Girl

H. Demirbilek, A. Baran, R. T. Baran, 2013, Journal of clinical research in pediatric endocrinology.

Clinical and hormonal profiles correlate with molecular characteristics in patients with 11β-hydroxylase deficiency.

F. Baş, F. Darendeliler, A. Çayır, 2021, The Journal of clinical endocrinology and metabolism.

Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy.

S. Ellard, S. Flanagan, K. Hussain, 2014, The Journal of clinical endocrinology and metabolism.

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

S. Ellard, F. Demirel, S. Flanagan, 2014, European journal of endocrinology.

Cystoscopy-Guided Laparoscopic Excision of Prostatic Utricle: Report of a Case

T. Soyer, H. Demirbilek, O. Boybeyi-Turer, 2020, European Journal of Pediatric Surgery Reports.

Continuous Hepatogonodal and Splenogonogal Fusion: A Rare Cause of Bilateral Intra-Abdominal Testis in an 18-Month-Old Boy

T. Soyer, H. Demirbilek, O. Boybeyi-Turer, 2022, European journal of pediatric surgery reports.

The role of the resistive index in Hashimoto's thyroiditis: a Sonographic pilot study in children

H. Demirbilek, N. Kandemir, D. Akata, 2012, Clinics.

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology

K. Hussain, S. Rahman, H. Demirbilek, 2017, International Journal of Pediatric Endocrinology.

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.

M. Losekoot, J. Wit, J. van Doorn, 2017, European journal of endocrinology.

Prepubertal Unilateral Gynecomastia: Report of 2 Cases

K. Hussain, Y. Alanay, H. Demirbilek, 2014, Journal of clinical research in pediatric endocrinology.

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I

K. Hussain, M. Ozbek, H. Demirbilek, 2015, Hormone Research in Paediatrics.

Incidence of Type 1 Diabetes Mellitus in Turkish Children from the Southeastern Region of the Country: A Regional Report

H. Demirbilek, R. T. Baran, M. Özbek, 2013, Journal of clinical research in pediatric endocrinology.

Pancreatic Endocrine and Exocrine Function in Children following Near-Total Pancreatectomy for Diffuse Congenital Hyperinsulinism

S. Ellard, S. Alam, S. Flanagan, 2014, PloS one.

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism

A. Çayır, Erdal Kurnaz, H. Demirbilek, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

S. Poyrazoglu, A. Topaloğlu, L. D. Kotan, 2012, Journal of Clinical Research in Pediatric Endocrinology.

Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-Eastern Region of Turkey

H. Demirbilek, E. Unal, M. Demiral, 2020, Journal of clinical research in pediatric endocrinology.

Serum kisspeptin, neurokinin B and inhibin B levels can be used as alternative parameters to distinguish idiopathic CPP from premature thelarche in the early stages of puberty

H. Demirbilek, D. Vurallı, Nurdan Çiftçi, 2023, Clinical endocrinology.

Managing Severe Hypoglycaemia in Patients with Diabetes: Current Challenges and Emerging Therapies

H. Demirbilek, D. Vurallı, Basma Haris, 2023, Diabetes, metabolic syndrome and obesity : targets and therapy.

Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes

M. Ağın, H. Demirbilek, E. Unal, 2020, Journal of clinical research in pediatric endocrinology.

Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism

H. Demirbilek, A. Baran, R. T. Baran, 2016, Journal of clinical research in pediatric endocrinology.

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

A. Çayır, B. Cavdarli, K. Hussain, 2020, Journal of clinical research in pediatric endocrinology.

Incidence and Risk Factors of Hyperglycemia in Severe Multisystem Inflammatory Syndrome in Children: A Retrospective Case-Control Study

B. Bozkurt, Y. Ozsurekci, B. Bayrakci, 2022, Journal of Pediatric Infectious Diseases.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

H. Onay, H. Demirbilek, Şervan Özalkak, 2022, Journal of clinical research in pediatric endocrinology.