Search Results - "HACIHAMDİOĞLU, Bülent"

Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report by Hacıhamdioğlu, Bülent, Baş, Elif Gülşah, Delil, Kenan

“…Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”…”
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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A by Dursun, Fatma, Özgürhan, Gamze, Kırmızıbekmez, Heves, Keskin, Ece, Hacıhamdioğlu, Bülent

“…Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene ( ). As it may be confused with…”
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Regulatory T Cells and Vitamin D Status in Children with Chronic Autoimmune Thyroiditis by Siklar, Zeynep, Karatas, Deniz, Dogu, Figen, Hacihamdioglu, Bulent, Ikinciogullari, Aydan, Berberoglu, Merih

“…It is suggested that vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationships between Treg cells and…”
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A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy by Hacıhamdioğlu, Bülent, Özgürhan, Gamze, Pereira, Catarina, Tepeli, Emre, Acar, Gülşen, Cömert, Serdar

“…Hypophosphatasia (HPP) is a rare disease caused by mutations in the gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications…”
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The Association between Serum 25-Hydroxy Vitamin D Level and Urine Cathelicidin in Children with a Urinary Tract Infection by Övünç Hacıhamdioğlu, Duygu, Altun, Demet, Hacıhamdioğlu, Bülent, Çekmez, Ferhat, Aydemir, Gökhan, Kul, Mustafa, Müftüoğlu, Tuba, Süleymanoğlu, Selami, Karademir, Ferhan

“…Cathelicidin is an important antimicrobial peptide in the urinary tract. Cathelicidin expression is strongly stimulated by 1,25-dihydroxy vitamin D in…”
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The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex chromosome DSD? by Öcal, Gönül, Berberoğlu, Merih, Şıklar, Zeynep, Ruhi, Hatice Ilgın, Tükün, Ajlan, Çamtosun, Emine, Erdeve, Şenay Savaş, Hacıhamdioğlu, Bülent, Fitöz, Suat

“…Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation…”
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Gonadotropin-Releasing Hormone Analogue Treatment in Females with Moderately Early Puberty: No Effect on Final Height by Savaş-Erdeve, Şenay, Şıklar, Zeynep, Hacıhamdioğlu, Bülent, Kocaay, Pınar, Çamtosun, Emine, Öcal, Gönül, Berberoğlu, Merih

“…To investigate the effects of treatment with gonadotropin-releasing hormone analog (GnRHa) on final height in girls who experienced moderately early puberty…”
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Preperitoneal Fat Tissue May Be Associated with Arterial Stiffness in Obese Adolescents by Hacıhamdioğlu, Bülent, Öçal, Gönül, Berberoğlu, Merih, Şıklar, Zeynep, Fitöz, Suat, Tutar, Ercan, Nergisoğlu, Gökhan, Erdeve, Şenay Savaş, Çamtosun, Emine

“…Abstract Vascular aging is a chronic process, and many negative effects of obesity in this process have been well defined. We assessed arterial stiffness in…”
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Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty by Akın, Onur, Yavuz, Süleyman Tolga, Hacıhamdioğlu, Bülent, Sarı, Erkan, Gürsel, Orhan, Yeşilkaya, Ediz

“…Gonadotropin-releasing hormone analogues are generally regarded as safe drugs. Gonadorelin acetate has been widely used for the diagnosis of central precocious…”
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Urinary Netrin-1: A New Biomarker for the Early Diagnosis of Renal Damage in Obese Children by Övünç Hacıhamdioğlu, Duygu, Hacıhamdioğlu, Bülent, Altun, Demet, Müftüoğlu, Tuba, Karademir, Ferhan, Süleymanoğlu, Selami

“…Urinary netrin-1 is a new marker to demonstrate early tubular damage. The aim of this study was to determine whether urinary netrin-1 is increased in obese…”
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Worldwide view of nephropathic cystinosis: results from a survey from 30 countries by Bertholet-Thomas, Aurélia, Berthiller, Julien, Tasic, Velibor, Kassai, Behrouz, Otukesh, Hasan, Greco, Marcella, Ehrich, Jochen, de Paula Bernardes, Rejane, Deschênes, Georges, Hulton, Sally-Ann, Fischbach, Michel, Soulami, Kenza, Saeed, Bassam, Valavi, Ehsan, Cobenas, Carlos Jose, Hacihamdioglu, Bülent, Weiler, Gabrielle, Cochat, Pierre, Bacchetta, Justine

“…Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early…”
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Relationships between osteocalcin, glucose metabolism, and adiponectin in obese children: Is there crosstalk between bone tissue and glucose metabolism? by Abseyi, Nilay, Şıklar, Zeynep, Berberoğlu, Merih, Hacıhamdioğlu, Bülent, Savaş Erdeve, Şenay, Öçal, Gönül

“…Recently, scientific interest has focused on the association between osteocalcin, which originates from the skeletal system, and glucose metabolism. Although…”
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Abdominal obesity is an independent risk factor for increased carotid intima- media thickness in obese children by Hacihamdioğlu, Bülent, Okutan, Vedat, Yozgat, Yilmaz, Yildirim, Düzgün, Kocaoğlu, Murat, Lenk, Mustafa Koray, Ozcan, Okan

“…We aimed in this study to investigate carotid intima-media thickness (IMT) in obese children and evaluate the relationship of IMT to various cardiovascular…”
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Evaluation of hypercoagulability in obese children with thrombin generation test and microparticle release: effect of metabolic parameters by Siklar, Zeynep, Öçal, Gönül, Berberoğlu, Merih, Hacihamdioğlu, Bülent, Savas Erdeve, Senay, Eğin, Yonca, Akar, Nejat

“…Obesity is associated with a hypercoagulable state. Thrombin generation test (TGT) and microparticle levels were not studied in obese children extensively. It…”
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Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature by Delil, Kenan, Karabulut, Halil Gürhan, Hacıhamdioğlu, Bülent, Şıklar, Zeynep, Berberoğlu, Merih, Öçal, Gönül, Tükün, Ajlan, Ruhi, Hatice Ilgın

“…The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the…”
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The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders by Hacıhamdioğlu, Bülent, Oçal, Gönül, Berberoğlu, Merih, Savaş Erdeve, Senay, Camtosun, Emine, Kocaay, Pınar, Fitoz, Suat, Ceyhan, Koray, Dindar, Hüseyin, Yağmurlu, Aydın, Kır, Metin, Unal, Emel, Sıklar, Zeynep

“…Autoimmune thyroiditis has been suggested as a precancerous condition in some adult studies, but there is still controversy. The importance of autoimmune…”
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The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels by Şıklar, Zeynep, Kocaay, Pınar, Çamtosun, Emine, İsakoca, Mehmet, Hacıhamdioğlu, Bülent, Savaş Erdeve, Şenay, Berberoğlu, Merih

“…Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some…”
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Clinical Review of 95 Patients with 46,XX Disorders of Sex Development Based on the New Chicago Classification by Öcal, Gönül, MD, Berberoğlu, Merih, MD, Sıklar, Zeynep, MD, Aycan, Zehra, MD, Hacıhamdioglu, Bülent, MD, Erdeve, Şenay S., MD, Çamtosun, Emine, MD, Kocaay, Pınar, MD, Ruhi, Hatice I., MD, Kılıç, Birim G., MD, Tukun, Ajlan, MD

“…Abstract Study Objective The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new…”
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Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell by Oçal, Gönül, Flanagan, Sarah E, Hacihamdioğlu, Bülent, Berberoğlu, Merih, Siklar, Zeynep, Ellard, Sian, Savas Erdeve, Senay, Okulu, Emel, Akin, Ilke Mungan, Atasay, Begum, Arsan, Saadet, Yağmurlu, Aydin

“…Recessive mutations in ABCC8/KCNJ11 of beta-cell K(ATP) channel generally cause severe medically unresponsive hyperinsulinemic hypoglycemia (HH). Rarer…”
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Pathophysiology of critical illness hyperglycemia in children by Hacıhamdioğlu, Bülent, Kendirli, Tanıl, Oçal, Gönül, Sıklar, Zeynep, Savaş Erdeve, Senay, Ince, Erdal, Berberoğlu, Merih

“…Causes of hyperglycemia in critically ill non-diabetic children may differ from those in adults. The objective of this study was to investigate the…”
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