A5083681397- Genetics and Neurodevelopmental Disorders
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Pancreatic function and diabetes
- Estrogen and related hormone effects
- Congenital Ear and Nasal Anomalies
- Brucella: diagnosis, epidemiology, treatment
- Diabetes and associated disorders
- Protein Tyrosine Phosphatases
- Hypothalamic control of reproductive hormones
- Fetal and Pediatric Neurological Disorders
- Atherosclerosis and Cardiovascular Diseases
- Galectins and Cancer Biology
- Hedgehog Signaling Pathway Studies
- Genomic variations and chromosomal abnormalities
- Amino Acid Enzymes and Metabolism
- Tumors and Oncological Cases
- Hormonal and reproductive studies
- Lysosomal Storage Disorders Research
- Genetic Syndromes and Imprinting
- Diabetes Management and Research
- Mitochondrial Function and Pathology
Dokuz Eylül University
2015-2025
Izmir University
2020-2023
Pediatrics and Genetics
2017-2023
University of Health Science
2023
Sağlık Bilimleri Üniversitesi
2020-2022
Gaziantep Children's Hospital
2021-2022
University of Wisconsin–Madison
2022
Dr. Behçet Uz Çocuk Hastalıkları Hastanesi
2018-2021
İstanbul Eğitim ve Araştırma Hastanesi
2020
Izmir Bozyaka Eğitim ve Araştırma Hastanesi
2019
Introduction: We aimed to determine the incidence, etiology, risk factors and outcome of bacterial meningitis in neonates. Methodology: Neonates who developed between 2003 2010 a tertiary hospital Turkey were included study. Patients born our defined as Group 1 patients referred from other centres 2. with evidence congenital infections or central nervous system malformations excluded. Demographic features, delivery type, time onset meningitis, co-morbidities, clinical blood cerebrospinal...
Purpose Type 1 diabetes mellitus (T1DM) is a chronic and immune-mediated disease, which characterized by the progressive destruction of pancreatic beta cells. T1DM precipitates in genetically susceptible individuals through environmental factors. In this study, we aimed to evaluate impact autoimmunity intestinal colonization Candida albicans on development T1DM. Methods Forty-two patients newly diagnosed with 42 healthy subjects were included monocentric study. The basic clinical...
Abstract An optimal Golgi transport system is important for mammalian cells. The adenosine diphosphate (ADP) ribosylation factors (ARF) are key proteins regulating cargo sorting at the network. In this family, ARF3 mainly works trans-Golgi network (TGN), and no ARF3-related phenotypes have yet been described in humans. We here report clinical genetic evaluations of two unrelated children with de novo pathogenic variants gene: c.200A > T (p.Asp67Val) c.296G (p.Arg99Leu). Although...
Journal Article Cibenzoline transforms random re-entry into ordered in the atria Get access J. BRUGADA, BRUGADA *Arrhythmia Unit, Department of Cardiology, Hospital Clinic, University BarcelonaSpain Search for other works by this author on: Oxford Academic PubMed Google Scholar S. GÜRSOY, GÜRSOY P. Correspondence: Pedro Brugada, MD, Cardiovascular, Center, OLV Hospital, Moorselbaan 164, 9300 Aalst, Belgium ATIÉ, ATIÉ G. GUIRAUDON, GUIRAUDON E. ANDRIES European Heart Journal, Volume 14, Issue...
Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, skin. This study aimed to evaluate clinical molecular characteristics of patients galactosemia, observed more frequently our country than anywhere else world.This...
Objective: SHOX gene mutations constitute one of the genetic causes short stature.The clinical phenotype includes variable degrees growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic stature (ISS).The aim this study was to describe features and molecular results deficiency in a group Turkish patients who had skeletal findings with without stature.Methods: Forty-six ISS, disproportionate from 35 different families were included.SHOX...
Non-syndromic monogenic obesity is a rare cause of early-onset severe in the childhood period. The aim this study was to screen four related genes (LEP, LEPR, MC4R and POMC) children adolescents who had severe, non-syndromic early onset obesity.Next-generation sequencing all exons LEP, POMC performed 154 with obesity.Fifteen different variants nineteen patients were identified variant detection rate 12.3%. While six heterozygous observed gene (10/154 patients; 6.5%), five (four them one...
Chronic hepatitis C virus (HCV) infection has been recently identified as an aetiological agent in idiopathic pulmonary fibrosis. The present study was designed to determine the clearance rate of 99mTc-diethylenetriaminepentaacetic acid (99mTc-DTPA) asymptomatic HCV antibody positive (HCV Ab+) patients and role 99mTc-DTPA aerosol scintigraphy early detection lung involvement. Twenty-six non-smoker Ab+ HCV-RNA (+) (20 female, six male; aged 43+/-11 years), with no clinical symptoms, normal...
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or action GnRH on pituitary gonadotrophes. KISS1R one genes which, when mutated, cause IHH and mutations this gene are responsible for about 2-5% patients with normosmic (NIHH). In report, we present three siblings NIHH due to compound heterozygous mutation. Genetic studies were carried out 14 year old index case siblings, two whom prepubertal. Genomic...
Key Clinical Message In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified p.Gly646Trpfs*12 mutation—present 132 individuals ExAC—as very probable cause of disease Bohring‐Opitz syndrome patient.
Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of this disorder include distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, brachydactyly, and skeletal anomalies. Gain-of-function mutations in the SMAD4 gene are responsible for syndrome. Herein, we present 9.6-year-old Turkish girl with molecularly confirmed who had novel findings including bilateral Axenfield Rieger anomaly secondary glaucoma...
Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified allelic variant spectrum 11 causative in Turkish patients
Introduction: In this study, we aimed to characterize the effect of methylation on clinical diversity and gene expression levels in familial Mediterranean fever. Materials Methods: Forty children, who were diagnosed with FMF according Tel-Hashomer criteria, included study. The control group consisted 32 healthy children. Demographic data, results molecular studies, physical examination findings, number attacks, response treatment recorded. To test possibility that is responsible for...
To evaluate orodental, facial, clinical and molecular characteristics of the patients with Noonan Syndrome (NS).The 29 mutation-positive NS were recorded. Orodental examination was performed in 17 patients. All exons exonintron boundries PTPN11 SOS1 genes analyzed by Sanger sequencing.A total from 27 unrelated families included study. Seventeen examined a specialist oral medicine. The most common orodental findings high-arched palate (n=13), gingivitis (n=6) severe caries (n=6). Anterior...
Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It characterized by impaired estrogen production, increased gonadotropins, ovarian cysts. Case. Herein, we report clinical phenotype of the virilized due novel compound heterozygous variant CYP19A1 [IVS10 + 1 G > A; c.344 A (p.R115Q)], with normal gonadotropin levels at time admission histologically tissues. Conclusion. should also be considered even if initial...
Brucellosis is an important infectious disease, especially in developing countries, and may involve any organ, including the cardiovascular system. This study aimed to assess cardiac endothelial functions brucellosis patients.Seventy-three patients with seventy-five healthy volunteers from Turkey were enrolled between 2011 2013 this cross-sectional study. Diagnosis was established by Rose-Bengal test, positive Brucella standart tube agglutination Coombs STA and/or isolation species blood....
Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS inherited in an autosomal recessive manner genetically clinically heterogeneous. To date, four individuals with who have five different TNFRSF11A mutations been reported. Based on their data, it hypothesized that producing aberrant mutant RANK proteins (missense or truncated elongated) cause DOS, while null lead to osteopetrosis, 7 (OPTB7)....