Travaux scientifiques
Prof. Dr. Teoman Akçay
103 publications. La source de l’information est indiquée à côté de chaque publication.
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Molecular findings of three different male under virilization cases with 47,XXY karyotype
Endocrine Abstracts, 2014
DOI 10.1530/endoabs.35.p821 1 citation (OpenAlex) Source : OpenAlex
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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation
American Journal of Human Genetics, 2013
DOI 10.1016/j.ajhg.2012.11.017 PMID 23273570 67 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion
European Journal of Medical Genetics, 2013
DOI 10.1016/j.ejmg.2013.06.006 PMID 23831233 9 citations (Europe PMC) Source : ORCID
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Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2013
DOI 10.4274/jcrpe.928 PMID 23748067 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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MSX1 intronic CA repeat polymorphism is associated with non-syndromic cleft lip with/without palate in a Turkish family.
Disease and Molecular Medicine, 2013
DOI 10.5455/dmm.20131024011602 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex
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Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: Novel mutations in TRPM6 and CLDN16 genes
Nephrology Dialysis Transplantation, 2012
DOI 10.1093/ndt/gfr300 PMID 21669885 25 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Congenital hyperinsulinism and cardiomyopathy
Fetal and Pediatric Pathology, 2012
DOI 10.3109/15513815.2012.656831 PMID 22413945 1 citation (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
Orphanet Journal of Rare Diseases, 2012
DOI 10.1186/1750-1172-7-25 PMID 22583614 30 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy
European Journal of Endocrinology, 2012
DOI 10.1530/eje-11-0140 PMID 22004907 27 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
Journal of Clinical Endocrinology and Metabolism, 2012
DOI 10.1210/jc.2011-3169 PMID 22549935 98 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Regional dispersion of non-syndromic cleft lip withwithout palate Turkish children patients and possible geographical effects
Clinical and Experimental Health Sciences, 2012
DOI 10.5455/musbed.20121231011251 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex
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İzole dudak-damak yarıklı Türk çocuk hastaların bölgesel dağılımı ve olası bölgesel etkiler
DergiPark (Istanbul University), 2012
Source : OpenAlex
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Cognitive and psychosocial development in children with familial hypomagnesaemia
Magnesium Research, 2011
DOI 10.1684/mrh.2011.0278 PMID 21489917 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees
Journal of Clinical Endocrinology and Metabolism, 2011
DOI 10.1210/jc.2010-1906 PMID 21252247 44 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Investigation of the MMP1 and MMP3 promoter polymorphisms in temporomandibular joint disorder,Temporomandibular baǧlantı bozukluklarnda MMP1 ve MMP3 promotor polimorfizmlerinin incelenmesi
Journal of Cell and Molecular Biology, 2011
Source : ORCID
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Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome
Clinical Dysmorphology, 2011
DOI 10.1097/mcd.0b013e32833fd528 PMID 20966747 16 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets
JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2011
DOI 10.4274/jcrpe.v3i1.02 PMID 21448327 98 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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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
JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2010
DOI 10.4274/jcrpe.v2i1.17 PMID 21274331 22 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Content analysis of food advertising in Turkish television
Journal of Paediatrics and Child Health, 2010
DOI 10.1111/j.1440-1754.2010.01753.x PMID 20546099 18 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
European Journal of Endocrinology, 2010
DOI 10.1530/eje-09-0861 PMID 20164212 114 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia
Bone, 2010
DOI 10.1016/j.bone.2009.09.016 PMID 19796717 43 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Molecular approach to tooth decays,Diş çürüklerinin oluşumuna moleküler yaklaşım
Journal of Cell and Molecular Biology, 2010
Source : ORCID
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Recessive versus imprinted disorder: Consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib
European Journal of Endocrinology, 2010
DOI 10.1530/eje-10-0348 PMID 20538864 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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T4 plus T3 treatment in children with hypothyroidism and inappropriately elevated thyroid-stimulating hormone despite euthyroidism on T4 treatment
Hormone Research in Paediatrics, 2010
DOI 10.1159/000277627 PMID 20190547 10 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Irradiation-Induced Growth Hormone Neurosecretory Disfunction In ALL Patients
Blood, 2010
DOI 10.1182/blood.v116.21.4329.4329 Source : OpenAlex
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EVALUATION OF GROWTH PARAMETERS AND PUBERTAL CONDITIONS IN PATIENTS WITH BETA-THALASSEMIA MAJOR
Bursa Uludag University - AVESIS, 2010
Source : OpenAlex
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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor
Journal of Clinical Endocrinology and Metabolism, 2009
DOI 10.1210/jc.2009-0551 PMID 19755480 100 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair
European Journal of Endocrinology, 2009
DOI 10.1530/eje-08-0632 PMID 18996963 11 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children
European Journal of Pediatrics, 2009
DOI 10.1007/s00431-008-0876-x PMID 19043735 29 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Constitutional Growth Delay Pattern of Growth in Velo-Cardio-Facial Syndrome: Longitudinal follow up and final height of two cases
Journal of Clinical Research in Pediatric Endocrinology, 2008
DOI 10.4008/jcrpe.v1i1.13 PMID 21318064 4 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex
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Alendronate treatment in children with osteogenesis imperfecta.
Indian pediatrics, 2008
PMID 18310788 12 citations (Europe PMC) Source : ORCID
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Erratum: Evaluation of diagnosis and treatment results in children with grave's disease with emphasis on the pubertal status of patients (Journal of Pediatric Endocrinology and Metabolism (2008) vol. 21 (8) (745-751))
Journal of Pediatric Endocrinology and Metabolism, 2008
Source : ORCID
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Evaluation of diagnosis and treatment results in children with graves' disease with emphasis on the pubertal status of patients
Journal of Pediatric Endocrinology and Metabolism, 2008
DOI 10.1515/jpem.2008.21.8.745 PMID 18825874 13 citations (Europe PMC) Source : ORCID
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Significance of acanthosis nigricans in childhood obesity
Journal of Paediatrics and Child Health, 2008
DOI 10.1111/j.1440-1754.2007.01272.x PMID 18476925 35 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID
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Alopecia areata: A new association with resistance to thyroid hormones in a family with novel TRb mutation
Dspace Repository (Marmara Üniversitesi), 2008
Texte intégral en libre accèsSource : OpenAlex
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Prognostic significances of oxidative DNA damage evaluated by 8-hydroxy-deoxyguanosine and antioxidant enzymes in patients undergoing resection of gastric and colon carcinoma.
Neoplasma, 2007
PMID 17319786 15 citations (Europe PMC) Source : ORCID
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Hypophysis hyperplasia and growth hormon deficiency that immitate hypophysis macro adenoma secondary to hypothyroidism,Hipotiroidiye ikincil hipofiz makroadenomunu taklit eden hipofiz hiperplazisi ve büyüme hormonu eksikliǧi
Goztepe Tip Dergisi, 2006
Source : ORCID
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Severe diabetic ketoacidosis: Hyperventilation or relative hypoventilation [1]
Pediatric Critical Care Medicine, 2006
DOI 10.1097/01.pcc.0000216417.23633.be PMID 16682898 Texte intégral en libre accèsSource : ORCID
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Factors associated with obesity in children with hypothalamo-pituitary tumors
Dspace Repository (Marmara Üniversitesi), 2006
Texte intégral en libre accèsSource : OpenAlex
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Evaluation of patients with Graves' disease
Bursa Uludag University - AVESIS, 2006
Source : OpenAlex
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Fahr disease,Fahr hastaliǧi
Goztepe Tip Dergisi, 2006
Source : ORCID
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The relationship between antioxidant enzymes and bladder cancer.
PubMed, 2005
PMID 16059648 10 citations (Europe PMC) Source : OpenAlex
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DNA damage, DNA susceptibility to oxidation and glutathione level in women with polycystic ovary syndrome.
Scandinavian journal of clinical and laboratory investigation, 2005
DOI 10.1080/00365510500375263 PMID 16509054 49 citations (Europe PMC) Source : ORCID
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Oxidative protein damage parameters in plasma in chronic experimental diabetes in rats.
European journal of medical research, 2003
PMID 12911868 12 citations (Europe PMC) Source : ORCID
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Levels of plasma vitamin E, vitamin C, TBARS, and cholesterol in male patients with colorectal tumors.
Biochemistry. Biokhimiia, 2003
DOI 10.1023/a:1023010418230 PMID 12733974 18 citations (Europe PMC) Source : ORCID
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Asemptomatik Türk çocuklarında idrarla kalsiyum atılımı ve idiyopatik hiperkalsiüri sıklığı
2002
Source : OpenAlex
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Zinc deficiency,Çinko eksikligi
SENDROM, 2001
Source : ORCID
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Effect of alpha-lipoic acid supplementation on oxidative protein damage in the streptozotocin-diabetic rat.
Research in experimental medicine. Zeitschrift fur die gesamte experimentelle Medizin einschliesslich experimenteller Chirurgie, 2000
DOI 10.1007/s004330050007 PMID 10743682 26 citations (Europe PMC) Source : ORCID
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Changes in bone turnover and deoxypyridinoline levels in epileptic patients.
Clinical chemistry and laboratory medicine, 2000
DOI 10.1515/cclm.2000.008 PMID 10774961 18 citations (Europe PMC) Source : ORCID
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Oxidative protein damage in plasma of type 2 diabetic patients.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 2000
DOI 10.1055/s-2007-978584 PMID 10727013 78 citations (Europe PMC) Source : ORCID