Search Results - "Ozen, Samim"

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics by Aykut, Ayça, Özen, Samim, Gökşen, Damla, Ata, Aysun, Onay, Hüseyin, Atik, Tahir, Darcan, Şükran, Özkinay, Ferda

“…Melanocortin 4 receptor gene plays an important role in food intake, energy balance, and weight control. The autosomal dominantly inherited MC4R variants cause…”
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Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort by Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Bas, Firdevs, Darcan, Sukran, Bideci, Aysun, Guven, Ayla, Demir, Korcan, Akinci, Aysehan, Buyukinan, Muammer, Aydin, Banu Kucukemre, Turan, Serap, Agladioglu, Sebahat Yilmaz, Atay, Zeynep, Abali, Zehra Yavas, Tarim, Omer, Catli, Gonul, Yuksel, Bilgin, Akcay, Teoman, Yildiz, Metin, Ozen, Samim, Doger, Esra, Demirbilek, Huseyin, Ucar, Ahmet, Isik, Emregul, Ozhan, Bayram, Bolu, Semih, Ozgen, Ilker Tolga, Suntharalingham, Jenifer P, Achermann, John C

“…Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal…”
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Impact of lipodystrophy on health-related quality of life: the QuaLip study by Demir, Tevfik, Simsir, Ilgin Yildirim, Tuncel, Ozlem Kuman, Ozbaran, Burcu, Yildirim, Ilker, Pirildar, Sebnem, Ozen, Samim, Akinci, Baris

“…Lipodystrophy is a rare disease characterized by loss of adipose tissue. Natural history studies have demonstrated significant burden of disease; however,…”
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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey by Akinci, Baris, Onay, Huseyin, Demir, Tevfik, Ozen, Samim, Kayserili, Hulya, Akinci, Gulcin, Nur, Banu, Tuysuz, Beyhan, Nuri Ozbek, Mehmet, Gungor, Adem, Yildirim Simsir, Ilgin, Altay, Canan, Demir, Leyla, Simsek, Enver, Atmaca, Murat, Topaloglu, Haluk, Bilen, Habib, Atmaca, Hulusi, Atik, Tahir, Cavdar, Umit, Altunoglu, Umut, Aslanger, Ayca, Mihci, Ercan, Secil, Mustafa, Saygili, Fusun, Comlekci, Abdurrahman, Garg, Abhimanyu

“…Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to…”
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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes by Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget E, Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle

“…Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of…”
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Predictive low-glucose suspend system and glycemic variability by Evin, Ferda, Ata, Aysun, Er, Eren, Demir, Günay, Çetin, Hafize, Altınok, Yasemin Atik, Özen, Samim, Darcan, Şükran, Gökşen, Damla

“…Introduction Predictive low-glucose suspend (PLGS) system helps prevent hypoglycemia. Aim To evaluate the effect of PLGS therapy on GV and percentage of time…”
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Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III by Komur, Mustafa, Ozen, Samim, Okuyaz, Cetin, Makharoblıdze, Khatuna, Erdogan, Semra

“…Abstract Background: Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early…”
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A Remarkable Coexistence of Systemic Capillary Leak Syndrome and Diabetes in an 11-Year-Old Boy: A Case Report and Review of the Literature by Darcan, Şükran, Kütükçüler, Necil, Aksu, Güzide, Edeer Karaca, Neslihan, Gökşen, Damla, Özen, Samim, Ata, Aysun, Onay, Hüseyin

“…Systemic capillary leak syndrome (ISCLS) is a rare disease characterized by unexplained reversible capillary hyperpermeability followed by hypoperfusion,…”
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New Features for Child Metrics: Further Growth References and Blood Pressure Calculations by Demir, Korcan, Konakçı, Ergun, Özkaya, Güven, Kasap Demir, Belde, Özen, Samim, Aydın, Murat, Darendeliler, Feyza

“…Many new features have recently been incorporated to ÇEDD Çözüm/Child Metrics, an online and freely accessible scientific toolset. Various auxological…”
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Reply to: The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche by Arslan, Emrullah, Ozen, Samim

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Editorial by Ozen, Samim

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Editorial by Ozen, Samim

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Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People by Özen, Samim, Akıncı, Barış, Oral, Elif A.

“…Lipodystrophy is a heterogeneous group of disorders characterized by lack of body fat in characteristic patterns, which can be genetic or acquired…”
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The Impact of the CEDD-NET on the Evaluation of Rare Disorders: A Multicenter Scientific Research Platform in the Field of Pediatric Endocrinology by Özen, Samim, Ata, Aysun, Darendeliler, Feyza

“…The database http://cedd.saglik-network.org (CEDD-NET) has been operating since 2013 in Turkey. All pediatric endocrinologists can propose projects to this…”
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A Comprehensive Online Calculator for Pediatric Endocrinologists: ÇEDD Çözüm/TPEDS Metrics by Demir, Korcan, Özen, Samim, Konakçı, Ergun, Aydın, Murat, Darendeliler, Feyza

“…Pediatricians need to make many medical calculations during follow-up of both healthy and sick children. This is particularly relevant for pediatric…”
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Local complications of insulin administration sites and effect on diabetes management by Demir, Günay, Er, Eren, Atik Altınok, Yasemin, Özen, Samim, Darcan, Şükran, Gökşen, Damla

“…Background Administration of insulin may be associated with substantial cutaneous adverse effects, such as lipoatrophy and lipohypertrophy (LH), which can…”
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The psychosocial outcomes of advanced hybrid closed-loop system in children and adolescents with type 1 diabetes by Jalilova, Arzu, Pilan, Birsen Şentürk, Demir, Günay, Özbaran, Burcu, Balkı, Hanife Gul, Arslan, Emrullah, Köse, Sezen Gökcen, Özen, Samim, Darcan, Şükran, Gökşen, Damla

“…The study was carried out to determine the psychosocial outcomes of advanced hybrid closed-loop (AHCL) systems in children and adolescents with type 1 diabetes…”
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Effects of environmental endocrine disruptors on pubertal development by Özen, Samim, Darcan, Şükran

“…The onset and course of puberty are under the control of the neuroendocrine system. Factors affecting the timing and regulation of the functions of this system…”
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A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism by Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda

“…Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system…”
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A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review by Besci, Özge, Fırat, Sevde Nur, Özen, Samim, Çetinkaya, Semra, Akın, Leyla, Kör, Yılmaz, Pekkolay, Zafer, Özalkak, Şervan, Özsu, Elif, Erdeve, Şenay Savaş, Poyrazoğlu, Şükran, Berberoğlu, Merih, Aydın, Murat, Omma, Tülay, Akıncı, Barış, Demir, Korcan, Oral, Elif Arioglu

“…Abstract Context Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. Objective To present new cases with LEP and LEPR…”
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