Search Results - "Kirkgoz, Tarik"

Predicting diabetic kidney disease in youth with type 1 diabetes: Insights from genetic risk assessment by Evin, Ferda, Kırkgöz, Tarık, Atik, Tahir, Ak, Güneş, Köse, Timur, Kabasakal, Caner, Özkan, Behzat, Özen, Samim, Darcan, Şükran, Gökşen, Damla

“…Diabetic kidney disease (DKD) is influenced by multiple factors, yet its precise progression mechanisms remain largely unclear. This study aimed to create a…”
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Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development by Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Köprülü, Özge, Özkaya, Beyhan, Arslan, Gülçin, Nalbantoğlu, Özlem, Hazan, Filiz, Özkan, Behzat

“…Nuclear receptor subfamily 5 group A member 1 ( ) is a transcription factor critical for the development of various organs. Pathogenic variants in are…”
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Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature by Kaygusuz, Sare Betul, Alavanda, Ceren, Kirkgoz, Tarik, Eltan, Mehmet, Yavas Abali, Zehra, Helvacioglu, Didem, Guran, Tulay, Ata, Pinar, Bereket, Abdullah, Turan, Serap

“…Vitamin D-dependent rickets type IA (VDDR-IA) is caused by biallelic mutations in CYP27B1 . Data regarding genotype–phenotype correlation in VDDR-IA are…”
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Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features by Eltan, Mehmet, Yavas Abali, Zehra, Turkyilmaz, Ayberk, Gokce, Ibrahim, Abali, Saygın, Alavanda, Ceren, Arman, Ahmet, Kirkgoz, Tarik, Guran, Tulay, Hatun, Sukru, Bereket, Abdullah, Turan, Serap

“…Biallelic loss of function mutations in the CLDN16 gene cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and chronic kidney…”
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A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age by Eltan, Mehmet, Alavanda, Ceren, Yavas Abali, Zehra, Ergenekon, Pinar, Yalındag Ozturk, Nilufer, Sakar, Mustafa, Dagcinar, Adnan, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Gokdemir, Yasemin, Elcioglu, Huriye Nursel, Guran, Tulay, Bereket, Abdullah, Ata, Pinar, Turan, Serap

“…Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal…”
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A Rare Complication of Insulin Therapy in a Child with Newly Diagnosed Type 1 Diabetes: Insulin Edema by Acar, Sezer, Nalbantoğlu, Özlem, Kırkgöz, Tarık, Özkaya, Beyhan, Erkan, Ömrüm, Özkan, Behzat

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Evaluation of Serum Advanced Glycation End Product Levels and Microvascular Complications in Children and Adolescents with Type 1 Diabetes Mellitus by Kırkgöz, Tarık, Acar, Sezar, Küme, Tuncay, Hilal Kırkgöz, Hatice, Tabanlı, Gulin, Nalbantoğlu, Özlem, Yılmaz, Ünsal, Ünalp, Aycan, Özkan, Behzat

“…Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was…”
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Comparison of Axillary and Tympanic Temperature Measurements in Children Diagnosed with Acute Otitis Media by Bozaykut, Abdulkadir, Kırkgöz, Tarık, Sezer, Rabia Gönül, Doğan, Hatice Hilal

“…Background. Acute otitis media [AOM] may affect the accuracy of tympanic temperature measurements. We aimed to compare tympanic temperature measurements in…”
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Primary adrenal insufficiency in children: Diagnosis and management by Kirkgoz, Tarik, Guran, Tulay

“…Primary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is characterized by deficient biosynthesis of glucocorticoids, with…”
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Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers by Yavas Abali, Zehra, Yesil, Gozde, Kirkgoz, Tarık, Cicek, Neslihan, Alpay, Harika, Turan, Serap, Bereket, Abdullah, Guran, Tulay

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Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions by Yavas Abali, Zehra, Yesil, Gozde, Kirkgoz, Tarık, Cicek, Neslihan, Alpay, Harika, Turan, Serap, Bereket, Abdullah, Guran, Tulay

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Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation by Eltan, Mehmet, Yavas Abali, Zehra, Arslan Ates, Esra, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Türkyılmaz, Ayberk, Bereket, Abdullah, Turan, Serap, Guran, Tulay

“…Dehydroepiandrosterone (DHEA) sulfotransferase (SULT2A1) converts DHEA to DHEA sulfate (DHEAS) which prevents bioactive androgen excess. This enzymatic…”
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Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature by Abali, Zehra Yavas, Yesil, Gozde, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Eltan, Mehmet, Turan, Serap, Bereket, Abdullah, Guran, Tulay

“…Background Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is…”
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Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty by Kirkgoz, Tarik, Karakoc-Aydiner, Elif, Bugrul, Fuat, Yavas Abali, Zehra, Helvacioglu, Didem, Kiykim, Ayca, Bilgic Eltan, Sevgi, Aruci Kasap, Nurhan, Baris, Safa, Ozen, Ahmet, Guran, Tulay, Bereket, Abdullah, Turan, Serap

“…Besides local reactions, systemic hypersensitivity reactions such as urticaria, anaphylaxis, serum sickness and Henoch-Schönlein purpura (HSP) have been…”
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Does COVID-19 predispose patients to type 1 diabetes mellitus? by Aysun Ata, Arzu Jalilova, Tarik Kirkgoz, Hafize Isiklar, Gunay Demir, Yasemin Atik Altinok, Behzat Ozkan, Aysin Zeytinlioglu, Sukran Darcan, Samim Ozen, Damla Goksen

“…[Abstract.] The novel coronavirus disease (COVID-19) has emerged as a global pandemic. This was a prospective, case-control study conducted in Izmir, Turkey…”
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Could Hematologic Parameters Have a Predictive Role in Pediatric Hashimoto Thyroiditis? by Tarık Kırkgöz, Behzat Özkan

“…Objective: Hashimoto thyroiditis (HT) is an autoimmune thyroid disease evolving as a result of lymphocyte infiltration and chronic inflammation. Although adult…”
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A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis by Kırkgöz, Tarık, Özkan, Behzat, Hazan, Filiz, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Kulalı, Melike Ataseven, Gürsoy, Semra, Ikegawa, Shiro, Guo, Long

“…Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS is…”
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Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes by Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Anıl Korkmaz, Hüseyin, Hazan, Filiz, Özkan, Behzat

“…Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been…”
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Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review by Koprulu, Ozge, Acar, Sezer, Erdogan, Kadri Murat, Nalbantoglu, Ozlem, Kirkgoz, Tarik, Arslan, Gulcin, Ozkaya, Beyhan, Kutbay, Yasar Bekir, Ozkan, Behzat

“…The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development,…”
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Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients by Kırkgöz, Tarık, Eltan, Mehmet, Kaygusuz, Sare Betül, Yavaş Abalı, Zehra, Helvacıoğlu, Didem, Seven Menevşe, Tuba, Gürpınar Tosun, Büşra, Güran, Tülay, Bereket, Abdullah, Turan, Serap

“…To evaluate the efficacy of degludec/aspart (IDegAsp) insulin co-formulation in children and adolescents with poorly controlled type 1 diabetes (T1DM)…”
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