Search Results - "Ozkaya, Beyhan"

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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Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant by Acar, Sezer, Nalbantoğlu, Özlem, Gürsoy, Semra, Özkaya, Beyhan, Köprülü, Özge, Arslan, Gülçin, Hazan, Filiz, Özkan, Behzat

“…Persistent müllerian duct syndrome (PMDS) is a rare form of 46, XY disorder of sex development characterized by the persistence of the müllerian structures…”
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Extensive Plexiform Neurofibroma Presenting as Clitoromegaly in Neurofibromatosis Type 1 by Özlem Nalbantoğlu, Gülçin Arslan, Beyhan Özkaya, Sinan Genç, Behzat Özkan

“…Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder with multisystem involvement. Genitourinary involvement of neurofibromatosis type 1 is rare…”
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Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel variants in STAR and CYP17A1 by Koprulu, Ozge

“…ObjectivesCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase…”
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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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A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia by Acar, Sezer, Schlingmann, Karl Peter, Nalbantoğlu, Özlem, Köprülü, Özge, Arslan, Gülçin, Özkaya, Beyhan, Özkan, Behzat

“…Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the…”
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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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A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation by Arslan, Gulcin, Acar, Sezer, Ozdemir, Taha Resid, Nalbantoglu, Ozlem, Kirbiyik, Ozgur, Koprulu, Ozge, Ozkaya, Beyhan, Ozkan, Behzat

“…Hyperinsulinemic hypoglycemia is a rare disease affecting infants and children. The frequency of HNF4A mutation is the third most common type following ABCC8…”
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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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Lysosomal Lipid Storage Disease from the Perspective of General Pediatricians by Özkaya, Beyhan, Erbaş Canda, Ebru, Kalkan Uçar, Sema

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A Rare Complication of Insulin Therapy in a Child with Newly Diagnosed Type 1 Diabetes: Insulin Edema by Sezer Acar, Özlem Nalbantoğlu, Tarık Kırkgöz, Beyhan Özkaya, Ömrüm Erkan, Behzat Özkan

“…Although insulin therapy has a critical role in the management of patients with type 1 diabetes, it may cause various side effects at varying rates. Insulin…”
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Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant by Acar, Sezer, Nalbantoğlu, Özlem, Gürsoy, Semra, Özkaya, Beyhan, Köprülü, Özge, Arslan, Gülçin, Hazan, Filiz, Özkan, Behzat

“…Persistent müllerian duct syndrome (PMDS) is a rare form of 46, XY disorder of sex development characterized by the persistence of the müllerian structures…”
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Lysosomal Lipid Storage Disease from the Perspective of General Pediatricians by Özkaya, Beyhan, Canda, Ebru Erbas, Uçar, Sema Kalkan

“…Lysosomal lipid storage disease, occurs as a result of enzyme deficiency or defect in the transport of lipid molecules. Hepatosplenomegaly, neuromotor…”
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