Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant

Authors: Acar, Sezer, Nalbantoğlu, Özlem, Gürsoy, Semra, Özkaya, Beyhan, Köprülü, Özge, Arslan, Gülçin, Hazan, Filiz, Özkan, Behzat

Source: Gynecological endocrinology. 37(5):476-479

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121038225.0x000001&indx=1&recIds=ETOCvdc_100121038225.0x000001

A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation

Authors: Arslan, Gülçin, Acar, Sezer, Özdemir, Taha Reşid, Nalbantoğlu, Özlem, Kirbiyik, Özgür, Köprülü, Özge, Özkaya, Beyhan, Özkan, Behzat

Source: Journal of pediatric research. 7(2):168-171

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN624039772&indx=1&recIds=ETOCRN624039772

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.

Authors: Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Köprülü, Özge, Özkaya, Beyhan, Arslan, Gülçin, Nalbantoğlu, Özlem, Hazan, Filiz, Özkan, Behzat

Source: Journal of Pediatric Endocrinology & Metabolism; Jun2024, Vol. 37 Issue 6, p575-579, 5p

Identification of a novel homozygous NR5A1variant in a patient with a 46,XY disorders of sex development

Authors: Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Köprülü, Özge, Özkaya, Beyhan, Arslan, Gülçin, Nalbantoğlu, Özlem, Hazan, Filiz, Özkan, Behzat

Source: Journal of Pediatric Endocrinology & Metabolism; June 2024, Vol. 37 Issue: 6 p575-579, 5p

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review.

Authors: Köprülü, Özge, Acar, Sezer, Erdoğan, Kadri Murat, Nalbantoğlu, Özlem, Kırkgöz, Tarık, Arslan, Gülçin, Özkaya, Beyhan, Kutbay, Yaşar Bekir, Özkan, Behzat

Source: Journal of Pediatric Research; Dec2022, Vol. 9 Issue 4, p401-408, 8p

Subject Terms: MOSAICISM, SEX differentiation disorders, KARYOTYPES, SEX chromosomes, GONADAL dysgenesis, UROLOGICAL surgery, TURNER'S syndrome, PHENOTYPES, HYPOSPADIAS

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Authors: Kırkgöz, Tarık, Özkan, Behzat, Hazan, Filiz, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Kulalı, Melike Ataseven, Gürsoy, Semra, Ikegawa, Shiro, Guo, Long

Source: Frontiers in Genetics; 6/24/2022, Vol. 13, p1-7, 7p

Subject Terms: OSTEOPETROSIS, MISSENSE mutation, NONSENSE mutation, GENETIC mutation, MUTANT proteins, DYSPLASIA

Genel Pediatrist Gözü ile Lizozomal Lipid Depo Hastalıkları.

Alternate Title: Lysosomal Lipid Storage Disease from the Perspective of General Pediatricians.

Authors: Özkaya, Beyhan¹ beyhan_ozkaya@hotmail.com, Erbaş Canda, Ebru², Kalkan Uçar, Sema²

Source: Journal of Pediatric Research. 2016, Vol. 3 Issue 2, p70-75. 6p.

A Rare Complication of Insulin Therapy in a Child with Newly Diagnosed Type 1 Diabetes: Insulin Edema.

Authors: Acar, Sezer, Nalbantoğlu, Özlem, Kırkgöz, Tarık, Özkaya, Beyhan, Erkan, Ömrüm, Özkan, Behzat

Source: Journal of Pediatric Research; Dec2021, Vol. 8 Issue 4, p506-509, 4p

Subject Terms: DIET in disease, GLYCEMIC control, TYPE 1 diabetes, INSULIN, TREATMENT effectiveness, DIET therapy, EDEMA, DISEASE risk factors, CHILDREN

A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia.

Authors: Acar, Sezer, Schlingmann, Karl Peter, Nalbantoğlu, Özlem, Köprülü, Özge, Arslan, Gülçin, Özkaya, Beyhan, Özkan, Behzat

Source: Journal of Pediatric Endocrinology & Metabolism; Nov2021, Vol. 34 Issue 11, p1481-1486, 6p

Extensive Plexiform Neurofibroma Presenting as ID Clitoromegaly in Neurofibromatosis Type 1.

Alternate Title: Tip 1 Nörofibromatoziste Kliteromegali Olarak Gözlenen Ekstensif Plexiform Nörofibrom. (Turkish)

Authors: Nalbantoğlu, Özlem, Arslan, Gülçin, Özkaya, Beyhan, Genç, Sinan, Özkan, Behzat

Source: Journal of Dr. Behcet Uz Children's Hospital; Aug2021, Vol. 11 Issue 2, p215-218, 4p

Subject Terms: NEUROFIBROMATOSIS 1, MAGNETIC resonance imaging, NEUROFIBROMA, PELVIC floor, BASAL ganglia

A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6in a patient with hypomagnesemia with secondary hypocalcemia

Authors: Acar, Sezer, Schlingmann, Karl Peter, Nalbantoğlu, Özlem, Köprülü, Özge, Arslan, Gülçin, Özkaya, Beyhan, Özkan, Behzat

Source: Journal of Pediatric Endocrinology & Metabolism; November 2021, Vol. 34 Issue: 11 p1481-1486, 6p

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