Person: YEŞİL, GÖZDE
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Publication Metadata only Report of a Patient With Temple-Baraitser Syndrome(2014-03-01) YEŞİL, GÖZDE; Guler, Serhat; Yuksel, Adnan; ALANAY, Yasemin; YEŞİL, GÖZDEPublication Open Access A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood(2017-10-01) YILDIZ, Edibe Pembegul; YEŞİL, GÖZDE; OZKAN, Melis Ulak; BEKTAS, Gonca; CALISKAN, Mine; OZMEN, Meral; YEŞİL, GÖZDEPublication Metadata only Follow up four cerebrotendinous xanthomatosis patients importance of early diagnosis and treatment.(2017-05-30) DUMAN, NİLGÜN; AKYÜZ, ENES; GEÇKİNLİ, BİLGEN BİLGE; ZUBARİOĞLU, T; YEŞİL, GÖZDE; DUMAN, NİLGÜN; AKYÜZ, ENES; YEŞİL, GÖZDEPublication Metadata only Yeni mutasyon tespit edilen Sandhof Hastalığı vakası(2017-04-30) CESUR, YAŞAR; TAŞ, İBRAHİM; YEŞİL, GÖZDE; İŞCAN, AKIN; CESUR, YAŞAR; TAŞ, İBRAHİM; YEŞİL, GÖZDE; İŞCAN, AKINPublication Open Access Pseudohypoparathyroidism Type Ia with Normocalcemia(2019-04-01T00:00:00Z) Kutlu, Esra; CESUR, Yaşar; ÖZGEN, İLKER TOLGA; Yesil, Gozde; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; YEŞİL, GÖZDEPseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.Publication Metadata only ASSOCIATION BETWEEN MIGRAINE AND ALLERGIC RHINITIS IN CHILDHOOD AND ADOLESCENCE(2016-05-01) Guler, Serhat; Sakalli, Erdal; YEŞİL, GÖZDE; YEŞİL, GÖZDEObjective: Migraine and allergic rhinitis (AR) represent common childhood and adolescent conditions. The aim of this study to assess AR prevalence, treatment outcome, and clinical issues in childhood and adolescence migraine patients.Publication Metadata only Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.(2019-09-16) Yavas, Abali; Yesil, GÖZDE; Kirkgoz, T; Cicek, N; Alpay, H; Turan, S; Bereket, A; Guran, T; YEŞİL, GÖZDEPublication Metadata only Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene(2019-09-01) Celikboya, Ezgi; Cansever, Mehmet Serif; Zubarioglu, Tanyel; YEŞİL, GÖZDE; Akinci, Nurver; YEŞİL, GÖZDEFanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications.Publication Metadata only Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları(2017-02-25) CEYLAN, EMİNE İPEK; ECE SOLMAZ, ASLI; ONAY, HÜSEYİN; AYKUT, AYÇA; DURMAZ, ASUDE; YEŞİL, GÖZDE; HAZAN, FİLİZ; KİRAZ, ASLIHAN; TÜYSÜZ, BEYHAN; GÜNEŞ, MELTEM CERRAH; MUTLU ALBAYRAK, HATİCE; SANRI, ASLIHAN; ÖZKINAY, FERİŞTAH FERDA; YEŞİL, GÖZDEPublication Metadata only A rare cause of hypertension in childhood: Answers.(2019-09-20) Kucuk, N; ABALı, S; Canpolat, N; Yesil, GÖZDE; Turan, S; Bereket, A; Guran, T; YEŞİL, GÖZDE