Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Autor: Ozkinay, F., Emecen, D.A., Kose, M., Isik, E., Bozaci, A.E., Canda, E., Tuysuz, B., Zubarioglu, T., Atik, T., Onay, H.

Publikováno v: In Molecular Genetics and Metabolism Reports June 2021 27

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

Autor: Isik E; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Aydinok Y; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Albayrak C; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Durmus B; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Karakas Z; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Orhan MF; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Sakarya University, Sakarya, Turkey., Sarper N; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey., Aydın S; Division of Pediatric Hematology and Oncology, Antalya Training and Research Hospital, Antalya, Turkey., Unal S; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Mersin University, Mersin, Turkey., Oymak Y; Division of Pediatric Hematology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey., Karadas N; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Turedi A; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Celal Bayar University, Manisa, Turkey., Albayrak D; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Medical Park Samsun Hospital, Samsun, Turkey., Tayfun F; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Tugcu D; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Karaman S; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Tobu M; Department of Hematology, Faculty of Medicine, Ege University, Izmir, Turkey., Unal E; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Ozcan A; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Unal S; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Aksu T; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Unuvar A; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bilici M; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey., Azik F; Department of Pediatrics, Division of Pediatric Hematology, Faculty of Medicine, Muğla Sıtkı Koçman University, Mugla, Turkey., Ay Y; Division of Pediatric Hematology and Oncology, Kartal Dr Lütfi Kırdar Training and Research Hospital, Istanbul, Turkey., Gelen SA; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey., Zengin E; Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey., Albudak E; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey., Eker I; Department of Pediatric Hematology and Oncology and Pediatric Hematopoietic Stem Cell Transplantation Unit, Afyonkarahisar Health Science University Faculty of Medicine, Afyon, Turkey., Karakaya T; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, Turkey., Cogulu O; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Ozkinay F; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey., Atik T; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Publikováno v: European journal of haematology [Eur J Haematol] 2024 Jul; Vol. 113 (1), pp. 82-89. Date of Electronic Publication: 2024 Mar 31.

Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Autor: Yoldas Celik M; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye., Yazici H; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye., Erdem F; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye., Yuksel Yanbolu A; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye., Canda E; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye., Sezer E; Medical Faculty, Department of Medical Biochemistry, Ege University, Izmir, Türkiye., Kalkan Ucar S; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye., Onay H; Medical Faculty, Department of Medical Genetics, Ege University, Izmir, Türkiye., Ozkinay F; Medical Faculty, Department of Medical Genetics, Ege University, Izmir, Türkiye., Yildirim Sozmen E; Medical Faculty, Department of Medical Biochemistry, Ege University, Izmir, Türkiye., Coker M; Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.

Publikováno v: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15832.

SARS-CoV-2 reinfections in the pediatric cohort-a single-center experience.

Autor: Arslan A; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Sahbudak Bal Z; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Erci E; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Yıldırım Arslan S; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Bilen NM; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Avcu G; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Çiçek C; Department of Microbiology, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Ozkinay F; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey., Kurugol Z; Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey.

Publikováno v: Journal of tropical pediatrics [J Trop Pediatr] 2023 Dec 06; Vol. 70 (1).

DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS

Autor: Aykut A., Onay H., Gunduz C., Ozkinay F., Cogulu O., Sagol S.

Publikováno v: Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 33-38 (2013)

In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping

Externí odkaz: https://doaj.org/article/92ef49a2f17149e6ab65949651211374