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7 results on '"Özbek, Namık Yaşar"'

3. OUTCOMES OF ELTROMBOPAG TREATMENT AND DEVELOPMENT OF IRON DEFICIENCY IN CHILDREN WITH IMMUNE THROMBOCYTOPENIA IN TURKEY

Author

Koca Yozgat, Ayça, primary, Leblebisatan, Göksel, additional, Akbayram, Sinan, additional, Çınar Özel, Simge, additional, Karakaş, Zeynep, additional, Erduran, Erol, additional, Yılmaz, Şebnem, additional, Koçak, Ülker, additional, Ünal, Şule, additional, Özdemir, Gül Nihal, additional, Albayrak, Meryem, additional, Zengin, Emine, additional, Oymak, Yeşim, additional, Bör, Özcan, additional, Çakmaklı, Hasan Fatih, additional, Söker, Murat, additional, Gürlek Gökçebay, Dilek, additional, Tokgöz, Hüseyin, additional, Malbora, Barış, additional, Karaman, Serap, additional, Celkan, Tiraje, additional, Şaşmaz, İlgen, additional, Ören, Hale, additional, Ünüvar, Ayşegül, additional, and Özbek, Namık Yaşar, additional

Published
2020
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5. Juvenile Myelomonocytic Leukemia in Turkey: A Retrospective Analysis of Sixty-five PatientsÖzlem Tüfekçi1

Author

Tüfekçi, Özlem, primary, Koçak, Ülker, additional, Kaya, Zühre, additional, Yenicesu, İdil, additional, Albayrak, Canan, additional, Albayrak, Davut, additional, Yılmaz Bengoa, Şebnem, additional, Patıroğlu, Türkan, additional, Karakükçü, Musa, additional, Ünal, Ekrem, additional, Ünal İnce, Elif, additional, İleri, Talia, additional, Ertem, Mehmet, additional, Celkan, Tiraje, additional, Özdemir, Gül Nihal, additional, Sarper, Nazan, additional, Kaçar, Dilek, additional, Yaralı, Neşe, additional, Özbek, Namık Yaşar, additional, Küpesiz, Alphan, additional, Karapınar, Tuba, additional, Vergin, Canan, additional, Çalışkan, Ümran, additional, Tokgöz, Hüseyin, additional, Evim, Melike Sezgin, additional, Baytan, Birol, additional, Güneş, Adalet Meral, additional, Yılmaz Karapınar, Deniz, additional, Karaman, Serap, additional, Uygun, Vedat, additional, Karasu, Gülsun, additional, Yeşilipek, Mehmet Akif, additional, Koç, Ahmet, additional, Erduran, Erol, additional, Atabay, Berna, additional, Öniz, Haldun, additional, and Ören, Hale, additional

Published
2018
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7. Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Author

Atik T, Işık E, Onay H, Akgün B, Shamsali M, Kavaklı K, Evim M, Tüysüz G, Özbek NY, Şahin F, Salcıoğlu Z, Albayrak C, Oymak Y, Ünal E, Belen FB, Yılmaz Keskin E, Balkan C, Baytan B, Küpesiz A, Culha V, Tahtakesen Güçer TN, Güneş AM, and Özkınay F

Subjects
DNA genetics, Female, Genotype, Hemophilia A diagnosis, Humans, Infant, Male, Factor VIII genetics, Hemophilia A genetics, Mutation, Polymerase Chain Reaction
Abstract

Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation., Materials and Methods: All HA cases (270 patients) analyzed molecularly in the Ege University Pediatric Genetics Molecular Laboratory between March 2017 and March 2018 were included in this study. To identify intron 22 inversion (Inv22), intron 1 inversion (Inv1), small deletion/insertions, and point mutations, molecular analyses of F8 were performed using a sequential application of molecular techniques., Results: The mutation detection success rate was 95.2%. Positive Inv22 was found in 106 patients (39.3%), Inv1 was found in 4 patients (1.5%), and 106 different disease-causing sequence variants were identified in 137 patients (50.6%). In 10 patients (3.7%), amplification failures involving one or more exonic regions, considered to be large intragenic deletions, were identified. Of 106 different F8 mutations, 36 were novel. The relationship between F8 genotype and inhibitor development was considered significant., Conclusion: A high mutation detection rate was achieved via the broad molecular techniques applied in this study, including 36 novel mutations. With regard to mutation types, mutation distribution and their impact on clinical severity and inhibitor development were found to be similar to those previously reported in other hemophilia population studies.

Published
2020
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