Yazar "Berber, Ergül" için listeleme
-
A common VWF exon 28 haplotype in the Turkish population
Berber, Ergül; Yalçın Çapan, Özlem; Pehlevan, Funda; Akın, Mehmet; Kavaklı, Kaan; Çağlayan, Hande (Elsevier, 2013)An increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD). Most of the sequence alterations are within exon 28, duplicated ... -
Exploring the role of miRNAs in the diagnosis of MODY3
Baltacı, Oğuzhan Fatih; Çolakoğlu, Şeyma; Güllü Amuran, Gökçe; Aydın, Neslihan; Sargın, Mehmet; Karabay, Arzu; Yılmaz, Temel; Berber, Ergül (TUBITAK, 2018)Background/aim: MODY3 associated with HNF1A is the most common form of MODY and is clinically misdiagnosed as type 1 diabetes due to similar clinical symptoms. This study aimed to analyze the role of HNF1A-regulated miRNAs ... -
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L
Berber, Ergül; Özbil, Mehmet; Brown, Christine; Başlar, Zafer; Çağlayan, S. Hande; Lillicrap, David (SIMTI Servizi, 2017)Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). ... -
Higher expression of the novel gene upregulated gene 4 in two acute lymphoblastic leukemia patients with poor prednisolone response
Oymak, Yeşim; Dodurga, Yavuz; Türedi, Ayşen; Yaman, Yöntem; Özek, Gülcihan; Cartı, Özgür; Tatlı Güneş, Burçak; Erbudak, Esin; Berber, Ergül; Biray Avcı, Çığır; Vergin, Canan (Karger, 2012)Elucidation of the molecular mechanisms of leukemogenesis is important for a better understanding of the prognosis of acute lymphoblastic leukemia (ALL). Studies have shown that the expression of upregulated gene 4 (URG4), ... -
Lack of association of plasma factor XI with bleeding and report of two novel factor VII mutations
Keskin, E. Yılmaz; Ayhan, E.; Çolakoğlu, S.; Fettah, A.; Keskin, M.; Berber, Ergül (Pergamon-Elsevier Science, 2016)7th International Eurasian Hematology Congress -
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families
Çolakoğlu, Şeyma; Bayhan, Turan; Tavıl, Betül; Keskin Yılmaz, Ebru; Çakır, Volkan; Gümrük, Fatma; Çetin, Mualla; Aytaç, Selin; Berber, Ergül (Simti Servizi SRL, 2018)Background. Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been ... -
The molecular genetics of von willebrand disease
Berber, Ergül (2012)Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic ... -
Sex-change surgery in a type 3 VWD patient
Zülfikar, B.; Gurhan, O.; Bezgal, F.; Berber, Ergül (Wiley, 2011)… -
Whole exome sequencing reveals novel candidate gene variants for MODY
Çapan Yalçın, Özlem; Aydın, Neslihan; Yılmaz, Temel; Berber, Ergül (Elsevier, 2020)Maturity-onset diabetes of the young (MODY) is a monogenic subtype of diabetes mellitus. Although 14 genes were associated to different subtypes of MODY, 30-40% of MODY patients have unidentified genetic mutations. In this ...
