Browsing by Author "Sayitoglu, Muge"
Now showing items 1-11 of 11
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Activation-Induced cytidine deaminase (AID) and uracil N-glycosylase (UNG) novel homozygous gene variants in adult hyper-IgM syndrome
Activation-Induced Cytidine Deaminase (AID) and Uracil N-glycosylase (UNG) novel homozygous gene variants in adult hyper-IgM syndrome -
Dasatinib-related pleural effusion and lymphocytosis rates are different between adult and pediatric patients with Philadelphia chromosome-positive leukemias: are age and comorbidities only to blame?
Kilicarslan, Necati Alp; Borekci, Sermin; Ozdemir,Gul Nihal; Sayitoglu, Muge; Eskazan, Ahmet Emre (Taylor and Francis, 2022)No Abstract Available -
Lösemi modelinde tüm Genom RNA dizileme analiz algoritması geliştirilmesi
Sun Gungorurler, Eda; Sayitoglu, Muge (DergiPark, 2020)Amaç: RNA Dizileme teknolojisi gen anlatım farklılıkları ve kodlayan bölgedeki varyasyonlar, kodlama yapmayan küçük RNAların anlatımları ve gen füzyonlarının belirlenmesi ile bu farklılıkların nedenlerini sunabilmektedir. ... -
Lymphoma predisposing gene in an extended family: CD70 signaling defect
Khodzhaev, Khusan; Bay, Sema Buyukkapu; Kebudi, Rejin; Altindirek, Didem; Kaya, Aysenur; Erbilgin, Yucel; Ng, Ozden Hatirnaz; Kiykim, Ayca; Erol Cipe, Funda; Sen Zengin, Feride; Firtina, Sinem; Ng, Yuk Yin; Aksoy, Basak Adakli; Sayitoglu, Muge (Springer/Plenum Publishers, 2020)Genome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes. Within this group, primary immune deficiencies take the priority ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey
Firtina, Sinem; Ng, Yuk Yin; Ng, Ozden Hatirnaz; Kiykim, Ayca; Aydiner, Elif; Nepesov, Serdar; Camcioglu, Yildiz; Sayar, Esra H.; Reisli, Ismail; Torun, Selda H.; Cogurlu, Tuba; Uygun, Dilara; Simsek, Isil E.; Kaya, Aysenur; Erol Cipe, Funda; Cagdas, Deniz; Yucel, Esra; Cekic, Sukru; Uygun, Vedat; Baris, Safa; Ozen, Ahmet; Ozbek, Ugur; Sayitoglu, Muge (Wiley, 2020)Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
A novel candidate gene for predisposition of hodgkin lymphoma; Pregnan x receptor (PXR)
Kebudi, Rejin; Erbilgin, Yucel; Khodzhaev, Khusan; Saritas, Merve; Bozkurt, Ceyhun; Sayitoglu, Muge (AMER SOC HEMATOLOGY, 2021)No Abstract Available -
A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency
Firtina, Sinem; Erol Cipe, Funda; Ng, Yuk Yin; Kiykim, Ayca; Ng, Ozden Hatirnaz; Sudutan, Tugce; Aydogmus, Cigdem; Baris, Safa; Ozturk, Gulyuz; Aydiner, Elif; Ozen, Ahmet; Sayitoglu, Muge (Springer/Plenum Publishers, 2019)Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects ... -
Prognostic gene alterations and clonal changes in childhood B-ALL
Erbilgin, Yucel; Firtina, Sinem; Mercan, Sevcan; Ng, Ozden Hatirnaz; Karaman, Serap; Tasar, Orcun; Karakas Zeybek, Didem; Celkan, Tulin Tiraje; Zenging, Emine; Sarperg, Nazan; Yildirmak, Zeynep Yildiz; Sisko, Sinem; Ozbek, Ugur; Sayitoglu, Muge (Pergamon-Elsevier Science Ltd, 2019)Genomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined ... -
PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia
Kucukcankurt, Fulya; Erbilgin, Yucel; Firtina, Sinem; Ng, Ozden Hatirnaz; Karakas, Zeynep; Celkan, Tiraje; Unuvar, Aysegul; Ozbek, Ugur; Sayitoglu, Muge (Galenos Yayincilik, 2020)Objective: PTEN/AKT pathway deregulations have been reported to be associated with treatment response in acute leukemia. This study examined pediatric T-cell acute lymphoblastic leukemia (T-ALL) samples for PTEN and AKT1 ... -
Somatic hypermutation defects in two adult hyper immunoglobulin M patients
Yilmaz, Hulya; Firtina, Sinem; Saritas, Merve; Sayitoglu, Muge; Ar, Muslum Cem (Springer, 2022)Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, ... -
Tanısı zor tek gen hastalıklarında hedefe yönelik yeni nesil dizileme panel tasarımı: primer immün yetersizlik örneği
Firtina, Sinem; Hatirnaz Ng, Ozden; Sayitoglu, Muge; Yin Ng, Yuk (DergiPark, 2020)Amaç: Yeni nesil dizileme teknolojileri bugün çok sayıda aday genin, genomun tüm kodlayan bölgelerinin hatta tüm genomun analizini tek seferde ve kısa süre içerisinde düşük maliyet ve yüksek hassasiyette, güvenilir bir ...
