Search Results - "Yuksel, Sirin"

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    Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma by Ülgen, Ege, Can, Özge, Bilguvar, Kaya, Akyerli Boylu, Cemaliye, Kılıçturgay Yüksel, Şirin, Erşen Danyeli, Ayça, Sezerman, O Uğur, Yakıcıer, M Cengiz, Pamir, M Necmettin, Özduman, Koray

    Published in BMC medical genomics (23-02-2021)
    “…In the clinical setting, workflows for analyzing individual genomics data should be both comprehensive and convenient for clinical interpretation. In an effort…”
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    Journal Article
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    Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms by Ülgen, Ege, Karacan, Sıla, Gerlevik, Umut, Can, Özge, Bilguvar, Kaya, Oktay, Yavuz, B Akyerli, Cemaliye, K Yüksel, Şirin, E Danyeli, Ayça, Tihan, Tarık, Sezerman, O Uğur, Yakıcıer, M Cengiz, Pamir, M Necmettin, Özduman, Koray

    Published in Biomedicines (07-12-2020)
    “…Little is known about the mutational processes that shape the genetic landscape of gliomas. Numerous mutational processes leave marks on the genome in the form…”
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    Is 1p36 deletion associated with anterior body wall defects? by Çöllü, Medis, Yüksel, Şirin, Şirin, Başak Kumbasar, Abbasoğlu, Latif, Alanay, Yasemin

    “…Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most…”
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    Novel Mutation of Aspartoacylase Gene in a Turkish Patient with Canavan Disease by Unalp, Aycan, Altiok, Ender, Uran, Nedret, Öztürk, Aysel, Yüksel, Şirin

    Published in Journal of tropical pediatrics (1980) (01-06-2008)
    “…Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population,…”
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    Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006 by Altiok, Ender, Taylan, Fulya, Yenen, Osman S, Demirkeser, Gülşah, Bozaci, Mürvet, Onel, Derya, Akcadag, Birsen, Iyisan, A Selma, Ciblak, Meral, Bozkaya, Emel, Yuksel, Sirin, Badur, Selim

    Published in Emerging infectious diseases (01-03-2008)
    “…We report mutations in influenza A virus (H5N1) strains associated with 2 outbreaks in Turkey. Four novel amino acid changes (Q447L, N556K, and R46K in RNA…”
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    Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer by Keskin Karakoyun, Hilal, Yüksel, Şirin K, Amanoglu, Ilayda, Naserikhojasteh, Lara, Yeşilyurt, Ahmet, Yakıcıer, Cengiz, Timuçin, Emel, Akyerli, Cemaliye B

    Published in Frontiers in genetics (21-02-2023)
    “…Identifying pathogenic missense variants in hereditary cancer is critical to the efforts of patient surveillance and risk-reduction strategies. For this…”
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    Analysis of mitochondrial DNA control region D-Loop in gliomas: Result of 52 patients by Kiliçturgay Yüksel, Şirin, Özduman, Koray, Yilmaz, Engin, Pamir, M. Necmettin, Boylu Akyerli, Cemaliye

    Published in Turkish neurosurgery (01-01-2021)
    “…Role of extrachromosomal DNA in cancer and the consequences of mutations are unclear. However, mitochondrial DNA (mtDNA) variants in the D-loop region have…”
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    Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31 by Bayri, Yasar, Soylemez, Burcak, Seker, Askin, Yuksel, Sirin, Tanrikulu, Bahattin, Unver, Olcay, Canbolat, Cagrı, Sakar, Mustafa, Kardag, Ozen, Yakicier, Cengiz, Dagcinar, Adnan, Ziyal, Ibrahim, Bayrakli, Fatih

    Published in Child's nervous system (01-08-2015)
    “…Purpose Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few…”
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    Journal Article
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    Toward In Vitro Epigenetic Drug Design for Thyroid Cancer: The Promise of PF-03814735, an Aurora Kinase Inhibitor by Dalva-Aydemir, Sevim, Akyerli, Cemaliye Boylu, Yüksel, Şirin Kılıçturgay, Keskin, Hilal, Yakıcıer, Mustafa Cengiz

    Published in Omics (Larchmont, N.Y.) (01-10-2019)
    “…Thyroid cancer (TC) is a very common malignancy worldwide. Chief among the innovative molecular drug targets for TC are epigenetic modifications. Increased…”
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    Journal Article
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    Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype by Bayrakli, Fatih, Guclu, Bulent, Yakicier, Cengiz, Balaban, Hatice, Kartal, Ugur, Erguner, Bekir, Sagiroglu, Mahmut Samil, Yuksel, Sirin, Ozturk, Ahmet Rasit, Kazanci, Burak, Ozum, Unal, Kars, Hamit Zafer

    Published in BMC genetics (28-09-2013)
    “…Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals…”
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    Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtype by Bayrakli, Fatih, Guclu, Bulent, Yakicier, Cengiz, Balaban, Hatice, Kartal, Ugur, Erguner, Bekir, Sagiroglu, Mahmut Samil, Yuksel, Sirin, Ozturk, Ahmet Rasit, Kazanci, Burak, Ozum, Unal, Kars, Hamit Zafer

    Published in BMC genetics (28-09-2013)
    “…Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals…”
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    Journal Article
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    Lack of hotspot mutations other than TP53 R249S in aflatoxin B1 associated hepatocellular carcinoma: Aflatoksin B1 kaynaklı hepatosellüler karsinomlarda özgün TP53 R249S dışındaki mutasyonların eksikliği by Akyerli, Cemaliye B., Yüksel, Şirin K., Yakıcıer, M. Cengiz

    Published in Turkish Journal of Biochemistry (02-10-2020)
    “…Abstract Objective Despite the recent advances in diagnosis and treatment of hepatocellular carcinoma (HCC), it is still a major health problem. Therefore,…”
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