Search Results - "Ilgın Ruhi,Hatice"

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment by Kaymak Cihan, Meriç, Karabulut, Halil Gürhan, Yürür Kutlay, Nüket, Ilgın Ruhi, Hatice, Tükün, Ajlan, Olcay, Lale

“…Glucocorticoids (GCs) are the key drugs for the treatment of pediatric acute lymphoblastic leukemia (ALL). Herein, investigation of the relationship between…”
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Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia by Durmaz, Ceren Damla, Karabulut, Halil Gürhan, Saka, Meram Can, Sucularlı, Ceren, Gümüş Akay, Güvem, Atbaşoğlu, Cem, Ilgın Ruhi, Hatice

“…encodes Dexamethasone-induced Ras-related protein 1 (Dexras1), a protein with a critical role in signal transduction in neurons. There is a strong suspicion…”
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Bilateral choanal atresia in an adult woman with pycnodysostosis by Durmaz, Ceren Damla, Taş, Vedat, Kocaay, Pınar, Fitöz, Ömer Suat, Onay, Hüseyin, Beton, Süha, Özkınay, Ferda, Ilgın Ruhi, Hatice

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Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS) by Gökpınar İli, Ezgi, Taşdelen, Elifcan, Durmaz, Ceren Damla, Altıner, Şule, Tuncalı, Timur, Martinez‐Glez, Victor, Karabulut, Halil Gürhan, Vural, Seçil, Ceylaner, Serdar, Acar, Mustafa Oğuz, Ilgın Ruhi, Hatice

“…Somatic and germline PI3K‐AKT‐mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA‐related overgrowth…”
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Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer by Altıner, Şule, Yürür Kutlay, Nüket, Ilgın Ruhi, Hatice

“…Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic…”
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Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene by Vural, Seçil, Ertop, Pelin, Durmaz, Ceren D, Şanlı, Hatice, Okçu Heper, Aylin, Kundakçı, Nihal, Karabulut, Halil G, Ilgın Ruhi, Hatice

“…H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and…”
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De novo germline TP53 mutation in a pediatric patient with Li–Fraumeni syndrome and diffuse peritoneal mesothelioma by Ortaköylü, Melek Yaman, Özdemir, Sonay İncesoy, Dinçaslan, Handan, Taçyıldız, Nurdan, Ateş, Ufuk, Ünal, Ali Ekrem, Soydal, Çiğdem, Fitoz, Ömer Suat, Karabulut, Halil Gürhan, Ruhi, Hatice Ilgın, Ünal, Emel Cabi

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The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex chromosome DSD? by Öcal, Gönül, Berberoğlu, Merih, Şıklar, Zeynep, Ruhi, Hatice Ilgın, Tükün, Ajlan, Çamtosun, Emine, Erdeve, Şenay Savaş, Hacıhamdioğlu, Bülent, Fitöz, Suat

“…Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation…”
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A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome by Altiner, Şule, Karabulut, Halil G, Yararbaş, Kanay, Tükün, Ajlan, Collet, Corinne, Kocaay, Pinar, Berberoğlu, Merih, Ilgin Ruhi, Hatice

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Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency by Durmaz, Ceren Damla, Altıner, Şule, Taşdelen, Elifcan, Karabulut, Halil Gürhan, Ruhi, Hatice Ilgın

“…The 17q22 contiguous microdeletion syndrome is a recently described chromosomal disorder. Clinical features are heterogeneous because of variable deletion…”
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Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey by Kan Karaer, Derya, Ergün, Mehmet Ali, Ruhi, Hatice Ilgın, Öztürk, Jale, Kara, Halil, Reisoğlu Çakmak, Deniz, Aydoğmuş, Talihanur, Perçin, Emriye Ferda

“…IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish…”
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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia by Kiraz, Aslıhan, Sezer, Ozlem, Alemdar, Adem, Canbek, Sezin, Duman, Nilgun, Bisgin, Atıl, Cora, Tulin, Ruhi, Hatice Ilgın, Ergoren, Mahmut Cerkez, Geçkinli, Bilgen Bilge, Sag, Sebnem Ozemri, Gözden, Hilmi Erdem, Oz, Ozlem, Altıntaş, Zuhal Mert, Yalcıntepe, Sinem, Keskin, Adem, Tak, Ayşegül Yabacı, Paskal, Şeyma Aktaş, Yürekli, Uğur Fahri, Demirtas, Mercan, Evren, Emine Unal, Hanta, Abdullah, Başdemirci, Müşerref, Suer, Kaya, Balta, Burhan, Kocak, Nadir, Karabulut, Halil Gürhan, Cobanogulları, Havva, Ateş, Esra Arslan, Bozdoğan, Sevcan Tuğ, Eker, Damla, Ekinci, Sadiye, Nergiz, Süleyman, Tuncalı, Timur, Yagbasan, Serap, Alavanda, Ceren, Kutlay, Nuket Yurur, Evren, Hakan, Erdoğan, Murat, Altıner, Sule, Sanlidag, Tamer, Gonen, Gizem Akıncı, Vicdan, Arzu, Eras, Nazan, Eker, Hatice Koçak, Balasar, Ozgür, Tuncel, Gulten, Dundar, Munis, Gurkan, Hakan, Temel, Sehime Gulsun

“…Thrombotic and microangiopathic effects have been reported in COVID‐19 patients. This study examined the contribution of the hereditary thrombophilia factors…”
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A case of Tricorhinophalangeal syndrome by Erdi Şanlı, Hatice, Parlak, Nehir, Akay, Bengü Nisa, Ilgın Ruhi, Hatice, Öktem, Başak

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Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report by Gürbüz-Köz, Ozlem, Atalay, Tuba, Köz, Cem, Ilgin-Ruhi, Hatice, Yarangümeli, Alper, Kural, Gülcan

“…The aim of this presentation was to report a case with Axenfeld-Rieger syndrome (ARS) associated with truncus arteriosus (TA). We present a 14-year-old boy…”
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Genetic Mechanisms of Sex Development and New Approaches by Ruhi, Hatice Ilgin

“…Sexual development is an extremely complex process. The disruptions in this process can evince as disorders of sex development (DSDs). DSDs are defined as…”
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Akut miyeloid lösemide kromozomal anomaliler: Tek merkezden 417 olgunun sitogenetik sonuçları by Akalın,İbrahim, Karabulut,Halil Gürhan, Yürür Kutlay,Nüket, Ilgın Ruhi,Hatice, Tükün,Fatma Ajlan, Sağlam,Burcu, Tuncalı,Timur, Vicdan,Nedime Arzu, Sadeghi,Faika

“…Amaç: Lösemi hastalarının tanısında ve izleminde sitogenetik belirteçlerin önemli rolü vardır. Lösemiler içinde akut miyelositer lösemi (AML) hastalarında,…”
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Analysis of Xq27.3 fragility using the micronucleus-fluorescence In situ hybridization assay by Ozer, Leyla, Ruhi, Hatice, Bökesoy, Isik

“…Chromosome fragile sites tend to form gap or break in chromosomes following when the cell exposed to replication stress. Folic acid deprivation in the culture…”
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Three Male Cases with Isodicentric Y Chromosome Mosaicism Including 45,X Cell Line by Altiner, Sule, Türedi, Özlem, Ruhi, Hatice Ilgin

“…Objectives: 45,X/46,X,idic(Y)(q10) mosaicism with variable phenotypes is considered to be a rare sex chromosomal disorder. Here, we report three cases of…”
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium by Yildiz, Saliha Handan, Akin, Haluk, Artan, Sevilhan, Sahin, Feride Iffet, Bisgin, Atil, Ozdemir, Ozturk, Bagis, Haydar, Yuce, Huseyin, Duman, Nilgun, Bozkurt, Gokay, Mihci, Ercan, Altintas, Zuhal Mert, Tatar, Abdulgani, Ergoren, Mahmut Cerkez, Altunoglu, Umut, Caglayan, Ahmet Okay, Yuksel, Berrin, Ozkul, Yusuf, Saatci, Cetin, Kenanoglu, Sercan, Karasu, Nilgun, Dundar, Bilge, Ozcelik, Firat, Siniksaran, Betul Seyhan, Kulak, Hande, Kazimli, Ulviyya, Dundar, Ayca, Bayram, Arslan, Subasioglu, Asli, Karaduman, Neslihan, Kandemir, Nefise, Emekli, Rabia, Sahin, Izem Olcay, Ozdemir, Sevda Yesim, Onal, Muge Gulcihan, Gursoy, Sebnem, Calis, Mustafa, Demir, Huseyin, Zararsiz, Gozde Erturk, Erdogan, Mujgan Ozdemir, Elmas, Muhsin, Solak, Mustafa, Thahir, Adam, Aydin, Zafer, Atasever, Umut, Sag, Sebnem Ozemri, Aliyeva, Lamiya, Dogan, Berkcan, Erguzeloglu, Cemre Ornek, Cogulu, Ozgur, Durmaz, Burak, Aykut, Ayca, Cilingir, Oguz, Aras, Beyhan Durak, Gokalp, Ebru Erzurumluoglu, Arslan, Serap, Haziyeva, Konul, Bas, Hasan, Sarac, Elif, Kocak, Nadir, Nergiz, Suleyman, Terzi, Yunus Kasim, Dincer, Selin Akad, Genc, Gunes Cakmak, Bahadir, Oguzhan, Yalcintepe, Sinem, Kiraz, Aslihan, Balta, Burhan, Ceylan, Gulay Gulec, Erten, Sukran, Bozdogan, Sevcan Tug, Boga, Ibrahim, Yilmaz, Mustafa, Kocabey, Mehmet, Bozkaya, Ozlem Giray, Ercal, Derya, Ergun, Sezen Guntekin, Duman, Yesim Sidar, Beyazit, Serife Busra, Uzel, Veysiye Hulya, Cevik, Muhammer Ozgur, Eroz, Recep, Demirtas, Mercan, Kabayegit, Zehra Manav, Altan, Mustafa, Geckinli, Bilgen Bilge, Ates, Esra Arslan, Toylu, Asli, Bayramicli, Oya Uygur, Emmungil, Hakan, Komesli, Zeynep, Zeybel, Mujdat, Gurakan, Figen, Karabulut, Halil Gurhan, Tuncali, Timur, Onder, Nerin Bahceciler, Tulay, Pinar, Tosun, Ozgur, Kale, Hamdi, Erdem, Levent

“…Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations,…”
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The genotoxic effects of hepatitis B virus to host DNA by Özkal, Pınar, Ilgın-Ruhi, Hatice, Akdoğan, Meral, Elhan, Atilla Halil, Kaçar, Sabite, Şaşmaz, Nurgül

“…Chronic viral hepatitis is the main cause of chronic liver disease, cirrhosis and hepatocellular carcinoma throughout the world. Hepatitis B virus (HBV) has…”
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