Search Results - "Torun, Deniz"

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin by Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M, Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W, Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A, Boerwinkle, Eric, Gibbs, Richard A, Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R

“…Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more…”
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey by Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal

“…Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss,…”
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Effects of triethylene glycol dimethacrylate (TEGDMA) on the odontoclastic differentiation ability of human dental pulp cells by Öncel Torun, Zeynep, Torun, Deniz, Baykal, Barış, Öztuna, Ali, Yeşildal, Fatih, Avcu, Ferit

“…The primary purpose of this study was to examine the effects of triethylene glycol dimethacrylate (TEGDMA) on odontoclastic differentiation in the dental pulp…”
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Gene expression changes in bioceramic paste-treated human dental pulp cells by Torun, Deniz, Torun, Zeynep Ö., Demirkaya, Kadriye, Sarper, Meral, Elçi, Mualla P., Avcu, Ferit

“…We evaluated the gene expression profiles of human dental pulp cells exposed to iRoot BP using microarray after 24 and 72 h. The results were verified using…”
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Increased Endothelial Dysfunction and Insulin Resistance in Patients with Klinefelter Syndrome by Haymana, Cem, Aydogdu, Aydogan, Demirci, Ibrahim, Dinc, Mustafa, Demir, Orhan, Torun, Deniz, Yesildal, Fatih, Meric, Coskun, Basaran, Yalcin, Sonmez, Alper, Azal, Omer

“…Patients with Klinefelter Syndrome (KS) have increased cardiometabolic risk however the pathogenesis is not clear. We investigated the presence of endothelial…”
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Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey by Torun, Deniz, Akin, Onur

“…Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome…”
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Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey by Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal

“…Correction to: Journal of Human Genetics (2015) 60, 1–9; doi:10.1038/jhg.2014.85; published online 9 October 2014 Since the advance online publication of this…”
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High frequency of MEFV gene mutations in patients with myeloid neoplasm by Oktenli, Cagatay, Sayan, Ozkan, Celik, Serkan, Erikci, Alev A., Tunca, Yusuf, Terekeci, Hakan M., Umur, Elcin Erkuvan, Sanisoglu, Yavuz S., Torun, Deniz, Tangi, Fatih, Sahan, Burak, Nalbant, Selim

“…We aimed to investigate the rate of MEFV , the gene mutated in familial Mediterranean fever, mutations in patients with myeloid neoplasm and to determine if…”
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The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery by Yilmaz, Sedat, Erdem, Hakan, Tunay, Servet, Torun, Deniz, Genc, Halil, Tunca, Yusuf, Karadag, Omer, Simsek, Ismail, Bahce, Muhterem, Pay, Salih, Dinc, Ayhan

“…Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was…”
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Methylation of SOCS3 in Myeloproliferative Neoplasms and Secondary Erythrocytosis/Thrombocythemia by Torun, Deniz, Nevruz, Oral, Akyol, Mesut, Kozan, Salih, Bahçe, Muhterem, Güran, Sefik, Beyan, Cengiz

“…Myeloproliferative neoplasms (MPNs) like essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) are acquired clonal…”
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Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok‐Fisher syndrome suggests the presence of a POU3F3‐related SNIBFIS endophenotype: A case report by Torun, Deniz, Arslan, Mutluay, Yüksel, Zafer

“…POU3F3 proteins are eukaryotic transcription factors and contribute to the processes in the development of brain and kidney. Pathogenic POU3F3 variants cause a…”
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Joubert syndrome with oculomotor apraxia: a case report by Rosti, Rasim Özgür; GATA Tıbbi Genetik BD, Kozan, Salih; GATA Tıbbi Genetik BD, Torun, Deniz; GATA Tıbbi Genetik BD, Bahçe, Muhterem; GATA Tıbbi Genetik BD, Güran, Şefik; GATA Tıbbi Biyoloji AD

“…In this paper,  a 7 month old male case born to a first degree cousin marriage, referred to our department for oculomotor apraxia and hypotonia, diagnosed as…”
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Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome by Torun, Deniz, Arslan, Mutluay, Çavdarlı, Büşranur, Akar, Hatice, Cram, David Stephen

“…Background. METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with…”
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Mitochondrial complex I and III mRNA levels in bipolar disorder by Akarsu, Süleyman, Torun, Deniz, Erdem, Murat, Kozan, Salih, Akar, Hatice, Uzun, Ozcan

“…Abstract Background Studies that have focused on the mitochondrial electron transport chain indicate that bipolar disorder (BD) is associated with pathology in…”
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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum by Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

“…POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and…”
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Hypoxia inhibits mineralization ability of human dental pulp cells treated with TEGDMA but increases cell survival in accordance with the culture time by Öncel Torun, Zeynep, Torun, Deniz, Demirkaya, Kadriye, Yavuz, Süleyman Tolga, Sarper, Meral, Avcu, Ferit

“…Highlights • TEGDMA treated human dental pulp cells were grown in the presence of 3% or 21% O2. • Hypoxia leads to increase in the survival of pulp cells…”
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Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study by Koylu, Mehmet Talay, Kucukevcilioglu, Murat, Erdurman, Fazil Cuneyt, Durukan, Ali Hakan, Sobacı, Gungor, Torun, Deniz, Tunca, Yusuf, Ayyildiz, Onder

“…To compare homocysteine and thrombophilic mutations for the methylenetetrahydrofolate reductase (MTHFR) C677T, factor V Leiden, and prothrombin G20210A between…”
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Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype by Rosti, Rasim O., Karaer, Kadri, Karaman, Birsen, Torun, Deniz, Guran, Sefik, Bahce, Muhterem

“…Gorlin–Chaudhry–Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis,…”
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Mitochondrial complex I and III gene mRNA levels in schizophrenia, and their relationship with clinical features by Akarsu, Süleyman, Torun, Deniz, Bolu, Abdullah, Erdem, Murat, Kozan, Salih, Ak, Mehmet, Akar, Hatice, Uzun, Özcan

“…The etiology of schizophrenia is not precisely known; however, mitochondrial function and cerebral energy metabolism abnormalities were determined to be…”
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Karyotype Analysis Results in Girls Followed with Short Stature by TORUN, Deniz, AKIN, Onur, KAVUŞ, Haluk, ÖZTUNA, Ali, AKAR, Hatice, TUNCA, Yusuf

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