Search Results - "Gul, Davut"

Bombay Blood Group in a Turkish Family: Serological and Molecular Analysis by Çetinkaya, Rıza Aytaç, Yılmaz, Soner, Gül, Davut, Yılmaz, Sebahattin, Avcı, İsmail Yaşar, Eyigün, Can Polat

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The rate of pyrin mutations in critically ill patients with systemic inflammatory response syndrome and sepsis: a pilot study by Koc, Bayram, Oktenli, Cagatay, Bulucu, Fatih, Karadurmus, Nuri, Sanisoglu, S Yavuz, Gul, Davut

“…OBJECTIVE: The role of individual genetic differences in susceptibility to systemic inflammatory response syndrome (SIRS) and sepsis is generally unrecognized…”
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Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome by Gul, Davut, Ozcan, Ayhan, Hamcan, Salih, Basbozkurt, Gokalp, Zeybek, Cengiz, Gok, Faysal

“…Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement,…”
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A New Mutation in Blau Syndrome by Demirkaya, Erkan, Gul, Davut, Basbozkurt, Gokalp, Zeybek, Cengiz, Gok, Faysal

“…Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous…”
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Adipose tissue 11-beta-Hydroxysteroid Dehydrogenase Type 1 and Hexose-6-Phosphate Dehydrogenase gene expressions are increased in patients with type 2 diabetes mellitus by Üçkaya, Gökhan, Karadurmuş, Nuri, Kutlu, Onur, Çorakçı, Ahmet, Kızıldağ, Sefa, Ural, Ali Uğur, Gül, Davut, Kutlu, Mustafa

“…Abstract Aims We have determined 11-beta-Hydroxysteroid Dehydrogenase Type 1 (HSD11B1) and Hexose-6-Phosphate Dehydrogenase (H6PD) mRNA expression levels in…”
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Prenatal Diagnosis in a Family of TNFRSF11A (RANK) Gene Mutation Detection: A Case Report by Karkucak, Mutlu, Hafizoglu, Demet, Özemri Sag, Sebnem, Tanir Basaranoglu, Sevgen, Görükmez, Orhan, Sara Kiliç, Sebnem, Gülten, Tuna, Yakut, Tahsin, Kimya, Yalçin, Gül, Davut

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Goldenhar syndrome with duodenal atresia: a new finding by Hacıhamdioğlu, Bülent, Ünay, Bülent, Hacıhamdioğlu, Duygu Övünç, Vurucu, Sabahattin, Gül, Davut, Akın, Rıdvan

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance by Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Coban Akdemir, Zeynep, Shukla, Anju, Bierhals, Tatjana, Tabakci, Burcu, Sahin, Yavuz, Gezdirici, Alper, Fatih, Jawid M., Gulec, Elif Yilmaz, Yesil, Gozde, Punetha, Jaya, Ocak, Zeynep, Grochowski, Christopher M., Karaca, Ender, Albayrak, Hatice Mutlu, Radhakrishnan, Periyasamy, Erdem, Haktan Bagis, Sahin, Ibrahim, Yildirim, Timur, Bayhan, Ilhan A., Bursali, Aysegul, Elmas, Muhsin, Yuksel, Zafer, Ozdemir, Ozturk, Silan, Fatma, Yildiz, Onur, Yesilbas, Osman, Isikay, Sedat, Balta, Burhan, Gu, Shen, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Tsiakas, Konstantinos, Hempel, Maja, Girisha, Katta Mohan, Gul, Davut, Posey, Jennifer E., Elcioglu, Nursel H., Tuysuz, Beyhan, Lupski, James R.

“…Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian…”
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population by Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

“…Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or…”
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Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome by Oktenli, Cagatay, Saglam, Mutlu, Zafer, Emre, Gül, Davut

“…Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes,…”
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Exploiting spatial heterogeneity and response characterization in non-uniform architected materials inspired by slime mould growth by Ma, Chunping, Zhang, Daobo, Zhang, Zhiwei, Zhang, Hanqing, Schellenberg, Andrew, Gul, Davut, Feng, Peng, Hu, Nan

“…Inspired by shape-shifting features of slime mould growth, we implement a computational algorithm to study the nutrient-induced pattern formation and…”
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Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene by Ulucan, Hakan, Gül, Davut, Sapp, Julie C, Cockerham, John, Johnston, Jennifer J, Biesecker, Leslie G

“…Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an…”
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Heterotopic brain tissue on the face and neck in a neonate: A rare case report and literature review by Kurban, Yuksel, Sahin, Izzet, Uyar, Ibrahim, Deveci, Salih, Gul, Davut

“…Heterotopic brain tissue (HBT) most commonly occurs in the nasal region and it is often referred to as a nasal glioma. Nonnasal locations for ectopic brain…”
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A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients by Demirkaya, Erkan, Tunca, Yusuf, Gok, Faysal, Ozen, Seza, Gul, Davut

“…Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean…”
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Evaluation of the relationship between C677T variants of methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy by Vurucu, Sebahattin, Demirkaya, Erkan, Kul, Mustafa, Unay, Bulent, Gul, Davut, Akin, Rıdvan, Gokçay, Erdal

“…Homocysteine (Hcy) is a sulfur-containing amino acid involved in methionine metabolism. Elevated plasma Hcy concentration is a possible risk factor for…”
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Existe uma relação entre a artrite gotosa e as mutações genéticas da febre familiar do Mediterrâneo? by Sari, Ismail, Simsek, Ismail, Tunca, Yusuf, Kisacik, Bunyamin, Erdem, Hakan, Pay, Salih, Cay, Hasan Fatih, Gul, Davut, Dinc, Ayhan

“…A artrite gostosa e a febre familiar do Mediterrâneo (FFM) compartilham algumas características clínicas e patológicas, como ser classificada como uma doença…”
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Prenatal Diagnosis in a Family of TNFRSF11A Gen Mutasyonu Saptanan Bir Ailede Prenatal Tani: Bir Olgu Sunumu by Karkucak, Mutlu, Hafizoglu, Demet, Sag, Sebnem Ozemri, Basaranoglu, Sevgen Tanir, Gorukmez, Orhan, Kilic, Sebnem Sara, Gulten, Tuna, Yakut, Tahsin, Kimya, Yalcin, Gul, Davut

“…Autosomal recessive osteoporosis (ARO) is a severe disease causing death usually at infancy or childhood. RANKL coded by TNFSF11 gene and RANK coded by…”
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Giant vesical diverticulum, unilateral renal agenesis and mental retardation: an unusual association by Ovunc Hacihamdioglu, Duygu, Kibar, Yusuf, Gul, Davut, Kocaoglu, Murat, Gok, Faysal

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The rate of pyrin mutations in critically III patients with systemic inflammatory response syndrome and sepsis : A pilot study by KOC, Bayram, OKTENLI, Cagatay, BULUCU, Fatih, KARADURMUS, Nuri, YAVUZ SANISOGLU, S, GUL, Davut

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Electronic microarray screening of podocin mutations: a single-center study by Sakallioglu, Onur, Gok, Faysal, Kalman, Suleyman, Gul, Davut, Barutcu, Hande, Cengız, Nurcan, Baskin, Esra

“…Background Because of resistance to immunosuppressants in nephrotic syndrome and reduction of proteinuria relapses following renal transplantation, it seems…”
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