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Page 1
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST, Mujde C, Boga I, Sonmezler O, Hanta A, Rencuzogullari C, Ozcan D, Altintas DU, Bisgin A. Bozdogan ST, et al. Genes (Basel). 2021 Jan 31;12(2):206. doi: 10.3390/genes12020206. Genes (Basel). 2021. PMID: 33572515 Free PMC article.
The distribution of mutation frequencies in our study showed a difference from those previously reported; for example, the well-known p.F508del was the third most common (n = 42 alleles), rather than the first. The most striking finding is that 313 cases had a pathogenic v …
The distribution of mutation frequencies in our study showed a difference from those previously reported; for example, the well-known p.F508 …
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Efthymiou S, Leo CP, Deng C, Lin SJ, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D. Efthymiou S, et al. Am J Hum Genet. 2025 May 1;112(5):1117-1138. doi: 10.1016/j.ajhg.2025.03.015. Epub 2025 Apr 16. Am J Hum Genet. 2025. PMID: 40245862 Free PMC article.
Real-World Comparison of Short-Term Adverse Events, Treatment Persistence, and Efficacy of Semaglutide and Tirzepatide: A Nationwide Multicenter Study.
Hepşen S, Haymana C, Ertepe Küçükgöde G, Özcan B, Özbaş B, Or Koca A, Aydoğan Bİ, Tura Bahadır Ç, Durcan E, Yumuk V, Toros B, Alphan Üç Z, Önder ÇE, Karaca Karagöz Z, Aşık M, Öztürk Y, Kocabaş M, Karaköse M, Bostan H, Kıyıcı S, Salman S, Gogas Yavuz D, Göksoy Solak Y, Daloğlu OO, Eren MA, Doğanay Ş, Güven M, Kaplan GI, Cesur M, Demir Önal E, Ertek Yalçın S, Ağbaht K, Baloğlu Akyol EM, Genç S, Özer Ö, Şimşek Y, Topaloğlu Ö, Acıbucu F, Bozdoğan ME, Karagün B, Emral R, Tan SB, İnce YE, Akkuş G, Cansu GB, Saltabaş MA, Çakır B, Karaahmetli G, Alkan S, Demirpençe M, Taşkaldıran I, Tanrıkulu S, Bozkırlı E, Turgut S, Dereli Akdeniz D, Gültekin AC, Cerit ET, Omma T, Can B, Soylu H, Uzun YE, İpekçi SH, Telci Çaklılı Ö, Ünal MÇ, Elbüken G, İçin BB, Kır Y, Batman A, Güney SC, Ertürk B, Akhanlı P, Çatak M, Kargılı Çarlıoğlu A, Güzel Esen S, Doğruel H, Yıldız İ, Özsoy K, Demirci İ, Çakal E, Bayram F, Sönmez A. Hepşen S, et al. Obes Facts. 2026 Apr 24:1-17. doi: 10.1159/000552104. Online ahead of print. Obes Facts. 2026. PMID: 42030208 Free PMC article.
METHODS: This study included 2,549 patients with obesity treated with semaglutide (n = 1,434) or tirzepatide (n = 1,115). Adverse events, including time to onset, dose at occurrence, and related discontinuation, were evaluated. ...
METHODS: This study included 2,549 patients with obesity treated with semaglutide (n = 1,434) or tirzepatide (n = 1,115). Adve …
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. Karaca E, et al. Genet Med. 2018 Dec;20(12):1528-1537. doi: 10.1038/gim.2018.33. Epub 2018 Apr 26. Genet Med. 2018. PMID: 29790871 Free PMC article.
[Prevalence of Echinococcus granulosus determined with polymerase chain reaction in dogs in Aydın district].
Kuru BB, Aypak S, Aysul N. Kuru BB, et al. Turkiye Parazitol Derg. 2013;37(2):78-83. doi: 10.5152/tpd.2013.20. Turkiye Parazitol Derg. 2013. PMID: 23955903 Free article. Turkish.
METHODS: Clean and fresh faeces samples were collected off the ground from owned dogs (n=100; 25 female, 75 male) with the range of 6-16 months old. These faeces samples were obtained in 13 villages from five different locations (Centre, Soke, Cine, Bozdogan and Kuy …
METHODS: Clean and fresh faeces samples were collected off the ground from owned dogs (n=100; 25 female, 75 male) with the range of 6 …
Epidemiology and histopathological spectrum of appendiceal pathologies in 40.286 adults: a multicenter study from Turkey (2017-2025).
Özel HP, Ertenlice A, Er S; Anatolian Appendicitis Study Group-16; Akgül Ö, Akın T, Çetinkaya E, Bal Ş, Satıroğlu M, Birben B, Değirmencioğlu G, Özden S, Yıldız Ü, Demir A, Eryılmaz MA, Sevim Y, Şimşek EÖ, Yalçın H, Yüksel C, Doğan İ, Topçu R, Canal K, Kaymak T, Tutan MB, Göktaş A, Ordu M, Çalık V, Sözen İ, Çelik G, Turan B, Peksöz R, Albayrak Y, Bingöl F, Temiz A, Fakirullahoğlu M, Özdemir DB, Senol S, Bakır H, Tarım İA, Derebey M, Güngör BB, Aydoğdu YE, Pehlivanlı F, Aydın O, Özdemir M, Özkul T, Bozdoğan AF, Er BK, Öksüz P, Tez M. Özel HP, et al. Eur J Trauma Emerg Surg. 2026 Mar 2;52(1):75. doi: 10.1007/s00068-025-03062-8. Eur J Trauma Emerg Surg. 2026. PMID: 41770340
The average age was 36.01 14.87 years, with 40.2% of patients being female (n = 16,186) and 59.8% being male (n = 24,100). Histopathological distribution: appendicitis 86.7% (n = 34,910, 74.8% uncomplicated, 11.4% complicated), no significant findings 4.8%, …
The average age was 36.01 14.87 years, with 40.2% of patients being female (n = 16,186) and 59.8% being male (n = 24,100). H …
Molecular identification of Neoechinorhynchus rutili parasite diagnosed in some fish species caught in Menzelet dam lake in Kahramanmaras province (Turkey).
Özcan M, Bozdoğan N. Özcan M, et al. Saudi J Biol Sci. 2020 Jul;27(7):1717-1721. doi: 10.1016/j.sjbs.2020.04.047. Epub 2020 May 7. Saudi J Biol Sci. 2020. PMID: 32565687 Free PMC article. Review.
Using staining methods and based on morphology, 120 N. rutili specimens were identified. DNA isolation of N. rutili was accomplished using special tissue sets for parasites. Specific primers were utilized in the molecular identification of N. rutili using pol …
Using staining methods and based on morphology, 120 N. rutili specimens were identified. DNA isolation of N. rutili was accomp …
Prevention of the harmful effects of free oxygen radicals by using N-acetylcysteine in testicular torsion.
Tangül SU, Çakmak AM, Çağlayan O, Bozdoğan Ö. Tangül SU, et al. J Pediatr Urol. 2020 Feb;16(1):42.e1-42.e8. doi: 10.1016/j.jpurol.2019.10.028. Epub 2019 Nov 6. J Pediatr Urol. 2020. PMID: 31882389
The rats were randomly divided into 4 groups: sham (n = 8), ischemia-reperfusion (n = 8), ischemia-NAC -reperfusion (n = 10), and ischemia-NAC-reperfusion-NAC (n = 10) groups. ...Although NAC can prevent tissue damage from ischemia reperfusion injury, …
The rats were randomly divided into 4 groups: sham (n = 8), ischemia-reperfusion (n = 8), ischemia-NAC -reperfusion (n …
LI-RADS Treatment Response Algorithm: Performance and Diagnostic Accuracy.
Shropshire EL, Chaudhry M, Miller CM, Allen BC, Bozdogan E, Cardona DM, King LY, Janas GL, Do RK, Kim CY, Ronald J, Bashir MR. Shropshire EL, et al. Radiology. 2019 Jul;292(1):226-234. doi: 10.1148/radiol.2019182135. Epub 2019 Apr 30. Radiology. 2019. PMID: 31038409 Free PMC article.
56 results