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Whole-exome sequencing revealed two novel mutations in Usher syndrome

Koparır, Asuman; Karataş, Ömer Faruk; Atayoğlu, Ali Timuçin; Yüksel, Bayram; Sağıroğlu, Mahmut Şamil; Seven, Mehmet; Ulucan, Hakan; Yüksel, Adnan; Özen, Mustafa (Elsevier Science Bv., 2015)

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we ...

Diagnostic value of upar, IL-33, and ST2 levels in childhood sepsis

Çekmez, Ferhat; Fidancı, M. Kürşat; Ayar, Ganime; Saldır, Mehmet; Karaoğlu, Abdulbaki; Gündüz, Ramiz C.; Tunç, Turan; Kalkan, Gökhan (Clin Lab Publ, 2016)

Background: The aim of this study was to evaluate the diagnostic value of Upar, IL-33, and ST2 in comparison with C-reactive protein, TNF-alpha, and Interleukin-6 in childhood sepsis. Methods: A total of 128 children were ...

Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease

Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Çoban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Işıkay, Sedat; Yeşil, Gözde; Yüregir, Özge Özallp; Bozdoğan, Sevcan Tuğ; Aslan, Hüseyin; Aydın, Hatip; Tos, Tülay; Aksoy, Ayşe; De Vivo, Darryl C.; Jain, Preti; Geçkinli, B. Bilge; Sezer, Özlem; Gül, Davut; Durmaz, Burak; Coğulu, Özgür; Özkınay, Ferda; Topçu, Vehap; Candan, Şükrü; Çebi, Alper Han; İkbal, Mevlit; Güleç, Elif Yılmaz; Gezdirici, Alper; Koparır, Erkan; Ekici, Fatma; Coşkun, Salih; Çiçek, Salih; Karaer, Kadri; Koparır, Asuman; Düz, Mehmet Buğrahan; Kırat, Emre; Fenercioğlu, Elif; Ulucan, Hakan; Seven, Mehmet; Güran, Tülay; Elçioğlu, Nursel; Yıldırım, Mahmut Selman; Aktaş, Dilek; Alikaşifoğlu, Mehmet; Türe, Mehmet; Yakut, Tahsin; Overton, John D.; Yüksel, Adnan; Özen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R. (Cell Press, 2015)

Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ...

Diagnostic value of presepsin in detection of early-onset neonatal sepsis

Özdemir, Abdurrahman A.; Elgörmüş, Yusuf (Thieme Medical Publ Inc, 2017)

ObjectiveThe aim of this study was to evaluate the efficacy of presepsin in both diagnosis and follow-up of early-onset neonatal sepsis (EOS) and also to compare its effectiveness with C-reactive protein (CRP) and procalcitonin ...

Long-term outcomes in pediatric appendiceal carcinoids: Turkey experience

Akova, Fatih; Aydın, Emrah; Eray, Y. Nur; Toksoy, Nurseli; Yalçın, Şenay; Altınay, Serdar; Tetikkurt, Ümit Seza (Springer, 2018)

The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the ...

Respiratory severity score and its association with adverse outcomes in extremely low birth weight infants undergoing invasive mechanical ventilation

Dursun, Mesut; Zübarioğlu, Umut (Tehran University of Medical Sciences, 12.2021)

Background: Respiratory severity score (RSS) is a simple, non-invasive respiratory failure assessment tool that its appropriateness for lung disease severity is well-established. Objectives: This study aimed to investigate ...