Başlık için Çocuk Sağlığı Enstitüsü Makale Koleksiyonu listeleme

Toplam kayıt 11, listelenen: 7-11

    • Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency 

      Balta, Günay; Gümrük, F.; Akarsu, N.; Gürgey, A.; Altay, C. (Amer Soc Hematology, 2003)
      Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ...

    • Myocilin Mt1 Promoter Polymorphism In Turkish Patients With Primary Open Angle Glaucoma 

      Özgül, Rıza Köksal; Bozkurt, B.; Orcan, S.; Bulur, B.; Bagiyeva, S.; İrkeç, M.; Ogus, A. (Molecular Vision, 2005)
      Purpose: To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients. ...

    • Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome 

      Taşkesen, Mustafa; Collin, Gayle B.; Evsikov, Alexei V.; Güzel, Ayşegül; Özgül, Rıza Köksal; Marshall, Jan D.; Naggert, Juergen K. (Springer, 2012)
      Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...

    • Prognostic Significance of Notch1 and Fbxw7 Mutations in Pediatric T-All 

      Erbilgin, Yücel; Sayitoğlu, Müge; Hatırnaz, Özden; Doğru, Ömer; Akçay, Arzu; Tüysüz, Gülen; Celkan, Tiraje; Aydoğan, Gönül; Şalcıoğlu, Zafer; Timur, Çetin; Yüksek Soycan, Lebriz; Üre, Ümit; Anak, Sema; Ağaoğlu, Leyla; Devecioğlu, Ömer; Yıldız, İnci; Özbek, Uğur (Hindawi Ltd, 2010)
      The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ...

    • Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features 

      van Huet, Ramon A. C.; Siemiatkowska, Anna M.; Ozgul, Riza K.; Yucel, Didem; Hoyng, Carel B.; Banin, Eyal; Blumenfeld, Anat; Rotenstreich, Ygal; Riemslag, Frans C. C.; den Hollander, Anneke I.; Theelen, Thomas; Collin, Rob W. J.; van den Born, L. Ingeborgh; Klevering, B. Jeroen (Wiley, 2015)
      Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ...