Yazar "Tuysuz, Beyhan" için listeleme
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Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly
Sgourdou, Paraskevi; Mishra-Gorur, Ketu; Saotome, Ichiko; Henagariu, Octavian; Tuysuz, Beyhan; Campos, Cynthia; Louvi, Angeliki (NATURE PUBLISHING GROUP, 2017)Recessive mutations in WD repeat domain 62 (WDR62) cause microcephaly and a wide spectrum of severe brain malformations. Disruption of the mouse ortholog results in microcephaly underlain by reduced proliferation of ... -
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
Gunes, Nilay; Yesil, Gozde; Beng, Kubilay; Kahraman, Sinan; Tuysuz, Beyhan (KARGER, 2018)Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular ... -
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Caglayan, Ahmet O.; Tuysuz, Beyhan; Coskun, Suleyman; Quon, Jennifer; Harmanci, Akdes S.; Baranoski, Jacob F.; Gunel, Murat (NATURE PUBLISHING GROUP, 2016)The fat mass and obesity associated (FTO) gene has previously been associated with a variety of diseases and conditions, notably obesity, acute coronary syndrome and metabolic syndrome. Reports describing mutations in FTO ...