Yazar "Gunel, Murat" için listeleme
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ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
Caglayan, Ahmet Okay; Sezer, Rabia Gonul; Kaymakcalan, Hande; Ulgen, Ege; Yavuz, Taner; Baranoski, Jacob F.; Gunel, Murat (COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2017)Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease ... -
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegi
Kaymakcalan, Hande; Yarman, Yanki; Goc, Nukte; Toy, Fatih; Meral, Cihan; Ercan-Sencicek, A. Gulhan; Gunel, Murat (WILEY, 2018)We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings ... -
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 ...