User profiles for ONUR EMRE ONAT
Onur Emre OnatAssist. Prof., Bezmialem Vakif University Verified email at bezmialem.edu.tr Cited by 1171 |
[HTML][HTML] Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
O Emre Onat, S Gulsuner, K Bilguvar… - European Journal of …, 2013 - nature.com
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous
condition. We investigated a consanguineous family from Turkey with four affected …
condition. We investigated a consanguineous family from Turkey with four affected …
[HTML][HTML] Mutation of the human circadian clock gene CRY1 in familial delayed sleep phase disorder
A Patke, PJ Murphy, OE Onat, AC Krieger, T Özçelik… - Cell, 2017 - cell.com
Patterns of daily human activity are controlled by an intrinsic circadian clock that promotes ∼24
hr rhythms in many behavioral and physiological processes. This system is altered in …
hr rhythms in many behavioral and physiological processes. This system is altered in …
Genomic landscape of the Greater Middle east
T Özçelik, OE Onat - Nature Genetics, 2016 - nature.com
Study of the Greater Middle East (GME), home to approximately 10% of the world's
population, has made invaluable contributions to the characterization of rare genetic disease, …
population, has made invaluable contributions to the characterization of rare genetic disease, …
MDM2 T309G polymorphism is associated with bladder cancer
Recently, a functional T to G polymorphism at nucleotide 309 in the promoter region of the
MDM2 gene (rs: 2279744, SNP 309) has been identified. This polymorphism has an impact …
MDM2 gene (rs: 2279744, SNP 309) has been identified. This polymorphism has an impact …
Mitochondrial serine protease HTRA2 p. G399S in a kindred with essential tremor and Parkinson disease
…, S Gulsuner, FN Mercan, OE Onat… - Proceedings of the …, 2014 - National Acad Sciences
Essential tremor is one of the most frequent movement disorders of humans and can be
associated with substantial disability. Some but not all persons with essential tremor develop …
associated with substantial disability. Some but not all persons with essential tremor develop …
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans
…, S Caglayan, S Gulsuner, OE Onat… - Proceedings of the …, 2008 - National Acad Sciences
Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated
with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar …
with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar …
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair
Background Human de novo single-nucleotide variation (SNV) rate is estimated to range
between 0.82–1.70×10 −8 mutations per base per generation. However, contribution of early …
between 0.82–1.70×10 −8 mutations per base per generation. However, contribution of early …
[HTML][HTML] Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis
Background Leptomeningeal carcinomatosis (LMC) is a rare type of cancer that settles at
the meninges through metastasis of non-small cell lung cancer (NSCLC), breast cancer and …
the meninges through metastasis of non-small cell lung cancer (NSCLC), breast cancer and …
[HTML][HTML] Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation
P Demirayak, OE Onat, AÖ Gevrekci… - Diagnostic and …, 2018 - ncbi.nlm.nih.gov
PURPOSE Congenital mirror movement disorder (CMMD) is characterized by unintended,
nonsuppressible, homologous mirroring activity contralateral to the movement on the …
nonsuppressible, homologous mirroring activity contralateral to the movement on the …
Multiscale analysis of SRY‐positive 46, XX testicular disorder of sex development: Presentation of nine cases
46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition
characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims …
characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims …