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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
- Y. Crow, D. Chase, G. Rice
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 1 February 2015
A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Subclinical vitamin D deficiency is increased in adolescent girls who wear concealing clothing.
It is concluded that vitamin D deficiency is an important problem in Turkish adolescent girls, especially in those who follow a religious dress code; therefore, vitamin D supplementation appears to be necessary for adolescent girls.
Neuro-Behçet disease presenting as secondary pseudotumor syndrome: case report.
Using the Modified Checklist for Autism in Toddlers in a well-child clinic in Turkey: Adapting the screening method based on culture and setting
- B. Kara, N. M. Mukaddes, Isılay Altınkaya, Dilek Güntepe, G. Gökçay, Meral Özmen
- Medicine, PsychologyAutism : the international journal of research…
- 1 April 2014
It is concluded that the Modified Checklist for Autism in Toddlers is a useful tool in Turkey for screening of pervasive developmental disorders in primary care, but in the authors' culture, it is completed more accurately when health-care personnel ask the parents the questions.
The Prevalence of Anemia in Adolescents: A Study From Turkey
The prevalence of adolescent anemia in Kocaeli is almost equal to that in developed countries and iron medication was prescribed for iron deficiency and genetic counseling was given to adolescents with thalassemia trait.
Is There a Role for the Family and Close Community to Help Reduce the Risk of Postpartum Depression in New Mothers? A Cross-Sectional Study of Turkish Women
- B. Kara, P. Ünalan, Serap Çifçili, D. Cebeci, N. Sarper
- Psychology, MedicineMaternal and Child Health Journal
- 1 March 2008
Lower BDI scores in the postpartum period may be the result of the protective factors of motherhood which is a respected status for women in populations where the preservations of traditions and customs are valued.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*
Surprisingly, on the basis of three independent assays, the authors were able to infer that p.E375X truncated subunits are incorporated into functional hGlyRs together with unmutated α1 or α1 plus β subunits, which is the first suggestion that subunits lacking TM4 domains might be incorporated intofunctional pentameric ligand-gated ion channel receptors.
Psychiatric and Neurocognitive Evaluation Focused on Frontal Lobe Functions in Rolandic Epilepsy.
- M. Ayaz, I. Karakaya, A. Ayaz, B. Kara, Mahire Kutlu
- Psychology, MedicineNoro psikiyatri arsivi
- 1 September 2013
It was concluded that RE did not affect basic frontal lobe functions significantly, had negative effects on attention and IQ performance and increased behavioral problems and psychiatric disorders.