Search Results - "Kremensky, Ivo M"
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Evoked Potentials in Patients With Wilson Disease
Published in Journal of clinical neurophysiology (01-09-2022)“…INTRODUCTION:Wilson disease (WD) is an inherited disorder of copper metabolism presenting with a variety of symptoms but commonly as a liver or…”
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2
Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer
Published in Cancer detection and prevention (01-01-2007)“…Abstract Background: BRAF somatic mutations were reported with high frequency in sporadic colorectal cancers (CRCs) with microsatellite instability (MSI). The…”
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3
No evidence of association between 118A>G OPRM1 polymorphism and heroin dependence in a large Bulgarian case–control sample
Published in Drug and alcohol dependence (01-08-2011)“…Abstract The μ-opioid receptor is the primary site of action of most opioids. The 118A>G (rs1799971) polymorphism in exon 1 of the μ-opioid receptor gene (…”
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4
Transmission disequilibrium of DISC1 haplotypes in Bulgarian families with affective disorder
Published in Psychiatry research (30-12-2013)Get full text
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5
Evidence of an association between bipolar disorder and rs16917237 in the BDNF gene in a Bulgarian sample
Published in Psychiatric genetics (01-06-2013)“…Brain-derived neurotrophic factor (BDNF) plays a crucial role in the differentiation and survival of neurons. Despite the numerous association studies of…”
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CHEK2 I157T and endometrial cancer
Published in DNA and cell biology (01-01-2009)“…Endometrial cancer (EC) is the most common malignancy of the female reproductive system in the industrialized world. Similar to other common diseases, gene…”
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Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts
Published in Behavior genetics (01-03-2016)“…The mu1 opioid receptor gene, OPRM1 , has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional…”
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Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22
Published in Psychiatric genetics (01-06-2004)“…Several studies provide suggestive evidence of a susceptibility locus for bipolar disorder at chromosome 21q22-23. In an attempt to replicate these findings,…”
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Molecular screening for hereditary nonpolyposis colorectal cancer in Bulgaria
Published in Central European journal of medicine (01-06-2006)“…Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease, caused by germline mutations in DNA mismatch-repair genes (MMR). These…”
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10
A simple method for detection of factor V R506Q (Leiden) mutation in dried blood spots
Published in Clinica chimica acta (15-06-1999)Get full text
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No evidence of association between 118AG OPRM1 polymorphism and heroin dependence in a large Bulgarian case-control sample
Published in Drug and alcohol dependence (01-08-2011)“…The mu -opioid receptor is the primary site of action of most opioids. The 118AG (rs1799971) polymorphism in exon 1 of the mu -opioid receptor gene (OPRM1)…”
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Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report
Published in Human pathology (01-01-2016)“…Summary Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant congenital disorder (prevalence, 1:125 000-720 000) characterized by broad thumbs and…”
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