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PubMed 17603925 Highlight Commentary on "Redox proteomics analysis of oxidatively modified proteins in G93A-SOD1 transgenic mice--a model of familial amyotrophic lateral sclerosis". Amyotrophic lateral sclerosis (ALS 1.14 KB 2015-11-23 4 3
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PubMed 21855833 Replication of genetic association studies in aortic stenosis in adults. Only a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal o 1.4 KB 2025-10-02 9 5
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PubMed 16569655 Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk. To date, the potential impact of hormones on prostate cancer has predomin 2.15 KB 2015-11-19 5 14
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PubMed 23266637 The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. Two syndromes are known to be associated with WNT7A mutations: Al-Awadi-Raas-Rothsc 960 Bytes 2015-11-27 11 3
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PubMed 22219087 A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. Canavan disease (OMIM 271900) is an autosomal recessive lethal neurodegenerative disorder characterized by spon 1.32 KB 2015-11-26 5 3
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PubMed 16452550 Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA). OBJECTIVE: The somatic point mutation in the BRAF gene, which results in a valine-to-glut 1.99 KB 2015-11-20 3 4
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PubMed 21716262 Differential activity by polymorphic variants of a remote enhancer that supports galanin expression in the hypothalamus and amygdala: implications for obesity, depression and alcoholism. The expressio 1.77 KB 2015-11-26 5 5
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PubMed 21418140 A CHRNA5 allele related to nicotine addiction and schizophrenia. Schizophrenia and nicotine addiction are both highly heritable phenotypes. Because individuals with schizophrenia have a higher rate of 1.73 KB 2015-11-26 6 3
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PubMed 17466011 Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. OBJECTIVE: 17beta-hydroxysteroid dehydrogenase type 3 isoenzyme (17beta-HSD3) is required to produce 2.28 KB 2015-12-24 6 5
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PubMed 19502417 Adipose tissue expression and genetic variants of the bone morphogenetic protein receptor 1A gene (BMPR1A) are associated with human obesity. OBJECTIVE: Members of the family of bone morphogenetic pro 1.78 KB 2015-11-25 4 8
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