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PubMed 15200509 De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized phenotypic 1.28 KB 2015-11-19 11 3
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PubMed 21548758 Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration. An association study of heterogeneous nucl 1.81 KB 2025-10-02 9 3
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PubMed 21709374 Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis. The oxidized LDL receptor 1 gene (OLR1) rs1050283 single nucleotide polymorphism (SNP) has been 1.83 KB 2025-10-02 9 3
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PubMed 15680455 Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's dise 781 Bytes 2015-11-18 4 3
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PubMed 15326084 Alpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hypertension. Previous studies have shown an association between the alpha-adducin Gly460Trp polymorphism and salt-sensitive hy 1.59 KB 2015-11-19 5 6
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PubMed 10575009 The influence of endoproteolytic processing of familial Alzheimer's disease presenilin 2 on abeta42 amyloid peptide formation. Mutant presenilins (PS) contribute to the pathogenesis of familial Alzhei 1.55 KB 2015-11-21 25 5
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PubMed 18753363 Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma. Anaplastic thyroid cancer (ATC) is a rare but highly aggressive disease with largely unexplained etiology and molec 1.4 KB 2015-11-24 4 3
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PubMed 19300893 A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disor 1.17 KB 2015-11-25 11 3
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PubMed 23028917 Identification of POMC exonic variants associated with substance dependence and body mass index. BACKGROUND: Risk of substance dependence (SD) and obesity has been linked to the function of melanocort 2.13 KB 2015-11-27 6 12
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PubMed 24925223 Loss of ARID1A expression in colorectal carcinoma is strongly associated with mismatch repair deficiency. ARID1A is a tumor suppressor gene involved in chromatin remodelling. ARID1A mutations and loss 1.67 KB 2015-11-27 6 5
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