Published in BMC Med Genet on September 27, 2011
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Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med (2010) 1.13
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A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab (2010) 1.07
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The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization. J Mol Cell Cardiol (2007) 1.00
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TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development. Immunogenetics (2013) 0.99
Oxidized LDL receptor 1 (OLR1) as a possible link between obesity, dyslipidemia and cancer. PLoS One (2011) 0.97
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab (2007) 0.97
No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease. Neurobiol Dis (2006) 0.96
Drugs affecting prelamin A processing: effects on heterochromatin organization. Exp Cell Res (2007) 0.95
Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. Curr Genomics (2008) 0.95
Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. PLoS One (2008) 0.95
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve (2005) 0.94
TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy. Acta Diabetol (2012) 0.94
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol (2010) 0.94
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Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients. Blood Cells Mol Dis (2004) 0.94
Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve (2008) 0.93
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta (2005) 0.93
Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line. Drug Metab Dispos (2007) 0.93
Functional analysis and molecular dynamics simulation of LOX-1 K167N polymorphism reveal alteration of receptor activity. PLoS One (2009) 0.92
Whole genome amplification and real-time PCR in forensic casework. BMC Genomics (2009) 0.92
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test (2007) 0.92
Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21. Hum Hered (2006) 0.91
TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease. J Crohns Colitis (2012) 0.91
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis. Arthritis Rheum (2013) 0.91
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique. BMC Med Genet (2002) 0.90
Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population. J Invest Dermatol (2004) 0.90
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol (2002) 0.90
Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. Arthritis Rheum (2011) 0.90
Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Gene (2007) 0.89
Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2003) 0.89
Cholesterol-lowering drugs inhibit lectin-like oxidized low-density lipoprotein-1 receptor function by membrane raft disruption. Mol Pharmacol (2012) 0.89
Biomarkers in COPD. Pulm Pharmacol Ther (2010) 0.89
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A (2005) 0.89
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet (2014) 0.89
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. Gene Expr (2007) 0.88
R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients. Dermatology (2008) 0.88
IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy. Mol Med (2012) 0.88
Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina. PLoS One (2011) 0.88
MicroRNA genetic variations: association with type 2 diabetes. Acta Diabetol (2013) 0.88
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat (2004) 0.87
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi. Cloning Stem Cells (2009) 0.87
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A (2012) 0.87
Association between CYP2B6 polymorphisms and Nevirapine-induced SJS/TEN: a pharmacogenetics study. Eur J Clin Pharmacol (2013) 0.87
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study. Am J Med Genet B Neuropsychiatr Genet (2004) 0.87
The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods. Curr Genomics (2012) 0.87
Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines. Invest New Drugs (2007) 0.87
Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants. Neurogenetics (2003) 0.86