Published in Mamm Genome on March 15, 2008
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Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet (2010) 1.65
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A novel TRPC6 mutation that causes childhood FSGS. PLoS One (2009) 1.47
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant (2007) 1.46
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med (2006) 1.39
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Finding a needle in a haystack: development of a combinatorial virtual screening approach for identifying high specificity heparin/heparan sulfate sequence(s). J Med Chem (2006) 1.28
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab (2003) 1.23
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A (2006) 1.19
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Hum Mol Genet (2010) 1.17
Integrating phylogeography and physiology reveals divergence of thermal traits between central and peripheral lineages of tropical rainforest lizards. Philos Trans R Soc Lond B Biol Sci (2012) 1.13
Identification of the molecular mechanisms by which the diterpenoid salvinorin A binds to kappa-opioid receptors. Biochemistry (2005) 1.13
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med (2002) 1.11
Structure-based design, synthesis, and biochemical and pharmacological characterization of novel salvinorin A analogues as active state probes of the kappa-opioid receptor. Biochemistry (2009) 1.10
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Differential helical orientations among related G protein-coupled receptors provide a novel mechanism for selectivity. Studies with salvinorin A and the kappa-opioid receptor. J Biol Chem (2006) 1.04
Comparative multi-locus phylogeography confirms multiple vicariance events in co-distributed rainforest frogs. Proc Biol Sci (2011) 1.04
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet (2012) 1.04
Identification of cis-regulatory variation influencing protein abundance levels in human plasma. Hum Mol Genet (2012) 1.02
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Galpha-subunits differentially alter the conformation and agonist affinity of kappa-opioid receptors. Biochemistry (2008) 1.01
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet (2009) 1.00
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Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
Evaluation of the effects of rapid maxillary expansion in growing children using computer tomography scanning: a pilot study. Eur J Orthod (2007) 0.98
How much is too much? Phenotypic consequences of Rai1 overexpression in mice. Eur J Hum Genet (2008) 0.97
Profiling the HER3/PI3K pathway in breast tumors using proximity-directed assays identifies correlations between protein complexes and phosphoproteins. PLoS One (2011) 0.96
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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant (2008) 0.95
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. BMC Med Genet (2010) 0.95
Intravenous multipotent adult progenitor cell therapy attenuates activated microglial/macrophage response and improves spatial learning after traumatic brain injury. Stem Cells Transl Med (2013) 0.95
Understanding Dermatan Sulfate-Heparin Cofactor II Interaction through Virtual Library Screening. ACS Med Chem Lett (2010) 0.93
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant (2010) 0.92
Age-dependent changes in the cerebrospinal fluid proteome by slow off-rate modified aptamer array. Am J Pathol (2011) 0.92
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr Nephrol (2008) 0.92
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Autophagy, cell death and sustained senescence arrest in B16/F10 melanoma cells and HCT-116 colon carcinoma cells in response to the novel microtubule poison, JG-03-14. Cancer Chemother Pharmacol (2012) 0.91
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A (2008) 0.91
Novel therapies for metastatic renal cell carcinoma: efforts to expand beyond the VEGF/mTOR signaling paradigm. Mol Cancer Ther (2012) 0.91
A magnetic resonance spectroscopy study of brain glutamate in a model of plasticity in human pharyngeal motor cortex. Gastroenterology (2008) 0.91
Identification of the site of binding of sulfated, low molecular weight lignins on thrombin. Biochem Biophys Res Commun (2011) 0.90
Anti-tumor effect of CT-322 as an adnectin inhibitor of vascular endothelial growth factor receptor-2. MAbs (2011) 0.90
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Influence of the phosphodiesterase-5 inhibitor, sildenafil, on sensitivity to chemotherapy in breast tumor cells. Breast Cancer Res Treat (2010) 0.88
Phthalate treatment does not influence levels of IgE or Th2 cytokines in B6C3F1 mice. Toxicology (2004) 0.88
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A (2005) 0.87
The sheep erythrocyte T-dependent antibody response (TDAR). Methods Mol Biol (2010) 0.87
Levosimendan for low cardiac output: a pediatric experience. J Intensive Care Med (2006) 0.87
Drinking water exposure to cadmium, an environmental contaminant, results in the exacerbation of autoimmune disease in the murine model. Toxicology (2003) 0.86
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Designing allosteric regulators of thrombin. Monosulfated benzofuran dimers selectively interact with Arg173 of exosite 2 to induce inhibition. J Med Chem (2012) 0.86
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mamm Genome (2009) 0.85
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Interlaboratory study of the primary antibody response to sheep red blood cells in outbred rodents following exposure to cyclophosphamide or dexamethasone. J Immunotoxicol (2007) 0.85
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CoMFA analyses of C-2 position salvinorin A analogs at the kappa-opioid receptor provides insights into epimer selectivity. J Mol Graph Model (2010) 0.84
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Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet A (2012) 0.84
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. Eur J Med Genet (2008) 0.84
Predicting pelvic lymph node involvement in current-era prostate cancer. Int J Radiat Oncol Biol Phys (2011) 0.83
Differential STAT5 activation and phenotypic marker expression by immune cells following low levels of ethanol consumption in mice. Immunopharmacol Immunotoxicol (2002) 0.82
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Brachydactyly A1: new relatives for old families? J Genet (2005) 0.81
Novel insights on the effect of nicotine in a murine colitis model. J Pharmacol Exp Ther (2012) 0.81
Prolactin receptor gene polymorphisms are associated with gestational diabetes. Genet Test Mol Biomarkers (2013) 0.81
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). Am J Med Genet A (2007) 0.81
Immunotoxicological profile of chloroform in female B6C3F1 mice when administered in drinking water. Drug Chem Toxicol (2009) 0.80
Discovery of imidazole glycerol phosphate dehydratase inhibitors through 3-D database searching. Bioorg Med Chem Lett (2002) 0.80
Synthesis, structure-affinity relationships, and modeling of AMDA analogs at 5-HT2A and H1 receptors: structural factors contributing to selectivity. Bioorg Med Chem (2009) 0.80
Thalidomide enhances both primary and secondary host resistances to Listeria monocytogenes infection by a neutrophil-related mechanism in female B6C3F1 mice. Toxicol Appl Pharmacol (2005) 0.80
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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genet Test (2008) 0.79
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Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay. J Autism Dev Disord (2015) 0.79