Published in Am J Pathol on September 17, 2009
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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet (2005) 0.96
Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain. J Biol Chem (2002) 0.95
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Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol (2010) 0.92
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A (2009) 0.91
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COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem (2008) 0.88
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Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH. Matrix Biol (2004) 0.87
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Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. Am J Pathol (2011) 0.84
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Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia. J Bone Miner Res (2014) 0.83
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D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis. Am J Pathol (2011) 0.83
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