Published in J Appl Genet on December 20, 2012
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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet (2004) 4.90
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
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A girl with duplication 9q34 syndrome. Am J Med Genet A (2007) 0.84
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Different factors are responsible for predicting relapses after primary tumors resection and for imatinib treatment outcomes in gastrointestinal stromal tumors. Med Sci Monit (2007) 0.83
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Regeneration of comparative genomic hybridization oligonucleotide microarrays with dimethylurea. Anal Biochem (2012) 0.80
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Loss of genetic material within 1p and 19q chromosomal arms in low grade gliomas of central nervous system. Folia Neuropathol (2013) 0.79
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual. BMC Med Genet (2012) 0.79
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. Pediatr Nephrol (2012) 0.79
A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father. J Neurooncol (2003) 0.79
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c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients. BMC Cancer (2009) 0.77
Transcriptomic Effects of Estrogen Starvation and Induction in the MCF7 Cells. The Meta-analysis of Microarray Results. Curr Pharm Biotechnol (2015) 0.76
Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia. Pol Arch Med Wewn (2014) 0.76
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The angiotensinogen AGT p.M235T gene polymorphism may be responsible for the development of severe anaphylactic reactions to insect venom allergens. Int Arch Allergy Immunol (2010) 0.76
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