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ESEfinder: A web resource to identify exonic splicing enhancers.
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. Cartegni L, et al. Nucleic Acids Res. 2003 Jul 1;31(13):3568-71. doi: 10.1093/nar/gkg616. Nucleic Acids Res. 2003. PMID: 12824367 Free PMC article.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.
Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR. Cartegni L, et al. Am J Hum Genet. 2006 Jan;78(1):63-77. doi: 10.1086/498853. Epub 2005 Nov 16. Am J Hum Genet. 2006. PMID: 16385450 Free PMC article.
BRCA2 T2722R is a deleterious allele that causes exon skipping.
Fackenthal JD, Cartegni L, Krainer AR, Olopade OI. Fackenthal JD, et al. Am J Hum Genet. 2002 Sep;71(3):625-31. doi: 10.1086/342192. Epub 2002 Jul 19. Am J Hum Genet. 2002. PMID: 12145750 Free PMC article.
Exonic splicing enhancer motif recognized by human SC35 under splicing conditions.
Liu HX, Chew SL, Cartegni L, Zhang MQ, Krainer AR. Liu HX, et al. Mol Cell Biol. 2000 Feb;20(3):1063-71. doi: 10.1128/mcb.20.3.1063-1071.2000. Mol Cell Biol. 2000. PMID: 10629063 Free PMC article.
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