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Structural diversity and functional implications of the eukaryotic TDP gene familyWANG, Hurng-Yi; WANG, I-Fan; BOSE, Jayaramakrishnan et al.Genomics (San Diego, Calif.). 2004, Vol 83, Num 1, pp 130-139, issn 0888-7543, 10 p.Article

Therapeutic exon skipping for dysferlinopathies?AARTSMA-RUS, Annemieke; SINGH, Kavita Hk; FOKKEMA, Ivo Fac et al.European journal of human genetics. 2010, Vol 18, Num 8, pp 889-894, issn 1018-4813, 6 p.Article

Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cellsAARTSMA-RUS, A; KAMAN, W. E; BREMMER-BOUT, M et al.Gene therapy (Basingstoke). 2004, Vol 11, Num 18, pp 1391-1398, issn 0969-7128, 8 p.Article

Short communication: Molecular genetic characterization of ovine αS1-casein allele H caused by alternative splicingGIAMBRA, I. J; CHIANESE, L; FERRANTI, P et al.Journal of dairy science. 2010, Vol 93, Num 2, pp 792-795, issn 0022-0302, 4 p.Article

Novel aberrant splicings caused by a splice site mutation (IVSIa+5g>a) in F7 geneQIULAN DING; WENMAN WU; QIHUA FU et al.Thrombosis and haemostasis. 2005, Vol 93, Num 6, pp 1077-1081, issn 0340-6245, 5 p.Article

Proteomic profiling of antisense-induced exon skipping reveals reversal of pathobiochemical abnormalities in dystrophic mdx diaphragmDORAN, Philip; WILTON, Steve D; FLETCHER, Sue et al.Proteomics (Weinheim. Print). 2009, Vol 9, Num 3, pp 671-685, issn 1615-9853, 15 p.Article

An explanation for the constitutive exon 9 cassette splicing of the DMD geneREISS, J; RININSLAND, F.Human molecular genetics (Print). 1994, Vol 3, Num 2, pp 295-298, issn 0964-6906Article

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) geneHUTTER, P; ANTONARAKIS, S. E; DELOZIER-BLANCHET, C. D et al.Human molecular genetics (Print). 1994, Vol 3, Num 4, pp 663-665, issn 0964-6906Article

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndromeCHAN, Sherine S. L; LONGLEY, Matthew J; NAVIAUX, Robert K et al.DNA repair. 2005, Vol 4, Num 12, pp 1381-1389, issn 1568-7864, 9 p.Article

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 geneMESSIAEN, L; CALLENS, T; DE PAEPE, A et al.Human genetics. 1997, Vol 101, Num 1, pp 75-80, issn 0340-6717Article

Relnrl-alb2, an allele of Reeler isolated from a chlorambucil screen, is due to an IAP insertion with exon skippingROYAUX, I; BERNIER, B; MONTGOMERY, J. C et al.Genomics (San Diego, Calif.). 1997, Vol 42, Num 3, pp 479-482, issn 0888-7543Article

A G+3-to-T donor splice site mutation leads to skipping of exon 50 in Von Willebrand factor mRNAMERTES, G; LUDWIG, M; FINKELBURG, B et al.Genomics (San Diego, Calif.). 1994, Vol 24, Num 1, pp 190-191, issn 0888-7543Article

Molecular therapy for duchenne muscular dystrophyTAKESHIMA, Yasuhiro; MATSUO, Masafumi.Recent research developments in biophysics and biochemistry vol. 3 - 2003 Part II. Recent research developments in biophysics and biochemistry. 2003, pp 843-849, isbn 81-271-0014-5, 7 p.Book Chapter

The association of nonsense codons with exon skippingVALENTINE, C. R.Mutation research. Reviews in mutation research. 1998, Vol 411, Num 2, pp 87-117, issn 1383-5742Article

Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individualsFONKNECHTEN, N; BIENVENU, T; MORISCOT, C et al.Human molecular genetics (Print). 1993, Vol 2, Num 12, pp 2141-2142, issn 0964-6906Article

Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholinoWU, B; LU, P; BENRASHID, E et al.Gene therapy (Basingstoke). 2010, Vol 17, Num 1, pp 132-140, issn 0969-7128, 9 p.Article

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasiaNAKASHIMA, Eiji; KITOH, Hiroshi; MAEDA, Koichi et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 181-184, issn 0148-7299, 4 p.Article

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing patternDALL'OSSO, Claudia; GUELLA, Llaria; ASSELTA, Rosanna et al.Haematologica (Roma). 2008, Vol 93, Num 10, pp 1505-1513, issn 0390-6078, 9 p.Article

AAV vectors for RNA-based modulation of gene expressionDANOS, O.Gene therapy (Basingstoke). 2008, Vol 15, Num 11, pp 864-869, issn 0969-7128, 6 p.Article

Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMDMCCLOREY, G; MOULTON, H. M; IVERSEN, P. L et al.Gene therapy (Basingstoke). 2006, Vol 13, Num 19, pp 1373-1381, issn 0969-7128, 9 p.Article

Sequence of the rat factor VIII cDNAWATZKA, Matthias; GEISEN, Christof; SEIFRIED, Erhard et al.Thrombosis and haemostasis. 2004, Vol 91, Num 1, pp 38-42, issn 0340-6245, 5 p.Article

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skippingDIVINA, Petr; KVITKOVICOVA, Andrea; BURATTI, Emanuele et al.European journal of human genetics. 2009, Vol 17, Num 6, pp 759-765, issn 1018-4813, 7 p.Article

A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndromeOKAMOTO, Osamu; ANDO, Tadasuke; WATANABE, Atsushi et al.Archives of dermatological research (Print). 2008, Vol 300, Num 9, pp 525-529, issn 0340-3696, 5 p.Article

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosisVERRIPS, A; STEENBERGEN-SPANJERS, G. C. H; LUYTEN, J. A. F. M et al.Human genetics. 1997, Vol 100, Num 2, pp 284-286, issn 0340-6717Article

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patientsRICHARD, E; DESVIAT, L. R; PEREZ, B et al.Human genetics. 1997, Vol 101, Num 1, pp 93-96, issn 0340-6717Article

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