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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

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

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

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

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosisWILL, K; DÖRK, T; STUHRMANN, M et al.The Journal of clinical investigation. 1994, Vol 93, Num 4, pp 1852-1859, issn 0021-9738Article

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1CARTEGNI, Luca; KRAINER, Adrian R.Nature genetics. 2002, Vol 30, Num 4, pp 377-384, issn 1061-4036Article

Intron-exon structure of the MET gene and cloning of an alternatively-spliced Met isoform reveals frequent exon-skipping of a single large internal exonLIN, J. C; NAUJOKAS, M; ZHU, H et al.Oncogene (Basingstoke). 1998, Vol 16, Num 7, pp 833-842, issn 0950-9232Article

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNAMCCARTHY, E. M. S; PHILLIPS, J. A.Human molecular genetics (Print). 1998, Vol 7, Num 9, pp 1491-1496, issn 0964-6906Article

Splicing Modulation Mediated by Small Nuclear RNAs as Therapeutic Approaches for Muscular DystrophiesBENCHAOUIR, Rachid; GOYENVALLE, Aurélie.Current gene therapy. 2012, Vol 12, Num 3, pp 179-191, issn 1566-5232, 13 p.Article

Polymersome delivery of siRNA and antisense oligonucleotidesKIM, Younghoon; TEWARI, Manorama; PAJEROWSKI, J. David et al.Journal of controlled release. 2009, Vol 134, Num 2, pp 132-140, issn 0168-3659, 9 p.Article

Recruitment of alkaloid-specific homospermidine synthase (HSS) from ubiquitous deoxyhypusine synthase : Does Crotalaria possess a functional HSS that still has DHS activity?NURHAYATI, Niknik; OBER, Dietrich.Phytochemistry. 2005, Vol 66, Num 11, pp 1346-1357, issn 0031-9422, 12 p.Article

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusKALER, S. G; GALLO, L. K; PROUD, V. K et al.Nature genetics. 1994, Vol 8, Num 2, pp 195-202, issn 1061-4036Article

Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiencyVAN WIJK, Richard; VAN WESEL, Annet C. W; THOMAS, Adri A. M et al.British journal of haematology. 2004, Vol 125, Num 2, pp 253-263, issn 0007-1048, 11 p.Article

Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type IMICHALICKOVA, K; SUSIC, M; WILLING, M. C et al.Human molecular genetics (Print). 1998, Vol 7, Num 2, pp 249-255, issn 0964-6906Article

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