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Results: 1-17 |
Results: 17
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
Authors: van Deutekom, JCT Bremmer-Bout, M Janson, AAM Ginjaar, IB Baas, F den Dunnen, JT van Ommen, GJB
Citation: Jct. Van Deutekom et al., Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells, HUM MOL GEN, 10(15), 2001, pp. 1547-1554
WHSC1L1, on human chromosome 8p11.2, closely resembles WMSC1 and maps to aduplicated region shared with 4p16.3
Authors: Stec, I van Ommen, GJB den Dunnen, JT
Citation: I. Stec et al., WHSC1L1, on human chromosome 8p11.2, closely resembles WMSC1 and maps to aduplicated region shared with 4p16.3, GENOMICS, 76(1-3), 2001, pp. 5-8
Nomenclature for the description of human sequence variations
Authors: den Dunnen, JT Antonarakis, E
Citation: Jt. Den Dunnen et E. Antonarakis, Nomenclature for the description of human sequence variations, HUM GENET, 109(1), 2001, pp. 121-124
A partial BRCA1 sequence homology mapping to 4q28
Authors: Stec, I van Vliet, M van Eijk, R Meijers, H Kroeze, KHG Dauwerse, JG van Ommen, GJB Cornelisse, CJ den Dunnen, JT Devilee, P
Citation: I. Stec et al., A partial BRCA1 sequence homology mapping to 4q28, CYTOG C GEN, 94(1-2), 2001, pp. 26-29
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Authors: den Dunnen, JT Antonarakis, SE
Citation: Jt. Den Dunnen et Se. Antonarakis, Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion, HUM MUTAT, 15(1), 2000, pp. 7-12
An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1region implicated in neuroblastoma pathogenesis
Authors: Spieker, N Beitsma, M van Sluis, P Roobeek, I den Dunnen, JT Speleman, F Caron, H Versteeg, R
Citation: N. Spieker et al., An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1region implicated in neuroblastoma pathogenesis, GENE CHROM, 27(2), 2000, pp. 143-152
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
Authors: Ginjaar, IB Kneppers, ALJ von der Meulen, JDM Anderson, LVB Bremmer-Bout, M van Deutekom, JCT Weegenaar, J den Dunnen, JT Bakker, E
Citation: Ib. Ginjaar et al., Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family, EUR J HUM G, 8(10), 2000, pp. 793-796
The PWWP domain: a potential protein-protein interaction domain in nuclearproteins influencing differentiation?
Authors: Stec, I Nagl, SB van Ommen, GJB den Dunnen, JT
Citation: I. Stec et al., The PWWP domain: a potential protein-protein interaction domain in nuclearproteins influencing differentiation?, FEBS LETTER, 473(1), 2000, pp. 1-5
Point mutation detection in the dystrophin gene
Authors: den Dunnen, JT
Citation: Jt. Den Dunnen, Point mutation detection in the dystrophin gene, METH MOL M, 43, 2000, pp. 85-109
Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the distribution of huntingtin in Huntington's disease autopsybrain
Authors: Dorsman, JC Smoor, MA Maat-Schieman, MLC Bout, M Siesling, S van Duinen, SG Verschuuren, JJGM den Dunnen, JT Roos, RAC van Ommen, GJB
Citation: Jc. Dorsman et al., Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the distribution of huntingtin in Huntington's disease autopsybrain, PHI T ROY B, 354(1386), 1999, pp. 1061-1067
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations
Authors: Gans, PAMD Ginjaar, I Bakker, E Yates, JRW den Dunnen, JT
Citation: Pamd. Gans et al., A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations, NEUROMUSC D, 9(4), 1999, pp. 247-250
Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA
Authors: Theuns, J Cruts, M Del-Favero, J Goossens, D Dauwerse, H Wehnert, A den Dunnen, JT Van Broeckhoven, C
Citation: J. Theuns et al., Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA, MAMM GENOME, 10(4), 1999, pp. 410-414
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22
Authors: Montini, E Buchner, G Spalluto, C Andolfi, G Caruso, A den Dunnen, JT Trump, D Rocchi, M Ballabio, A Franco, B
Citation: E. Montini et al., Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22, GENOMICS, 58(1), 1999, pp. 65-72
The human genome project and the future of diagnostics, treatment, and prevention
Authors: van Ommen, GJB Bakker, E den Dunnen, JT
Citation: Gjb. Van Ommen et al., The human genome project and the future of diagnostics, treatment, and prevention, LANCET, 354, 1999, pp. SI5-SI10
New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector
Authors: Roest, PAM Bakker, E Fallaux, FJ Verellen-Dumoulin, C Murry, CE den Dunnen, JT
Citation: Pam. Roest et al., New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector, LANCET, 353(9154), 1999, pp. 727-728
Cosmid-based exon trapping
Authors: den Dunnen, JT
Citation: Jt. Den Dunnen, Cosmid-based exon trapping, METH ENZYM, 303, 1999, pp. 100-110
Distribution of inclusions in neuronal nuclei and dystrophic neurites in huntington disease brain
Authors: Maat-Schieman, MLC Dorsman, JC Smoor, MA Siesling, S Van Duinen, SG Verschuuren, JJGM den Dunnen, JT Van Ommen, GJB Roos, RAC
Citation: Mlc. Maat-schieman et al., Distribution of inclusions in neuronal nuclei and dystrophic neurites in huntington disease brain, J NE EXP NE, 58(2), 1999, pp. 129-137
Risultati: 1-17 |