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Results: 1-19 |
Results: 19
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
Authors: Taschner, PEM Jansen, JC Baysal, BE Bosch, A Rosenberg, EH Brocker-Vriends, AHJT van der Mey, AGL van Ommen, GJB Cornelisse, CJ Devilee, P
Citation: Pem. Taschner et al., Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene, GENE CHROM, 31(3), 2001, pp. 274-281
Medical genomics
Authors: van Ommen, GJB
Citation: Gjb. Van Ommen, Medical genomics, EUR J HUM G, 9(10), 2001, pp. 729-729
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
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
2000: promises and plans
Authors: van Ommen, GJB
Citation: Gjb. Van Ommen, 2000: promises and plans, EUR J HUM G, 8(1), 2000, pp. 1-1
Human genetics in health care
Authors: van Ommen, GJB
Citation: Gjb. Van Ommen, Human genetics in health care, EUR J PED, 159, 2000, pp. S170-S172
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Authors: Petrij, F Dauwerse, HG Blough, RI Giles, RH van der Smagt, JJ Wallerstein, R Maaswinkel-Mooy, PD van Karnebeek, CD van Ommen, GJB van Haeringen, A Rubinstein, JH Saal, HM Hennekam, RCM Peters, DJM Breuning, MH
Citation: F. Petrij et al., Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations, J MED GENET, 37(3), 2000, pp. 168-176
Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis
Authors: Peelen, T de Leeuw, W van Lent, K Morreau, H van Eijk, R van Vliet, M Wijnen, J Ligtenberg, M Ginjaar, HB Zweemer, R Menko, F Fodde, R van Ommen, GJB Vasen, HFA Cornelisse, CJ Devilee, P
Citation: T. Peelen et al., Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis, INT J CANC, 88(5), 2000, pp. 778-782
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
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families
Authors: Peelen, T van Vliet, M Bosch, A Bignell, G Vasen, HFA Klijn, JGM Meijers-Heijboer, H Stratton, M van Ommen, GJB Cornelisse, CJ Devilee, P
Citation: T. Peelen et al., Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families, BR J CANC, 82(1), 2000, pp. 151-156
De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
Authors: van der Maarel, SM Deidda, G Lemmers, RJLF van Overveld, PGM van der Wielen, M Hewitt, JE Sandkuijl, L Bakker, B van Ommen, GJB Padberg, GW Frants, RR
Citation: Sm. Van Der Maarel et al., De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10, AM J HU GEN, 66(1), 2000, pp. 26-35
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
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered
Authors: van der Reijden, BA Dauwerse, HG Giles, RH Jagmohan-Changur, S Wijmenga, C Liu, PP Smit, B Wessels, HW Beverstock, GC Jotterand-Bellomo, M Martinet, D Muhlematter, D Lafage-Pochitaloff, M Gabert, J Reiffers, J Bilhou-Nabera, C van Ommen, GJB Hagemeijer, A Breuning, MH
Citation: Ba. Van Der Reijden et al., Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered, ONCOGENE, 18(2), 1999, pp. 543-550
Genomic structure of the human PLZF gene
Authors: van Schothorst, EM Prins, DEM Baysal, BE Beekman, M Licht, JD Waxman, S Zelent, A Cornelisse, CJ van Ommen, GJB Richard, CW Devilee, P
Citation: Em. Van Schothorst et al., Genomic structure of the human PLZF gene, GENE, 236(1), 1999, pp. 21-24
Commentary on the current role of human genetics in health care
Authors: van Ommen, GJB
Citation: Gjb. Van Ommen, Commentary on the current role of human genetics in health care, CYTOG C GEN, 86(2), 1999, pp. 140-141
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
Integration of gene and genome maps by multicolour-FISH and DNA-halo hybridization
Authors: van Ommen, GJB
Citation: Gjb. Van Ommen, Integration of gene and genome maps by multicolour-FISH and DNA-halo hybridization, BIOM HLTH R, 23, 1998, pp. 365-373
Strategies for rare-event detection: An approach for automated fetal cell detection in maternal blood
Authors: Oosterwijk, JC Knepfle, CFHM Mesker, WE Vrolijk, H Sloos, WCR Pattenier, H Ravkin, I van Ommen, GJB Kanhai, HHH Tanke, HJ
Citation: Jc. Oosterwijk et al., Strategies for rare-event detection: An approach for automated fetal cell detection in maternal blood, AM J HU GEN, 63(6), 1998, pp. 1783-1792
Risultati: 1-19 |