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Results: 1-20 |
Results: 20
Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries
Authors: Olsen, JH Hahnemann, JM Borresen-Dale, AL Brondum-Nielsen, K Hammarstrom, L Kleinerman, R Kaatriainen, H Lonnqvist, T Sankila, R Seersholm, N Tretli, S Yuen, J Boice, JD Tucker, M
Citation: Jh. Olsen et al., Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries, J NAT CANC, 93(2), 2001, pp. 121-127
Rieger syndrome is associated with PAX6 deletion
Authors: Riise, R Storhaug, K Brondum-Nielsen, K
Citation: R. Riise et al., Rieger syndrome is associated with PAX6 deletion, ACT OPHTH S, 79(2), 2001, pp. 201-203
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
Authors: Palferman, S Matthews, N Turner, H Moore, J Hervas, A Aubin, A Wallace, S Michelotti, J Wainhouse, C Paul, A Thompson, E Murin, M Gupta, R Garner, C Pickles, A Rutter, M Bailey, A Lamb, JA Marlow, A Scudder, P Barnby, G Monaco, AP Baird, G Cox, A Docherty, Z Warburton, P Green, EP Abbs, SJ Le Couteur, A McConachie, HR Berney, T Kelly, TP De Vries, PJ Bolton, P Green, J Gilchrist, A Whittacker, J Bolton, B Packer, R Maestrini, E Van Engeland, H De Jonge, MV Kemner, C Klauck, SM Beyer, KS Epp, S Poustka, A Benner, A Poustka, F Ruhl, D Schmotzer, G Bolte, S Feineis-Matthews, S Fombonne, E Roge, B Fremolle-Kruck, J Pienkowski, C Tauber, MT Pedersen, L Brondum-Nielsen, K Eriksen, G Haracopos, D Cotterill, RMJ Tsiantis, J Papanikolaou, K Lord, C Corsello, C Guter, S Leventhal, B Cook, E Smalley, S Bailey, J Liu, A Dedricks, M Chrzanowski, L Levitt, J Pauls, D Volkmar, F Weeks, DE
Citation: S. Palferman et al., Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q, HUM MOL GEN, 10(9), 2001, pp. 973-982
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
Authors: Vallon-Christersson, J Cayanan, C Haraldsson, K Loman, N Bergthorsson, JT Brondum-Nielsen, K Gerdes, AM Moller, P Kristoffersson, U Olsson, H Borg, A Monteiro, ANA
Citation: J. Vallon-christersson et al., Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families, HUM MOL GEN, 10(4), 2001, pp. 353-360
Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring
Authors: Schulze, A Mogensen, H Hamborg-Petersen, B Graem, N Ostergaard, JR Brondum-Nielsen, K
Citation: A. Schulze et al., Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring, ACT PAEDIAT, 90(4), 2001, pp. 455-459
Population-based risk estimates of Wilms tumor in sporadic aniridia - A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
Authors: Gronskov, K Olsen, JH Sand, A Pedersen, W Carlsen, N Jylling, AMB Lyngbye, T Brondum-Nielsen, K Rosenberg, T
Citation: K. Gronskov et al., Population-based risk estimates of Wilms tumor in sporadic aniridia - A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia, HUM GENET, 109(1), 2001, pp. 11-18
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome
Authors: Borck, G Wirth, J Hardt, T Tonnies, H Brondum-Nielsen, K Bugge, M Tommerup, N Nothwang, HG Ropers, HH Haaf, T
Citation: G. Borck et al., Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome, J MED GENET, 38(2), 2001, pp. 117-120
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia
Authors: Laake, K Jansen, L Hahnemann, JM Brondum-Nielsen, K Lonnqvist, T Kaariainen, H Sankila, R Lahdesmaki, A Hammarstrom, L Yuen, J Tretli, S Heiberg, A Olsen, JH Tucker, M Kleinerman, R Borresen-Dale, AL
Citation: K. Laake et al., Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia, HUM MUTAT, 16(3), 2000, pp. 232-246
Mutation analysis of the GJB2 (Connexin 26) gene by DGGE in Greek patientswith sensorineural deafness
Authors: Antoniadi, T Gronskov, K Sand, A Pampanos, A Brondum-Nielsen, K Petersen, MB
Citation: T. Antoniadi et al., Mutation analysis of the GJB2 (Connexin 26) gene by DGGE in Greek patientswith sensorineural deafness, HUM MUTAT, 16(1), 2000, pp. 7-12
High carrier frequency of the 35delG deafness mutation in European populations
Authors: Gasparini, P Rabionet, R Barbujani, G Melchionda, S Petersen, M Brondum-Nielsen, K Metspalu, A Oitmaa, E Pisano, M Fortina, P Zelante, L Estivill, X
Citation: P. Gasparini et al., High carrier frequency of the 35delG deafness mutation in European populations, EUR J HUM G, 8(1), 2000, pp. 19-23
Aspects of skeletal development in fragile X syndrome fetuses
Authors: Hjalgrim, H Hansen, BF Brondum-Nielsen, K Nolting, D Kjaer, I
Citation: H. Hjalgrim et al., Aspects of skeletal development in fragile X syndrome fetuses, AM J MED G, 95(2), 2000, pp. 123-129
Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles
Authors: Larsen, LA Armstrong, JSM Gronskov, K Hjalgrim, H Macpherson, JN Brondum-Nielsen, K Hasholt, L Norgaard-Pedersen, B Vuust, J
Citation: La. Larsen et al., Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles, AM J MED G, 93(2), 2000, pp. 99-106
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man
Authors: Bugge, M Bruun-Petersen, G Brondum-Nielsen, K Friedrich, U Hansen, J Jensen, G Jensen, PKA Kristofferson, U Lundsteen, C Niebuhr, E Rasmussen, KR Rasmussen, K Tommerup, N
Citation: M. Bugge et al., Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man, J MED GENET, 37(11), 2000, pp. 858-865
Microdissection - a precise method to disclose the parental origin of supernumerary marker chromosomes
Authors: Friedrich, U Bugge, M Houman, M Henriksen, KF Brondum-Nielsen, K
Citation: U. Friedrich et al., Microdissection - a precise method to disclose the parental origin of supernumerary marker chromosomes, ANN GENET, 43(2), 2000, pp. 109-110
Analysis of FMR1 (CGG)(n) alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia
Authors: Larsen, LA Armstrong, JSM Gronskov, K Hjalgrim, H Brondum-Nielsen, K Hasholt, L Norgaard-Pedersen, B Vuust, J
Citation: La. Larsen et al., Analysis of FMR1 (CGG)(n) alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia, EUR J HUM G, 7(7), 1999, pp. 771-777
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
Authors: Gronskov, K Rosenberg, T Sand, A Brondum-Nielsen, K
Citation: K. Gronskov et al., Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype, EUR J HUM G, 7(3), 1999, pp. 274-286
Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability
Authors: Jacobsen, J Nielsen, EB Brondum-Nielsen, K Christensen, ME Olin, HBD Tommerup, N Rassing, MR
Citation: J. Jacobsen et al., Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability, EUR J OR SC, 107(2), 1999, pp. 138-146
Frontal-subcortical hypofunction in the fragile X syndrome
Authors: Hjalgrim, H Jacobsen, TB Norgaard, K Lou, HC Brondum-Nielsen, K Jonassen, O
Citation: H. Hjalgrim et al., Frontal-subcortical hypofunction in the fragile X syndrome, AM J MED G, 83(2), 1999, pp. 140-141
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
Authors: Wirth, J Nothwang, HG van der Maarel, S Menzel, C Borck, G Lopez-Pajares, I Brondum-Nielsen, K Tommerup, N Bugge, M Ropers, HH Haaf, T
Citation: J. Wirth et al., Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes, J MED GENET, 36(4), 1999, pp. 271-278
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
Authors: Devriendt, K Matthijs, G Van Dael, R Gewillig, M Eyskens, B Hjalgrim, H Dolmer, B McGaughran, J Brondum-Nielsen, K Marynen, P Fryns, JP Vermeesch, JR
Citation: K. Devriendt et al., Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1, AM J HU GEN, 64(4), 1999, pp. 1119-1126
Risultati: 1-20 |