AAAAAA

   
Results: 1-24 |
Results: 24
Identification of human candidate genes for male infertility by digital differential display
Authors: Olesen, C Hansen, C Bendsen, E Byskov, AG Schwinger, E Lopez-Pajares, I Jensen, PKA Kristoffersson, U Schubert, R Van Assche, E Wahlstroem, J Lespinasse, J Tommerup, N
Citation: C. Olesen et al., Identification of human candidate genes for male infertility by digital differential display, MOL HUM REP, 7(1), 2001, pp. 11-20
Detection of illegitimate rearrangement within the immunoglobulin locus on14q32.3 in B-cell malignancies using end-sequenced probes
Authors: Poulsen, TS Silahtaroglu, AN Gisselo, CG Gaarsdal, E Rasmussen, T Tommerup, N Johnsen, HE
Citation: Ts. Poulsen et al., Detection of illegitimate rearrangement within the immunoglobulin locus on14q32.3 in B-cell malignancies using end-sequenced probes, GENE CHROM, 32(3), 2001, pp. 265-274
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
Authors: Kitsos, G Eiberg, H Economou-Petersen, E Wirtz, MK Kramer, PL Aspiotis, M Tommerup, N Petersen, MB Psilas, K
Citation: G. Kitsos et al., Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree, EUR J HUM G, 9(6), 2001, pp. 452-457
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
Authors: Nielsen, JB Henriksen, KF Hansen, C Silahtaroglu, A Schwartz, M Tommerup, N
Citation: Jb. Nielsen et al., MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern, EUR J HUM G, 9(3), 2001, pp. 178-184
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain
Authors: Nothwang, HG Kim, HG Aoki, J Geisterfer, M Kubart, S Wegner, RD van Moers, A Ashworth, LK Haaf, T Bell, J Arai, H Tommerup, N Ropers, HH Wirth, J
Citation: Hg. Nothwang et al., Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain, HUM MOL GEN, 10(8), 2001, pp. 797-806
A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15
Authors: Wirth, J Back, E Huttenhofer, A Nothwang, HG Lich, C Gross, S Menzel, C Schinzel, A Kioschis, P Tommerup, N Ropers, HH Horsthemke, B Buiting, K
Citation: J. Wirth et al., A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15, HUM MOL GEN, 10(3), 2001, pp. 201-210
Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation
Authors: Rendtorff, ND Frodin, M Attie-Bitach, T Vekemans, M Tommerup, N
Citation: Nd. Rendtorff et al., Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation, GENOMICS, 71(1), 2001, pp. 40-52
Human FATE is a novel X-linked gene expressed in fetal and adult testis
Authors: Olesen, C Larsen, NJ Byskov, AG Harboe, TL Tommerup, N
Citation: C. Olesen et al., Human FATE is a novel X-linked gene expressed in fetal and adult testis, MOL C ENDOC, 184(1-2), 2001, pp. 25-32
The human hedgehog-interacting protein gene: Structure and chromosome mapping to 4q31.21 -> q31.3
Authors: Bak, M Hansen, C Henriksen, KF Tommerup, N
Citation: M. Bak et al., The human hedgehog-interacting protein gene: Structure and chromosome mapping to 4q31.21 -> q31.3, CYTOG C GEN, 92(3-4), 2001, pp. 300-303
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
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes
Authors: Kirchhoff, M Rose, H Maahr, J Gerdes, T Bugge, M Tommerup, N Tumer, Z Lespinasse, J Jensen, PKA Wirth, J Lundsteen, C
Citation: M. Kirchhoff et al., High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes, EUR J HUM G, 8(9), 2000, pp. 661-668
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations
Authors: Nothwang, HG Schroer, A van der Maarel, S Kubart, S Schneider, S Riesselmann, L Menzel, C Hinzmann, B Vogt, D Rosenthal, A Fryns, JP Tommerup, N Haaf, T Ropers, HH Wirth, J
Citation: Hg. Nothwang et al., Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations, CYTOG C GEN, 90(1-2), 2000, pp. 126-133
Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation
Authors: Harboe, TL Tumer, Z Hansen, C Jensen, NA Tommerup, N
Citation: Tl. Harboe et al., Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation, CYTOG C GEN, 89(3-4), 2000, pp. 156-157
Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome15q22.33 -> q23
Authors: Rendtorff, ND Vissing, H Tumer, Z Silahtaroglu, A Tommerup, N
Citation: Nd. Rendtorff et al., Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome15q22.33 -> q23, CYTOG C GEN, 89(3-4), 2000, pp. 279-280
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
Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity
Authors: Echwald, SM Sorensen, TIA Andersen, T Hansen, C Tommerup, N Pedersen, O
Citation: Sm. Echwald et al., Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity, OBES RES, 7(6), 1999, pp. 532-536
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome
Authors: Silahtaroglu, A Hol, FA Jensen, PKA Erdel, M Duba, HC Geurds, MPA Knoers, NVAM Mariman, ECM Tumer, Z Utermann, G Wirth, J Bugge, M Tommerup, N
Citation: A. Silahtaroglu et al., Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome, EUR J HUM G, 7(1), 1999, pp. 68-76
A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies
Authors: Bondurand, N Kuhlbrodt, K Pingault, V Enderich, J Sajus, M Tommerup, N Warburg, M Hennekam, RCM Read, AP Wegner, M Goossens, N
Citation: N. Bondurand et al., A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies, HUM MOL GEN, 8(9), 1999, pp. 1785-1789
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
Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1
Authors: Johnstone, RW Tommerup, N Hansen, C Vissing, H Shi, Y
Citation: Rw. Johnstone et al., Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1, IMMUNOGENET, 49(10), 1999, pp. 900-905
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
Authors: Xu, GL Bestor, TH Bourc'his, D Hsieh, CL Tommerup, N Bugge, M Hulten, M Qu, XY Russo, JJ Viegas-Pequignot, E
Citation: Gl. Xu et al., Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene, NATURE, 402(6758), 1999, pp. 187-191
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
Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1
Authors: Madsen, P Anant, S Rasmussen, HH Gromov, P Vorum, H Dumanski, JP Tommerup, N Collins, JE Wright, CL Dunham, I MacGinnitie, AJ Davidson, NO Celis, JE
Citation: P. Madsen et al., Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1, J INVES DER, 113(2), 1999, pp. 162-169
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores
Authors: Wandall, A Tranebjaerg, L Tommerup, N
Citation: A. Wandall et al., A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores, CHROMOSOMA, 107(6-7), 1998, pp. 359-365
Risultati: 1-24 |