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Results: 1-16 |
Results: 16
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Authors: Bolz, H von Brederlow, B Ramirez, A Bryda, EC Kutsche, K Nothwang, HG Seeliger, M Cabrera, MDS Vila, MC Molina, OP Gal, A Kubisch, C
Citation: H. Bolz et al., Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D, NAT GENET, 27(1), 2001, pp. 108-112
Human adolescent nephronophthisis: Gene locus synteny with polycystic kidney disease in pcy mice
Authors: Omran, H Haffner, K Burth, S Fernandez, C Fargier, B Villaquiran, A Nothwang, HG Schnittger, S Lehrach, H Woo, D Brandis, M Sudbrak, R Hildebrandt, F
Citation: H. Omran et al., Human adolescent nephronophthisis: Gene locus synteny with polycystic kidney disease in pcy mice, J AM S NEPH, 12(1), 2001, pp. 107-113
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
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
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
Authors: Kutsche, K Yntema, H Brandt, A Jantke, I Nothwang, HG Orth, U Boavida, MG David, D Chelly, J Fryns, JP Moraine, C Ropers, HH Hamel, BCJ van Bokhoven, H Gal, A
Citation: K. Kutsche et al., Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation, NAT GENET, 26(2), 2000, pp. 247-250
Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes
Authors: Vollmer, M Kremer, M Ruf, R Miot, S Nothwang, HG Wirth, J Otto, E Krapf, R Hildebrandt, F
Citation: M. Vollmer et al., Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes, GENOMICS, 68(2), 2000, pp. 127-135
DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner
Authors: Scheer, MP van der Maarel, S Kubart, S Schulz, A Wirth, J Schweiger, S Ropers, HH Nothwang, HG
Citation: Mp. Scheer et al., DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner, GENOMICS, 63(1), 2000, pp. 123-132
Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium
Authors: Kutsche, K Glauner, E Knauf, S Pomarino, A Schmidt, M Schroder, B Nothwang, HG Schuler, HM Goecke, TO Kersten, AJ Althaus, C Gal, A
Citation: K. Kutsche et al., Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium, CYTOG C GEN, 91(1-4), 2000, pp. 141-147
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
Cosegregation of T108A Elk-1 with mental retardation
Authors: Schroer, A Scheer, MP Zacharias, S Schneider, S Ropers, HH Nothwang, HG Chelly, J Hamel, B Fryns, JP Shaw, P Moraine, C
Citation: A. Schroer et al., Cosegregation of T108A Elk-1 with mental retardation, AM J MED G, 95(4), 2000, pp. 404-405
Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22
Authors: Thiesen, S Kubart, S Ropers, HH Nothwang, HG
Citation: S. Thiesen et al., Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22, BIOC BIOP R, 273(1), 2000, pp. 364-369
300 million years of conserved synteny between chicken Z and human chromosome 9
Authors: Nanda, I Shan, ZH Schartl, M Burt, DW Koehler, M Nothwang, HG Grutzner, F Paton, IR Windsor, D Dunn, I Engel, W Staeheli, P Mizuno, S Haaf, T Schmid, M
Citation: I. Nanda et al., 300 million years of conserved synteny between chicken Z and human chromosome 9, NAT GENET, 21(3), 1999, pp. 258-259
Mouse dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud
Authors: Caubit, X Thangarajah, R Theil, T Wirth, J Nothwang, HG Ruther, U Krauss, S
Citation: X. Caubit et al., Mouse dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud, DEV DYNAM, 214(1), 1999, pp. 66-80
Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue
Authors: Schroer, A Schneider, S Ropers, HH Nothwang, HG
Citation: A. Schroer et al., Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue, GENOMICS, 56(3), 1999, pp. 340-343
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
Risultati: 1-16 |