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Results: 1-25/44
Authors:
Trockenbacher, A
Suckow, V
Foerster, J
Winter, J
Krauss, S
Ropers, HH
Schneider, R
Schweiger, S
Citation: A. Trockenbacher et al., MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation, NAT GENET, 29(3), 2001, pp. 287-294
Authors:
Couvert, P
Bienvenu, T
Aquaviva, C
Poirier, K
Moraine, C
Gendrot, C
Verloes, A
Andres, C
Le Fevre, AC
Souville, I
Steffann, J
des Portes, V
Ropers, HH
Yntema, HG
Fryns, JP
Briault, S
Chelly, J
Cherif, B
Citation: P. Couvert et al., MECP2 is highly mutated in X-linked mental retardation, HUM MOL GEN, 10(9), 2001, pp. 941-946
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
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
Authors:
Sudbrak, R
Wieczorek, G
Nuber, UA
Mann, W
Kirchner, R
Erdogan, F
Brown, CJ
Wohrle, D
Sterk, P
Kalscheuer, VM
Berger, W
Lehrach, H
Ropers, HH
Citation: R. Sudbrak et al., X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications, HUM MOL GEN, 10(1), 2001, pp. 77-83
Authors:
Brunner, B
Hornung, U
Shan, Z
Nanda, I
Kondo, M
Zend-Ajusch, E
Haaf, T
Ropers, HH
Shima, A
Schmid, M
Kalscheuer, VM
Schartl, M
Citation: B. Brunner et al., Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1, GENOMICS, 77(1-2), 2001, pp. 8-17
Authors:
Kirschner, R
Erturk, D
Zeitz, C
Sahin, S
Ramser, J
Cremers, FPM
Ropers, HH
Berger, W
Citation: R. Kirschner et al., DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements, HUM GENET, 109(3), 2001, pp. 271-278
Authors:
Hemberger, M
Cross, JC
Ropers, HH
Lehracht, H
Fundele, R
Himmelbauer, H
Citation: M. Hemberger et al., UniGene cDNA array-based monitoring of transcriptome changes during placental development mouse, P NAS US, 98(23), 2001, pp. 13126-13131
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
Authors:
Mergenthaler, S
Hitchins, MP
Blagitko-Dorfs, N
Monk, D
Wollmann, HA
Ranke, MB
Ropers, HH
Apostolidou, S
Stanier, P
Preece, MA
Eggermann, T
Kalscheuer, VM
Moore, GE
Citation: S. Mergenthaler et al., Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression?, AM J HU GEN, 68(2), 2001, pp. 543-544
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
Authors:
Zemni, R
Bienvenu, T
Vinet, MC
Sefiani, A
Carrie, A
Billuart, P
McDonell, N
Couvert, P
Francis, F
Chafey, P
Fauchereau, F
Friocourt, G
des Portes, V
Cardona, A
Frints, S
Meindl, A
Brandau, O
Ronce, N
Moraine, C
van Bokhoven, H
Ropers, HH
Sudbrak, R
Kahn, A
Fryns, JP
Beldjord, R
Chelly, J
Citation: R. Zemni et al., A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation, NAT GENET, 24(2), 2000, pp. 167-170
Authors:
Brunner, B
Grutzner, F
Yaspo, ML
Ropers, HH
Haaf, T
Kalscheuer, VM
Citation: B. Brunner et al., Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis, CHROMOS RES, 8(6), 2000, pp. 465-476
Authors:
Roepman, R
Bernoud-Hubac, N
Schick, DE
Maugeri, A
Berger, W
Ropers, HH
Cremers, FPM
Ferreira, PA
Citation: R. Roepman et al., The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors, HUM MOL GEN, 9(14), 2000, pp. 2095-2105
Authors:
Blagitko, N
Mergenthaler, S
Schulz, U
Wollmann, HA
Craigen, W
Eggermann, T
Ropers, HH
Kalscheuer, VM
Citation: N. Blagitko et al., Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion, HUM MOL GEN, 9(11), 2000, pp. 1587-1595
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
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
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
Authors:
Fryns, JP
Borghgraef, M
Brown, TW
Chelly, J
Fisch, GS
Hamel, B
Hanauer, A
Lacombe, D
Luo, L
MacPherson, JN
Mandel, JL
Moraine, C
Mulley, J
Nelson, D
Oostra, B
Partington, M
Ramakers, GJA
Ropers, HH
Rousseau, F
Schwartz, C
Steinbach, P
Stoll, C
Tranebjaerg, L
Turner, G
Van Bokhoven, H
Vianna-Morgante, A
Villard, L
Warren, ST
Citation: Jp. Fryns et al., 9th international workshop on fragile X syndrome and X-linked mental retardation, AM J MED G, 94(5), 2000, pp. 345-360
Authors:
Bienvenu, T
des Portes, V
McDonell, N
Carrie, A
Zemni, R
Couvert, P
Ropers, HH
Moraine, C
van Bokhoven, H
Fryns, JP
Allen, K
Walsh, CA
Boue, J
Kahn, A
Chelly, J
Beldjord, C
Citation: T. Bienvenu et al., Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation, AM J MED G, 93(4), 2000, pp. 294-298
Authors:
Cremers, FPM
Cremers, CWRJ
Ropers, HH
Citation: Fpm. Cremers et al., The ins and outs of X-linked deafness type 3, ADV OTO-RH, 56, 2000, pp. 184-195
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
Authors:
Brunner, B
Todt, T
Lenzner, S
Stout, K
Schulz, U
Ropers, HH
Kalscheuer, VM
Citation: B. Brunner et al., Genomic structure and comparative analysis of nine Fugu genes: Conservation of synteny with human chromosome Xp22.2-p22.1, GENOME RES, 9(5), 1999, pp. 437-448
Authors:
Carrie, A
Jun, L
Bienvenu, T
Vinet, MC
McDonell, N
Couvert, P
Zemni, R
Cardona, A
Van Buggenhout, G
Frints, S
Hamel, B
Moraine, C
Ropers, HH
Strom, T
Howell, GR
Whittaker, A
Ross, MT
Kahn, A
Fryns, JP
Beldjord, C
Marynen, P
Chelly, J
Citation: A. Carrie et al., A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation, NAT GENET, 23(1), 1999, pp. 25-31
Authors:
Grutzner, F
Lutjens, G
Rovira, C
Barnes, DW
Ropers, HH
Haaf, T
Citation: F. Grutzner et al., Classical and molecular cytogenetics of the pufferfish tetraodon nigroviridis, CHROMOS RES, 7(8), 1999, pp. 655-662