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Results: 1-10 |
Results: 10
Skewed X inactivation in X-linked disorders
Authors: Van den Veyver, IB
Citation: Ib. Van Den Veyver, Skewed X inactivation in X-linked disorders, SEMIN REP M, 19(2), 2001, pp. 183-191
The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3)is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies
Authors: Van den Veyver, IB Norman, B Tran, CQ Bourjac, J Slim, R
Citation: Ib. Van Den Veyver et al., The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3)is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies, J SOC GYN I, 8(5), 2001, pp. 305-313
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and patchy-fur (Paf) mutant mice
Authors: Cormier, TA Prakash, SK Magner, DB Zoghbi, HY Van den Veyver, IB
Citation: Ta. Cormier et al., Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and patchy-fur (Paf) mutant mice, MAMM GENOME, 12(10), 2001, pp. 796-798
Methyl-CpG-binding protein 2 mutations in Rett syndrome
Authors: Van den Veyver, IB Zoghbi, HY
Citation: Ib. Van Den Veyver et Hy. Zoghbi, Methyl-CpG-binding protein 2 mutations in Rett syndrome, CUR OP GEN, 10(3), 2000, pp. 275-279
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
Authors: Amir, RE Van den Veyver, IB Schultz, R Malicki, DM Tran, CQ Dahle, EJ Philippi, A Timar, L Percy, AK Motil, KJ Lichtarge, O Smith, EO Glaze, DG Zoghbi, HY
Citation: Re. Amir et al., Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes, ANN NEUROL, 47(5), 2000, pp. 670-679
Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome
Authors: Bacino, CA Stockton, DW Sierra, RA Heilstedt, HA Lewandowski, R Van den Veyver, IB
Citation: Ca. Bacino et al., Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome, AM J MED G, 94(2), 2000, pp. 102-112
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter
Authors: Zhang, WZ Amir, R Stockton, DW Van den Veyver, IB Bacino, CA Zoghbi, HY
Citation: Wz. Zhang et al., Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter, AM J HU GEN, 66(4), 2000, pp. 1461-1464
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Authors: Amir, RE Van den Veyver, IB Wan, M Tran, CQ Francke, U Zoghbi, HY
Citation: Re. Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2, NAT GENET, 23(2), 1999, pp. 185-188
Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3
Authors: Prakash, SK Van den Veyver, IB Franco, B Volta, M Ballabio, A Zoghbi, HY
Citation: Sk. Prakash et al., Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3, GENOMICS, 59(1), 1999, pp. 77-84
Discordance between fetal RhD typing using molecular methods and neonatal typing with serology
Authors: Van den Veyver, IB Yankowitz, J Subramanian, SB Dorman, KF Moise, KJ
Citation: Ib. Van Den Veyver et al., Discordance between fetal RhD typing using molecular methods and neonatal typing with serology, GYNECOL OBS, 48(4), 1999, pp. 229-231
Risultati: 1-10 |