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Results: 1-13 |
Results: 13
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus (vol 11, pg 208, 2001)
Authors: Edelmann, L Stankiewicz, P Spiteri, E Pandita, RK Shaffer, L Lupski, J Morrow, BE
Citation: L. Edelmann et al., Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus (vol 11, pg 208, 2001), GENOME RES, 11(3), 2001, pp. 503-503
Two function copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus
Authors: Edelmann, L Stankiewicz, P Spiteri, E Pandita, RK Shaffer, L Lupski, J Morrow, BE
Citation: L. Edelmann et al., Two function copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus, GENOME RES, 11(2), 2001, pp. 208-217
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects
Authors: Funke, B Epstein, JA Kochilas, LK Lu, MM Pandita, RK Liao, J Bauerndistel, R Schuler, T Schorle, H Brown, MC Adams, J Morrow, BE
Citation: B. Funke et al., Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects, HUM MOL GEN, 10(22), 2001, pp. 2549-2556
Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11
Authors: Funke, B Pandita, RK Morrow, BE
Citation: B. Funke et al., Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11, GENOMICS, 73(3), 2001, pp. 264-271
TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome
Authors: Merscher, S Funke, B Epstein, JA Heyer, J Puech, A Lu, MM Xavier, RJ Demay, MB Russell, RG Factor, S Tokooya, K Jore, BS Lopez, M Pandita, RK Lia, M Carrion, D Xu, H Schorle, H Kobler, JB Scambler, P Wynshaw-Boris, A Skoultchi, AI Morrow, BE Kucherlapati, R
Citation: S. Merscher et al., TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome, CELL, 104(4), 2001, pp. 619-629
Potential mapping of corneal dermoids to Xq24-qter
Authors: Dar, P Javed, AA Ben-Yishay, M Ferreira, JC Paterson, AD Gross, SJ Chitayat, D Morrow, BE Nitowsky, HM
Citation: P. Dar et al., Potential mapping of corneal dermoids to Xq24-qter, J MED GENET, 38(10), 2001, pp. 719-723
AT-rich palindromes mediate the constitutional t(11;22) translocation
Authors: Edelmann, L Spiteri, E Koren, K Pulijaal, V Bialer, MG Shanske, A Goldberg, R Morrow, BE
Citation: L. Edelmann et al., AT-rich palindromes mediate the constitutional t(11;22) translocation, AM J HU GEN, 68(1), 2001, pp. 1-13
Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
Authors: Maldonado-Saldivia, J Funke, B Pandita, RK Schuler, T Morrow, BE Schorle, H
Citation: J. Maldonado-saldivia et al., Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome, MECH DEVEL, 96(1), 2000, pp. 121-124
A common molecular basis for rearrangement disorders on chromosome 22q11
Authors: Edelmann, L Pandita, RK Spiteri, E Funke, B Goldberg, R Palanisamy, N Chaganti, RSK Magenis, E Shprintzen, RJ Morrow, BE
Citation: L. Edelmann et al., A common molecular basis for rearrangement disorders on chromosome 22q11, HUM MOL GEN, 8(7), 1999, pp. 1157-1167
The DNA sequence of human chromosome 22
Authors: Dunham, I Shimizu, N Roe, BA Chissoe, S Dunham, I Hunt, AR Collins, JE Bruskiewich, R Beare, DM Clamp, M Smink, LJ Ainscough, R Almeida, JP Babbage, A Bagguley, C Balley, J Barlow, K Bates, KN Beasley, O Bird, CP Blakey, S Bridgeman, AM Buck, D Burgess, J Burrill, WD Burton, J Carder, C Carter, NP Chen, Y Clark, G Clegg, SM Cobley, V Cole, CG Collier, RE Connor, RE Conroy, D Corby, N Coville, GJ Cox, AV Davis, J Dawson, E Dhami, PD Dockree, C Dodsworth, SJ Durbin, RM Ellington, A Evans, KL Fey, JM Fleming, K French, L Garner, AA Gilbert, JGR Goward, ME Grafham, D Griffiths, MN Hall, C Hall, R Hall-Tamlyn, G Heathcott, RW Ho, S Holmes, S Hunt, SE Jones, MC Kershaw, J Kimberley, A King, A Laird, GK Langford, CF Leversha, MA Lloyd, C Lloyd, DM Martyn, ID Mashreghi-Mohammadi, M Matthews, L McCann, OT McClay, J McLaren, S McMurray, AA Milne, SA Mortimore, BJ Odell, CN Pavitt, R Pearce, AV Pearson, D Phillimore, BJ Phillips, SH Plumb, RW Ramsay, H Ramsey, Y Rogers, L Ross, MT Scott, CE Sehra, HK Skuce, CD Smalley, S Smith, ML Soderlund, C Spragon, L Steward, CA Sulston, JE Swann, RM Vaudin, M Wall, M Wallis, JM Whiteley, MN Willey, D Williams, L Williams, S Williamson, H Wilmer, TE Wilming, L Wright, CL Hubbard, T Bentley, DR Beck, S Rogers, J Shimizu, N Minoshima, S Kawasaki, K Sasaki, T Asakawa, S Kudoh, J Shintani, A Shibuya, K Yoshizaki, Y Aoki, N Mitsuyama, S Roe, BA Chen, F Chu, L Crabtree, J Deschamps, S Do, A Do, T Dorman, A Fang, F Fu, Y Hu, P Hua, A Kenton, S Lai, H Lao, HI Lewis, J Lewis, S Lin, SP Loh, P Malaj, E Nguyen, T Pan, H Phan, S Qi, S Qian, Y Ray, L Ren, Q Shaull, S Sloan, D Song, L Wang, Q Wang, Y Wang, Z White, J Willingham, D Wu, H Yao, Z Zhan, M Zhang, G Chissoe, S Murray, J Miller, N Minx, P Fulton, R Johnson, D Bemis, G Bentley, D Bradshaw, H Bourne, S Cordes, M Du, Z Fulton, L Goela, D Graves, T Hawkins, J Hinds, K Kemp, K Latreille, P Layman, D Ozersky, P Rohlfing, T Scheet, P Walker, C Wamsley, A Wohldmann, P Pepin, K Nelson, J Korf, I Bedell, JA Hillier, L Mardis, E Waterston, R Wilson, R Emanuel, BS Shaikh, T Kurahashi, H Saitta, S Budarf, ML McDermid, HE Johnson, A Wong, ACC Morrow, BE Edelman, L Kim, UJ Shizuya, H Simon, MI Dumanski, JP Peyrard, M Kedra, D Seroussi, E Fransson, I Tapia, I Bruder, CE O'Brien, KP
Citation: I. Dunham et al., The DNA sequence of human chromosome 22, NATURE, 402(6761), 1999, pp. 489-495
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation
Authors: Edelmann, L Spiteri, E McCain, N Goldberg, R Pandita, RK Duong, S Fox, J Blumenthal, D Lalani, SR Shaffer, LG Morrow, BE
Citation: L. Edelmann et al., A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation, AM J HU GEN, 65(6), 1999, pp. 1608-1616
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
Authors: Edelmann, L Pandita, RK Morrow, BE
Citation: L. Edelmann et al., Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome, AM J HU GEN, 64(4), 1999, pp. 1076-1086
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a1.5-Mb region of overlap on chromosome 22q11
Authors: Funke, B Edelmann, L McCain, N Pandita, RK Ferreira, J Merscher, S Zohouri, M Cannizzaro, L Shanske, A Morrow, BE
Citation: B. Funke et al., Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a1.5-Mb region of overlap on chromosome 22q11, AM J HU GEN, 64(3), 1999, pp. 747-758
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