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Results: 1-22 |
Results: 22
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Authors: Bruder, CEG Hirvela, C Tapia-Paez, I Fransson, I Segraves, R Hamilton, G Zhang, XX Evans, DG Wallace, AJ Baser, ME Zucman-Rossi, J Hergersberg, M Boltshauser, E Papi, L Rouleau, GA Poptodorov, G Jordanova, A Rask-Andersen, H Kluwe, L Mautner, V Sainio, M Hung, G Mathiesen, T Moller, C Pulst, SM Harder, H Heiberg, A Honda, M Miimura, M Sahlen, S Blennow, E Albertson, DG Pinkel, D Dumanski, JP
Citation: Ceg. Bruder et al., High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH, HUM MOL GEN, 10(3), 2001, pp. 271-282
The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3
Authors: Kiss, H Kedra, D Kiss, C Kost-Alimova, M Yang, Y Klein, G Imreh, S Dumanski, JP
Citation: H. Kiss et al., The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3, GENOMICS, 73(1), 2001, pp. 10-19
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Authors: Grigelioniene, G Schoumans, J Neumeyer, L Ivarsson, SA Eklof, O Enkvist, O Tordai, P Fosdal, I Myhre, AG Westphal, O Nilsson, NO Elfving, M Ellis, I Anderlid, BM Fransson, I Tapia-Paez, I Nordenskjold, M Hagenas, L Dumanski, JP
Citation: G. Grigelioniene et al., Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity, HUM GENET, 109(5), 2001, pp. 551-558
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers
Authors: Tapia-Paez, I Kost-Alimova, M Hu, P Roe, BA Blennow, E Fedorova, L Imreh, S Dumanski, JP
Citation: I. Tapia-paez et al., The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers, HUM GENET, 109(2), 2001, pp. 167-177
Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis
Authors: Sjoblom, T Shimizu, A O'Brien, KP Pietras, K Dal Cin, P Buchdunger, E Dumanski, JP Ostman, A Heldin, CH
Citation: T. Sjoblom et al., Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis, CANCER RES, 61(15), 2001, pp. 5778-5783
A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFBfusion identical to a case of giant cell fibroblastoma
Authors: Vanni, R Faa, G Dettori, T Melis, GB Dumanski, JP O'Brien, KP
Citation: R. Vanni et al., A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFBfusion identical to a case of giant cell fibroblastoma, VIRCHOWS AR, 437(1), 2000, pp. 95-100
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype inhypochondroplasia
Authors: Grigelioniene, G Eklof, O Laurencikas, E Ollars, B Hertel, NT Dumanski, JP Hagenas, L
Citation: G. Grigelioniene et al., Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype inhypochondroplasia, ACT PAEDIAT, 89(9), 2000, pp. 1072-1076
Fine mapping of the constitutional translocation t(11;22)(q23;q11)
Authors: Tapia-Paez, I O'Brien, KP Kost-Alimova, M Sahlen, S Kedra, D Bruder, CEG Andersson, B Roe, BA Hu, P Imreh, S Blennow, E Dumanski, JP
Citation: I. Tapia-paez et al., Fine mapping of the constitutional translocation t(11;22)(q23;q11), HUM GENET, 106(5), 2000, pp. 506-516
Characterization of five novel human genes in the 11q13-q22 region
Authors: O'Brien, KP Tapia-Paez, I Stahle-Backdahl, M Kedra, D Dumanski, JP
Citation: Kp. O'Brien et al., Characterization of five novel human genes in the 11q13-q22 region, BIOC BIOP R, 273(1), 2000, pp. 90-94
Duplications on human chromosome 22 reveal a novel ret finger protein-likegene family with sense and endogenous antisense transcripts
Authors: Seroussi, E Kedra, D Pan, HQ Peyrard, M Schwartz, C Scambler, P Donnai, D Roe, BA Dumanski, JP
Citation: E. Seroussi et al., Duplications on human chromosome 22 reveal a novel ret finger protein-likegene family with sense and endogenous antisense transcripts, GENOME RES, 9(9), 1999, pp. 803-814
Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene?
Authors: Bruder, CEG Ichimura, K Blennow, E Ikeuchi, T Yamaguchi, T Yuasa, Y Collins, VP Dumanski, JP
Citation: Ceg. Bruder et al., Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene?, GENE CHROM, 25(2), 1999, pp. 184-190
A 1-Mb PAC contig spanning the common eliminated region 1 (CER1) in microcell hybrid-derived SCID tumors
Authors: Yang, Y Kiss, H Kost-Alimova, M Kedra, D Fransson, I Seroussi, E Li, JF Szeles, A Kholodnyuk, I Imreh, MP Fodor, K Hadlaczky, G Klein, G Dumanski, JP Imreh, S
Citation: Y. Yang et al., A 1-Mb PAC contig spanning the common eliminated region 1 (CER1) in microcell hybrid-derived SCID tumors, GENOMICS, 62(2), 1999, pp. 147-155
TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM
Authors: Seroussi, E Kedra, D Kost-Alimova, M Sandberg-Nordqvist, AC Fransson, I Jacobs, JFM Fu, Y Pan, HQ Roe, BA Imreh, S Dumanski, JP
Citation: E. Seroussi et al., TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM, GENOMICS, 57(3), 1999, pp. 380-388
A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3
Authors: Kiss, H Kedra, D Yang, Y Kost-Alimova, M Kiss, C O'Brien, KP Fransson, I Klein, G Imreh, S Dumanski, JP
Citation: H. Kiss et al., A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3, HUM GENET, 105(6), 1999, pp. 552-559
A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene
Authors: Bruder, CEG Ichimura, K Tingby, O Hirakawa, K Komatsuzaki, A Tamura, A Yuasa, Y Collins, VP Dumanski, JP
Citation: Ceg. Bruder et al., A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene, HUM GENET, 104(5), 1999, pp. 418-424
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
The human LARGE gene from 22q12,3-q13.1 is a new, distinct member of the glycosyltransferase gene family
Authors: Peyrard, M Seroussi, E Sandberg-Nordqvist, AC Xie, YG Han, FY Fransson, I Collins, J Dunham, I Kost-Alimova, M Imreh, S Dumanski, JP
Citation: M. Peyrard et al., The human LARGE gene from 22q12,3-q13.1 is a new, distinct member of the glycosyltransferase gene family, P NAS US, 96(2), 1999, pp. 598-603
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
The dermatofibrosarcoma protuberans-associated collagen type I alpha 1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB
Authors: Shimizu, A O'Brien, KP Sjoblom, T Pietras, K Buchdunger, E Collins, VP Heldin, CH Dumanski, JP Ostman, A
Citation: A. Shimizu et al., The dermatofibrosarcoma protuberans-associated collagen type I alpha 1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB, CANCER RES, 59(15), 1999, pp. 3719-3723
The mouse ortholog of the human SMARCB1 gene encodes two splice forms
Authors: Bruder, CEG Dumanski, JP Kedra, D
Citation: Ceg. Bruder et al., The mouse ortholog of the human SMARCB1 gene encodes two splice forms, BIOC BIOP R, 257(3), 1999, pp. 886-890
Genomic structure, 5 ' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene
Authors: Betz, R Lagercrantz, J Kedra, D Dumanski, JP Nordenskjold, A
Citation: R. Betz et al., Genomic structure, 5 ' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene, BIOC BIOP R, 254(2), 1999, pp. 413-416
A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences
Authors: Gisselsson, D Hoglund, M O'Brien, KP Dumanski, JP Mertens, F Mandahl, N
Citation: D. Gisselsson et al., A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences, CANCER LETT, 133(2), 1998, pp. 129-134
Risultati: 1-22 |