Zobrazeno 1 - 10
of 723
pro vyhledávání: '"Tsui, LC"'
Autor:
Frazer, KA, Ballinger, DG, Cox, DR, Hinds, DA, Stuve, LL, Gibbs, RA, Belmont, JW, Boudreau, A, Hardenbol, P, Leal, SM, Pasternak, S, Wheeler, DA, Willis, TD, Yu, F, Yang, H, Zeng, C, Gao, Y, Hu, H, Hu, W, Li, C, Lin, W, Liu, S, Pan, H, Tang, X, Wang, J, Wang, W, Yu, J, Zhang, B, Zhang, Q, Zhao, H, Zhou, J, Gabriel, SB, Barry, R, Blumenstiel, B, Camargo, A, Defelice, M, Faggart, M, Goyette, M, Gupta, S, Moore, J, Nguyen, H, Onofrio, RC, Parkin, M, Roy, J, Stahl, E, Winchester, E, Ziaugra, L, Altshuler, D, Shen, Y, Yao, Z, Huang, W, Chu, X, He, Y, Jin, L, Liu, Y, Sun, W, Wang, H, Wang, Y, Xiong, X, Xu, L, Waye, MM, Tsui, SK, Xue, H, Wong, JT, Galver, LM, Fan, JB, Gunderson, K, Murray, SS, Oliphant, AR, Chee, MS, Montpetit, A, Chagnon, F, Ferretti, V, Leboeuf, M, Olivier, JF, Phillips, MS, Roumy, S, Sallée, C, Verner, A, Hudson, TJ, Kwok, PY, Cai, D, Koboldt, DC, Miller, RD, Pawlikowska, L, Taillon-Miller, P, Xiao, M, Tsui, LC, Mak, W, Song, YQ, Tam, PK, Nakamura, Y, Kawaguchi, T, Kitamoto, T, Morizono, T, Nagashima, A, Ohnishi, Y, Sekine, A, Tanaka, T, Tsunoda, T, Deloukas, P, Bird, CP, Delgado, M, Dermitzakis, ET, Gwilliam, R, Hunt, S, Morrison, J, Powell, D, Stranger, BE, Whittaker, P, Bentley, DR, Daly, MJ, de Bakker, PI, Barrett, J, Chretien, YR, Maller, J, McCarroll, S, Patterson, N, Pe'er, I, Price, A, Purcell, S, Richter, DJ, Sabeti, P, Saxena, R, Schaffner, SF, Sham, PC, Varilly, P, Stein, LD, Krishnan, L, Smith, AV, Tello-Ruiz, MK, Thorisson, GA, Chakravarti, A, Chen, PE, Cutler, DJ, Kashuk, CS, Lin, S, Abecasis, GR, Guan, W, Li, Y, Munro, HM, Qin, ZS, Thomas, DJ, McVean, G, Auton, A, Bottolo, L, Cardin, N, Eyheramendy, S, Freeman, C, Marchini, J, Myers, S, Spencer, C, Stephens, M, Donnelly, P, Cardon, LR, Clarke, G, Evans, DM, Morris, AP, Weir, BS, Mullikin, JC, Sherry, ST, Feolo, M, Skol, A, Zhang, H, Matsuda, I, Fukushima, Y, Macer, DR, Suda, E, Rotimi, CN, Adebamowo, CA, Ajayi, I, Aniagwu, T, Marshall, PA, Nkwodimmah, C, Royal, CD, Leppert, MF, Dixon, M, Peiffer, A, Qiu, R, Kent, A, Kato, K, Niikawa, N, Adewole, IF, Knoppers, BM, Foster, MW, Clayton, EW, Watkin, J, Muzny, D, Nazareth, L, Sodergren, E, Weinstock, GM, Yakub, I, Birren, BW, Wilson, RK, Fulton, LL, Rogers, J, Burton, J, Carter, NP, Clee, CM, Griffiths, M, Jones, MC, McLay, K, Plumb, RW, Ross, MT, Sims, SK, Willey, DL, Chen, Z, Han, H, Kang, L, Godbout, M, Wallenburg, JC, L'Archevêque, P, Bellemare, G, Saeki, K, An, D, Fu, H, Li, Q, Wang, Z, Wang, R, Holden, AL, Brooks, LD, McEwen, JE, Guyer, MS, Wang, VO, Peterson, JL, Shi, M, Spiegel, J, Sung, LM, Zacharia, LF, Collins, FS, Kennedy, K, Jamieson, R, Stewart, J
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the population
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc69d5467446013e06f8e6b3ce330a21
https://ora.ox.ac.uk/objects/uuid:31fded11-b4a3-4eca-b227-9d67121ace10
https://ora.ox.ac.uk/objects/uuid:31fded11-b4a3-4eca-b227-9d67121ace10
Autor:
Coyle, B, Reardon, W, Herbrick, JA, Tsui, LC, Gausden, E, Lee, J, Coffey, R, Grueters, A, Grossman4, A, Phelps, PD, Luxon, L, Kendall-Taylor, P, Scherer, SW, Trembath, RC
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::df8857873b7d40b35337c3d4eddabc9b
https://doi.org/10.1093/hmg/7.7.1105
https://doi.org/10.1093/hmg/7.7.1105
Autor:
Dohner, K., Brown, J., Hehmann, U., Hetzel, C., Stewart, J., Lowther, G., Scholl, C., Frohling, S., Cuneo, A., Tsui, Lc, Lichter, P., Stephen W. Scherer, Dohner, H.
Publikováno v:
ResearcherID
Loss of chromosome 7 (−7) or deletion of the long arm (7q−) are recurring chromosome abnormalities in myeloid leukemias. The association of −7/7q− with myeloid leukemia suggests that these regions contain novel tumor suppressor gene(s), whose
Autor:
FRIEDMAN KJ, LING SC, MACEK M. JR, HANDLER AJ, ZHOU Z, PACE RG, MACK DR, COLOMBO JL, VVROV V, SPINA M, SALVATORE F, PHILLIPS MJ, ZIELENSKI J, TSUI LC, DURIE PR, SILVERMAN LM, KNOWLES M.R., CASTALDO, GIUSEPPE
Selezionato per la comunicazione orale.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::510450b94866be3c384ca6a3bafae715
http://hdl.handle.net/11588/182722
http://hdl.handle.net/11588/182722
Autor:
Sabeti, PC, Varilly, P, Fry, B, Lohmueller, J, Hostetter, E, Cotsapas, C, Xie, X, Byrne, EH, McCarroll, SA, Gaudet, R, Schaffner, SF, Lander, ES, Frazer, KA, Ballinger, DG, Cox, DR, Hinds, DA, Stuve, LL, Gibbs, RA, Belmont, JW, Boudreau, A, Hardenbol, P, Leal, SM, Pasternak, S, Wheeler, DA, Willis, TD, Yu, F, Yang, H, Zeng, C, Gao, Y, Hu, H, Hu, W, Li, C, Lin, W, Liu, S, Pan, H, Tang, X, Wang, J, Wang, W, Yu, J, Zhang, B, Zhang, Q, Zhao, H, Zhou, J, Gabriel, SB, Barry, R, Blumenstiel, B, Camargo, A, Defelice, M, Faggart, M, Goyette, M, Gupta, S, Moore, J, Nguyen, H, Onofrio, RC, Parkin, M, Roy, J, Stahl, E, Winchester, E, Ziaugra, L, Altshuler, D, Shen, Y, Yao, Z, Huang, W, Chu, X, He, Y, Jin, L, Liu, Y, Sun, W, Wang, H, Wang, Y, Xiong, X, Xu, L, Waye, MM, Tsui, SK, Xue, H, Wong, JT, Galver, LM, Fan, JB, Gunderson, K, Murray, SS, Oliphant, AR, Chee, MS, Montpetit, A, Chagnon, F, Ferretti, V, Leboeuf, M, Olivier, JF, Phillips, MS, Roumy, S, Sallée, C, Verner, A, Hudson, TJ, Kwok, PY, Cai, D, Koboldt, DC, Miller, RD, Pawlikowska, L, Taillon-Miller, P, Xiao, M, Tsui, LC, Mak, W, Song, YQ, Tam, PK, Nakamura, Y, Kawaguchi, T, Kitamoto, T, Morizono, T, Nagashima, A, Ohnishi, Y, Sekine, A, Tanaka, T, Tsunoda, T, Deloukas, P, Bird, CP, Delgado, M, Dermitzakis, ET, Gwilliam, R, Hunt, S, Morrison, J, Powell, D, Stranger, BE, Whittaker, P, Bentley, DR, Daly, MJ, de Bakker, PI, Barrett, J, Chretien, YR, Maller, J, McCarroll, S, Patterson, N, Pe'er, I, Price, A, Purcell, S, Richter, DJ, Sabeti, P, Saxena, R, Sham, PC, Stein, LD, Krishnan, L, Smith, AV, Tello-Ruiz, MK, Thorisson, GA, Chakravarti, A, Chen, PE, Cutler, DJ, Kashuk, CS, Lin, S, Abecasis, GR, Guan, W, Li, Y, Munro, HM, Qin, ZS, Thomas, DJ, McVean, G, Auton, A, Bottolo, L, Cardin, N, Eyheramendy, S, Freeman, C, Marchini, J, Myers, S, Spencer, C, Stephens, M, Donnelly, P, Cardon, LR, Clarke, G, Evans, DM, Morris, AP, Weir, BS, Johnson, TA, Mullikin, JC, Sherry, ST, Feolo, M, Skol, A, Zhang, H, Matsuda, I, Fukushima, Y, Macer, DR, Suda, E, Rotimi, CN, Adebamowo, CA, Ajayi, I, Aniagwu, T, Marshall, PA, Nkwodimmah, C, Royal, CD, Leppert, MF, Dixon, M, Peiffer, A, Qiu, R, Kent, A, Kato, K, Niikawa, N, Adewole, IF, Knoppers, BM, Foster, MW, Clayton, EW, Watkin, J, Muzny, D, Nazareth, L, Sodergren, E, Weinstock, GM, Yakub, I, Birren, BW, Wilson, RK, Fulton, LL, Rogers, J, Burton, J, Carter, NP, Clee, CM, Griffiths, M, Jones, MC, McLay, K, Plumb, RW, Ross, MT, Sims, SK, Willey, DL, Chen, Z, Han, H, Kang, L, Godbout, M, Wallenburg, JC, L'Archevêque, P, Bellemare, G, Saeki, K, An, D, Fu, H, Li, Q, Wang, Z, Wang, R, Holden, AL, Brooks, LD, McEwen, JE, Guyer, MS, Wang, VO, Peterson, JL, Shi, M, Spiegel, J, Sung, LM, Zacharia, LF, Collins, FS, Kennedy, K, Jamieson, R, Stewart, J
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c93820125ce76f402fc0df63158262a
https://europepmc.org/articles/PMC2687721/
https://europepmc.org/articles/PMC2687721/
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz.. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2.3(21 kb), deletes 21,080 bp spanning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a2eb34931b3ef03e41c7d846c93df28b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053081
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053081
Autor:
Torre, M, Jasonni, V, Seri, M, Martucciello, G, Verderio, D, Tsui, LC, Ponti, E, Belloni, E, Ferrari, M, Scherer, SW
published_or_final_version
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______961::60007ea15f838f1f0d13d8d3f8a02e63
http://hdl.handle.net/10722/42309
http://hdl.handle.net/10722/42309
Autor:
Crackower, MA, Scherer, SW, Rommens, JM, Hui, CC, Poorkaj, P, Soder, S, Cobben, JM, Hudgins, L, Evans, JP, Tsui, LC
Publikováno v:
Human Molecular Genetics, 5(5), 571-579. Oxford University Press
Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ac47b8f896f97decc161ead18b435b2d
https://research.rug.nl/en/publications/58d51ef3-85df-4d95-b00b-f6c4a7cd31ff
https://research.rug.nl/en/publications/58d51ef3-85df-4d95-b00b-f6c4a7cd31ff
Autor:
Stephens, K, Evans, JP, Wijsman, EM, Kukolich, M, Scherer, SW, Tsui, LC, Palmer, S, Zlotogora, J
Reply to Zlotogora: Heterogeneity of the autosomal dominant split hand/split foot malformation
link_to_OA_fulltext
link_to_OA_fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______961::bb98b056a4ca00cbf2e7d25b10cf2931
http://hdl.handle.net/10722/143123
http://hdl.handle.net/10722/143123
published_or_final_version
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______961::f84a3783c2ec8a80177fc057889c2939
http://hdl.handle.net/10722/42303
http://hdl.handle.net/10722/42303