A second generation human haplotype map of over 3.1 million SNPs

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

Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Autor: Kosho, T., Okamoto, N., Imai, Y., Ohashi, H., van Eerde, A. M., Chrzanowska, K., Clayton-Smith, J., Kingston, H., Mari, F., Aggarwal, S., Mowat, D., Niikawa, N., Hiraki, Y., Matsumoto, N., Fukushima, Y., Josifova, D., Dean, J., Smigiel, R., Sakazume, S., Silengo, M., Tinschert, S., Kawame, H., Yano, S., Yamagata, T., van Bon, B. W. M., Vulto-van Silfhout, A. T., Ben-Omran, T., Bigoni, S., Alanay, Y., Miyake, N., Tsurusaki, Y., Santen, G. W. E., Wieczorek, D., Wollnik, B., Hennekam, R. C. M.

Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a228f8b7541cbb1930efda7147ed9c9d
http://hdl.handle.net/11365/1078708

Down-regulation of ABCC11 protein (MRP8) in human breast cancer

Autor: Sosonkina, N., Nakashima, M., Ohta, T., Niikawa, N., Starenki, D.

Aim of this article is to investigate the expression of ABCC11 (MRP8) protein in normal breast tissue, and examine the difference in ABCC11 mRNA and protein expression between normal breast and breast cancer tissues taking into account ABCC11 genotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1456::fd7824085af0fbe3526cfc09a01572fe
http://dspace.nbuv.gov.ua/handle/123456789/32317

Genotypic and phenotypic spectrum in the Tricho-Rhino-Phalangeal Syndromes Types I and III

Autor: Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum, D., Hirsche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

Publikováno v: Lüdecke, H-J, Schaper, J, Meinecke, P, Momeni, P, Gross, S, von Holtum, D, Hirsche, H, Abramowicz, M J, Albrecht, B, Apacik, C, Christen, H-J, Claussen, U, Devriendt, K, Fastnacht, E, Forderer, A, Friedrich, U, Goodship, T H J, Greiwe, M, Hamm, H, Hennekam, R C M, Hinkel, G K, Hoeltzenbein, M, Kayserili, H, Majewski, F, Mathieu, M, McLeod, R, Midro, A T, Moog, U, Nagai, T, Niikawa, N, Ørstavik, K H, Plöchl, E, Seitz, C, Schmidtke, J, Tranebjærg, L, Tsukahara, M, Wittwer, B, Zabel, B, Gillessen-Kaesbach, G & Horsthemke, B 2001, ' Genotypic and phenotypic spectrum in the Tricho-Rhino-Phalangeal Syndromes Types I and III ' Am. J. Hum. Genet., vol. 68, no. 1, pp. 81-91 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::5ed490d57e2d9054cf531d4011c39c91
https://pure.au.dk/portal/da/publications/genotypic-and-phenotypic-spectrum-in-the-trichorhinophalangeal-syndromes-types-i-and-iii(59de0670-ba6f-11da-bee9-02004c4f4f50).html

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