Human Molecular Genetics, 0964-6906

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  1. Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus

    Acevedo, N., Reinius, L. E., Greco, D., Gref, A., Christina Orsmark-Pietras, Helena Persson, Pershagen, G., Hedlin, G., Melén, E., Scheynius, A., Kere, J. & Söderhäll, C., 2015 Feb 1, In : Human Molecular Genetics. 24, 3, p. 875-90 16 p.

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  2. High-resolution mapping of a complex disease, a model for rheumatoid arthritis, using heterogeneous stock mice

    Emma Ahlqvist, Ekman, D., Lindvall, T., Popovic, M., Förster, M., Hultqvist, M., Klaczkowska, D., Teneva, I., Johannesson, M., Flint, J., Valdar, W., Kutty Selva, N. & Holmdahl, R., 2011, In : Human Molecular Genetics. 20, 15, p. 3031-3041

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  3. Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women

    Albagha, O. M. E., Tasker, P. N., Fiona E A McGuigan, Reid, D. M. & Ralston, S. H., 2002 Sep 15, In : Human Molecular Genetics. 11, 19, p. 2289-95

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  4. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

    Amos, C. I., Wang, L-E., Lee, J. E., Gershenwald, J. E., Chen, W. V., Fang, S., Kosoy, R., Zhang, M., Qureshi, A. A., Vattathil, S., Schacherer, C. W., Gardner, J. M., Wang, Y., Bishop, D. T., Barrett, J. H., MacGregor, S., Hayward, N. K., Martin, N. G., Duffy, D. L., Mann, G. J. & 15 othersCust, A., Hopper, J., Brown, K. M., Grimm, E. A., Xu, Y., Han, Y., Jing, K., McHugh, C., Laurie, C. C., Doheny, K. F., Pugh, E. W., Seldin, M. F., Han, J., Wei, Q. & GenoMEL Investigators, 2011 Dec 15, In : Human Molecular Genetics. 20, 24, p. 5012-23 12 p.

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  5. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P. & 161 othersMai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A-M., Kruse, T. A., Jensen, U. B., Crueger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Niklas Loman, Katja Harbst, Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Gorski, B., Osorio, A., Ramon y Cajal, T., Fostira, F., Andres, R., Benitez, J., Hamann, U., Hogervorst, F. B., Rookus, M. A., Hooning, M. J., Nelen, M. R., van der Luijt, R. B., van Os, T. A. M., van Asperen, C. J., Devilee, P., Meijers-Heijboer, H. E. J., Garcia, E. B. G., Peock, S., Cook, M., Frost, D., Platte, R., Leyland, J., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Eccles, D., Ong, K., Cook, J., Douglas, F., Paterson, J., Kennedy, M. J., Miedzybrodzka, Z., Godwin, A., Stoppa-Lyonnet, D., Buecher, B., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Lasset, C., Leroux, D., Faivre, L., Bronner, M., Prieur, F., Nogues, C., Rouleau, E., Pujol, P., Coupier, I., Frenay, M., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Tea, M-K., Pfeiler, G., Dressler, A. C., Hansen, T. V. O., Jonson, L., Ejlertsen, B., Barkardottir, R. B., Kirchhoff, T., Offit, K., Piedmonte, M., Rodriguez, G., Small, L., Boggess, J., Blank, S., Basil, J., Azodi, M., Toland, A. E., Montagna, M., Tognazzo, S., Agata, S., Imyanitov, E., Janavicius, R., Lazaro, C., Blanco, I., Pharoah, P. D. P., Sucheston, L., Karlan, B. Y., Walsh, C. S., Olah, E., Bozsik, A., Teo, S-H., Seldon, J. L., Beattie, M. S., van Rensburg, E. J., Sluiter, M. D., Diez, O., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ruehl, I., Varon-Mateeva, R., Kast, K., Deissler, H., Niederacher, D., Arnold, N., Gadzicki, D., Schoenbuchner, I., Caldes, T., de la Hoya, M., Nevanlinna, H., Aittomaki, K., Dumont, M., Chiquette, J., Tischkowitz, M., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Fredericksen, Z., Wang, X., Pankratz, V. S., Couch, F., Simard, J., Easton, D. F., Chenevix-Trench, G., Åke Borg & Håkan Olsson, 2011, In : Human Molecular Genetics. 20, 16, p. 3304-3321

    Research output: Contribution to journalArticle

  6. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L. & 117 othersRadice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A-M., Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Efrat, ., Baruch, R. G., Friedman, E., Katja Harbst, Barbany-Bustinza, G., Rantala, J., Hans Ehrencrona, Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benitez, J., Hamann, U., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Leone, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. V. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Suttner, C., Schoenbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F. & Chenevix-Trench, G., 2009, In : Human Molecular Genetics. 18, 22, p. 4442-4456

    Research output: Contribution to journalArticle

  7. Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish

    Aspatwar, A., Tolvanen, M. E. E., Jokitalo, E., Parikka, M., Ortutay, C., Harjula, S-K. E., Ramet, M., Mauno Vihinen & Parkkila, S., 2013, In : Human Molecular Genetics. 22, 3, p. 417-432

    Research output: Contribution to journalArticle

  8. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

    Baker, N. L., Mörgelin, M., Peat, R., Goemans, N., North, K. N., Bateman, J. F. & Lamande, S. R., 2005, In : Human Molecular Genetics. 14, 2, p. 279-293

    Research output: Contribution to journalArticle

  9. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

    Baranowska Körberg, I., Hofmeister, W., Markljung, E., Cao, J., Nilsson, D., Ludwig, M., Draaken, M., Holmdahl, G., Barker, G., Reutter, H., Vukojević, V., Clementson Kockum, C., Lundin, J., Lindstrand, A. & Nordenskjöld, A., 2015, In : Human Molecular Genetics. 24, 18, p. 5069-5078

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  10. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

    Bedoni, N., Haer-Wigman, L., Vaclavik, V., Tran, V. H., Farinelli, P., Balzano, S., Royer-Bertrand, B., El-Asrag, M. E., Bonny, O., Ikonomidis, C., Litzistorf, Y., Nikopoulos, K., Yioti, G. G., Stefaniotou, M. I., McKibbin, M., Booth, A. P., Ellingford, J. M., Black, G. C. M., Toomes, C., Inglehearn, C. F. & 11 othersHoyng, C. B., Bax, N., Klaver, C. C. W., Thiadens, A. A., Murisier, F., Schorderet, D. F., Ali, M., Cremers, F. P. M., Sten Andréasson, Munier, F. L. & Rivolta, C., 2016, In : Human Molecular Genetics. 25, 20, p. 4546-4555 10 p.

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