Human Molecular Genetics, 0964-6906

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  1. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

    Purrington, K. S., Slettedahl, S., Bolla, M. K., Michailidou, K., Czene, K., Nevanlinna, H., Bojesen, S. E., Andrulis, I. L., Cox, A., Hall, P., Carpenter, J., Yannoukakos, D., Haiman, C. A., Fasching, P. A., Mannermaa, A., Winqvist, R., Brenner, H., Lindblom, A., Chenevix-Trench, G., Benitez, J. & 143 othersSwerdlow, A., Kristensen, V., Guénel, P., Meindl, A., Darabi, H., Eriksson, M., Fagerholm, R., Aittomäki, K., Blomqvist, C., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Wang, X., Olswold, C., Olson, J. E., Mulligan, A. M., Knight, J. A., Tchatchou, S., Reed, M. W. R., Cross, S. S., Liu, J., Li, J., Humphreys, K., Clarke, C., Scott, R., Fostira, F., Fountzilas, G., Konstantopoulou, I., Henderson, B. E., Schumacher, F., Le Marchand, L., Ekici, A. B., Hartmann, A., Beckmann, M. W., Hartikainen, J. M., Kosma, V-M., Kataja, V., Jukkola-Vuorinen, A., Pylkäs, K., Kauppila, S., Dieffenbach, A. K., Stegmaier, C., Arndt, V., Margolin, S., Balleine, R., Arias Perez, J. I., Zamora, M. P., Menéndez, P., Ashworth, A., Jones, M., Orr, N., Arveux, P., Kerbrat, P., Truong, T., Bugert, P., Toland, A. E., Ambrosone, C. B., Labrèche, F., Goldberg, M. S., Dumont, M., Ziogas, A., Lee, E., Dite, G. S., Apicella, C., Southey, M. C., Long, J., Shrubsole, M., Deming-Halverson, S., Ficarazzi, F., Barile, M., Peterlongo, P., Durda, K., Jaworska-Bieniek, K., Tollenaar, R. A. E. M., Seynaeve, C., Brüning, T., Ko, Y-D., van Deurzen, C. H. M., Martens, J. W. M., Kriege, M., Figueroa, J. D., Chanock, S. J., Lissowska, J., Tomlinson, I., Kerin, M. J., Miller, N., Schneeweiss, A., Tapper, W. J., Gerty, S. M., Durcan, L., McLean, C., Milne, R. L., Baglietto, L., Dos Santos Silva, I., Fletcher, O., Johnson, N., Van't Veer, L. J., Cornelissen, S., Asta Försti, Torres, D., Rüdiger, T., Rudolph, A., Flesch-Janys, D., Nickels, S., Weltens, C., Floris, G., Moisse, M., Dennis, J., Wang, Q., Dunning, A. M., Shah, M., Brown, J., Simard, J., Anton-Culver, H., Neuhausen, S. L., Hopper, J. L., Bogdanova, N., Dörk, T., Zheng, W., Radice, P., Jakubowska, A., Lubinski, J., Devillee, P., Brauch, H., Hooning, M., García-Closas, M., Sawyer, E., Burwinkel, B., Marmee, F., Eccles, D. M., Giles, G. G., Peto, J., Schmidt, M., Broeks, A., Hamann, U., Chang-Claude, J., Lambrechts, D., Pharoah, P. D. P., Easton, D., Pankratz, V. S., Slager, S., Vachon, C. M. & Couch, F. J., 2014, In : Human Molecular Genetics. 23, 22, p. 6034-6046

    Research output: Contribution to journalArticle

  2. FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.

    Qi, Q., Kilpeläinen, T. O., Downer, M. K., Tanaka, T., Smith, C. E., Sluijs, I., Sonestedt, E., Chu, A. Y., Renström, F., Lin, X., Angquist, L. H., Huang, J., Liu, Z., Li, Y., Asif Ali, M., Xu, M., Ahluwalia, T. S., Boer, J. M. A., Chen, P., Daimon, M. & 89 othersEriksson, J., Perola, M., Friedlander, Y., Gao, Y-T., Heppe, D. H. M., Holloway, J. W., Houston, D. K., Kanoni, S., Kim, Y-M., Laaksonen, M. A., Jääskeläinen, T., Lee, N. R., Lehtimäki, T., Lemaitre, R. N., Lu, W., Luben, R. N., Manichaikul, A., Männistö, S., Marques-Vidal, P., Monda, K. L., Ngwa, J. S., Perusse, L., van Rooij, F. J. A., Xiang, Y-B., Wen, W., Wojczynski, M. K., Zhu, J., Borecki, I. B., Bouchard, C., Cai, Q., Cooper, C., Dedoussis, G. V., Deloukas, P., Ferrucci, L., Forouhi, N. G., Hansen, T., Christiansen, L., Hofman, A., Johansson, I., Jørgensen, T., Karasawa, S., Khaw, K-T., Kim, M-K., Kristiansson, K., Li, H., Lin, X., Liu, Y., Lohman, K. K., Long, J., Mikkilä, V., Mozaffarian, D., North, K., Pedersen, O., Raitakari, O., Rissanen, H., Tuomilehto, J., van der Schouw, Y. T., Uitterlinden, A. G., Carola Zillikens, M., Franco, O. H., Shyong Tai, E., Ou Shu, X., Siscovick, D. S., Toft, U., Monique Verschuren, W. M., Vollenweider, P., Wareham, N. J., Witteman, J. C. M., Zheng, W., Ridker, P. M., Kang, J. H., Liang, L., Jensen, M. K., Curhan, G. C., Pasquale, L. R., Hunter, D. J., Mohlke, K. L., Uusitupa, M., Adrienne Cupples, L., Rankinen, T., Marju Orho-Melander, Wang, T., Chasman, D. I., Paul Franks, Sørensen, T. I. A., Hu, F. B., Loos, R. J. F., Nettleton, J. A. & Qi, L., 2014, In : Human Molecular Genetics. 23, 25, p. 6961-6972

    Research output: Contribution to journalArticle

  3. Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

    Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F. F., Ebert, A-K., Bartels, E., Rösch, W., Boemers, T. M., Hirsch, K., Schmiedeke, E., Meesters, C., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjöld, A., Barker, G., Clementson Kockum, C., Zwink, N. & 13 othersHolmdahl, G., Läckgren, G., Jenetzky, E., Feitz, W. F., Marcelis, C., Wijers, C. H. W., van Rooij, I. A. L. M., Gearhart, J. P., Herrmann, B. G., Ludwig, M., Boyadjiev, S. A., Nöthen, M. M. & Mattheisen, M., 2014, In : Human Molecular Genetics. 23, 20, p. 5536-5544

    Research output: Contribution to journalArticle

  4. High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes

    Ribbhammar, U., Flornes, L., Backdahl, L., Holger Luthman, Fossum, S. & Lorentzen, JC., 2003, In : Human Molecular Genetics. 12, 17, p. 2087-2096

    Research output: Contribution to journalArticle

  5. Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood.

    Tina Rönn, Petr Volkov, Gillberg, L., Kokosar, M., Alexander Perfilyev, Jacobsen, A. L., Jørgensen, S. W., Brøns, C., Jansson, P-A., Karl-Fredrik Eriksson, Pedersen, O., Hansen, T., Leif Groop, Stener-Victorin, E., Allan Vaag, Emma A Nilsson & Charlotte Ling, 2015, In : Human Molecular Genetics. 24, 13, p. 3792-3813

    Research output: Contribution to journalArticle

  6. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype

    Rueda, B., Broen, J., Simeon, C., Hesselstrand, R., Diaz, B., Suarez, H., Ortego-Centeno, N., Riemekasten, G., Fonollosa, V., Vonk, M. C., van den Hoogen, F. H. J., Sanchez-Roman, J., Aguirre-Zamorano, M. A., Garcia-Portales, R., Pros, A., Camps, M. T., Gonzalez-Gay, M. A., Coenen, M. J. H., Airo, P., Beretta, L. & 6 othersScorza, R., van Laar, J., Gonzalez-Escribano, M. F., Nelson, J. L., Radstake, T. R. D. J. & Martin, J., 2009, In : Human Molecular Genetics. 18, 11, p. 2071-2077

    Research output: Contribution to journalArticle

  7. Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

    Schick, U. M., Auer, P. L., Bis, J. C., Lin, H., Wei, P., Pankratz, N., Lange, L. A., Brody, J., Stitziel, N. O., Kim, D. S., Carlson, C. S., Fornage, M., Haessler, J., Hsu, L., Jackson, R. D., Kooperberg, C., Leal, S. M., Psaty, B. M., Boerwinkle, E., Tracy, R. & 24 othersArdissino, D., Shah, S., Willer, C., Loos, R., Olle Melander, Mcpherson, R., Hovingh, K., Reilly, M., Watkins, H., Girelli, D., Fontanillas, P., Chasman, D. I., Gabriel, S. B., Gibbs, R., Nickerson, D. A., Kathiresan, S., Peters, U., Dupuis, J., Wilson, J. G., Rich, S. S., Morrison, A. C., Benjamin, E. J., Gross, M. D. & Reiner, A. P., 2015, In : Human Molecular Genetics. 24, 2, p. 559-571

    Research output: Contribution to journalArticle

  8. A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among

    Schumacher, F. R., Cheng, I., Freedman, M. L., Mucci, L., Allen, N. E., Pollak, M. N., Hayes, R. B., Stram, D. O., Canzian, F., Henderson, B. E., Hunter, D. J., Virtamo, J., Manjer, J., Gaziano, J. M., Kolonel, L. N., Tjonneland, A., Albanes, D., Calle, E. E., Giovannucci, E., Crawford, E. D. & 18 othersHaiman, C. A., Kraft, P., Willett, W. C., Thun, M. J., Marchand, L. L., Kaaks, R., Feigelson, H. S., Bueno-de-Mesquita, H. B., Palli, D., Riboli, E., Lund, E., Amiano, P., Andriole, G., Dunning, A. M., Trichopoulos, D., Stampfer, M. J., Key, T. J. & Ma, J., 2010, In : Human Molecular Genetics. 19, 15, p. 3089-3101

    Research output: Contribution to journalArticle

  9. Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

    Segal-Salto, M., Hansson, K., Sapir, T., Kaplan, A., Levy, T., Schweizer, M., Frotscher, M., Peter James & Reiner, O., 2017 May 1, In : Human Molecular Genetics. 26, 9, p. 1678-1693 16 p., ddx074.

    Research output: Contribution to journalArticle

  10. Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.

    Sharoyko, V., Abels, M., Jiangming Sun, Nicholas, L., Mollet, I., Stamenkovic, J., Göhring, I., Malmgren, S., Storm, P., Fadista, J., Peter Spégel, Metodiev, M. D., Larsson, N-G., Lena Eliasson, Nils Wierup & Hindrik Mulder, 2014, In : Human Molecular Genetics. 23, 21, p. 5733-5749

    Research output: Contribution to journalArticle