Human Molecular Genetics, 0964-6906

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  1. 1995
  2. DNA-BASED MUTATION ANALYSIS OF BRUTONS TYROSINE KINASE GENE IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA

    VORECHOVSKY, I., Mauno Vihinen, DESAINTBASILE, G., HONSOVA, S., HAMMARSTROM, L., MULLER, S., NILSSON, L., FISCHER, A. & SMITH, CIE., 1995, In : Human Molecular Genetics. 4, 1, p. 51-58

    Research output: Contribution to journalArticle

  3. IDENTIFICATION OF BTK MUTATIONS IN 20 UNRELATED PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA (XLA)

    JIN, H., WEBSTER, ADB., Mauno Vihinen, SIDERAS, P., VORECHOVSKY, I., HAMMARSTROM, L., BERNATOWSKAMATUSZKIEWICZ, E., SMITH, CIE., BOBROW, M. & VETRIE, D., 1995, In : Human Molecular Genetics. 4, 4, p. 693-700

    Research output: Contribution to journalArticle

  4. 1999
  5. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

    Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Maria Råstam, Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A. & Leboyer, M., 1999, In : Human Molecular Genetics. 8, 5, p. 805-812

    Research output: Contribution to journalArticle

  6. 2001
  7. DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

    Esteller, M., Fraga, M. F., Guo, M., Garcia-Foncillas, J., Hedenfalk, I., Godwin, A. K., Trojan, J., Vaurs-Barriere, C., Bignon, Y-J., Ramus, S., Benitez, J., Caldes, T., Akiyama, Y., Yuasa, Y., Launonen, V., Canal, M. J., Rodriguez, R., Capella, G., Peinado, M. A., Borg, Å. & 4 othersAaltonen, L. A., Ponder, B. A., Baylin, S. B. & Herman, J. G., 2001, In : Human Molecular Genetics. 10, 26, p. 3001-3007

    Research output: Contribution to journalArticle

  8. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration

    Åsa Petersén, Larsen, K. E., Behr, G. G., Romero, N., Przedborski, S., Brundin, P. & Sulzer, D., 2001, In : Human Molecular Genetics. 10, 12, p. 1243-1254

    Research output: Contribution to journalArticle

  9. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)

    Panagopoulos, I., Thoas Fioretos, Isaksson, M., Samuelsson, U., Billström, R., Strömbeck, B., Felix Mitelman & Bertil Johansson, 2001, In : Human Molecular Genetics. 10, 4, p. 395-404

    Research output: Contribution to journalArticle

  10. The mutational spectrum of human malignant autosomal recessive osteopetrosis

    Sobacchi, C., Frattini, A., Orchard, P., Porras, O., Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I., Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I., Etzioni, A., Fasth, A., Fisher, A., Gerritsen, B., Gulino, V., Horwitz, E., Klamroth, V., Lanino, E. & 13 othersMirolo, M., Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, LD., Ochs, HD., Furga, AS., Valiaho, J., van Hove, JLK., Mauno Vihinen, Vujic, D., Vezzoni, P. & Villa, A., 2001, In : Human Molecular Genetics. 10, 17, p. 1767-1773

    Research output: Contribution to journalArticle

  11. X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

    Sudbrak, R., Wieczorek, G., Nuber, U., Mann, W., Kirchner, R., Erdogan, F., Brown, C. J., Wohrle, D., Sterk, P., Kalscheuer, V. M., Berger, W., Lehrach, H. & Ropers, H-H., 2001, In : Human Molecular Genetics. 10, 1, p. 77-83

    Research output: Contribution to journalArticle

  12. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

    J Vallon-Christersson, Cayanan, C., Haraldsson, K., N Loman, Bergthorsson, J. T., Brøndum-Nielsen, K., Gerdes, A. M., Møller, P., U Kristoffersson, Håkan Olsson, Åke Borg & Monteiro, A. N., 2001 Feb 15, In : Human Molecular Genetics. 10, 4, p. 353-60 8 p.

    Research output: Contribution to journalArticle

  13. 2002
  14. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

    Buckley, P. G., Mantripragada, K. K., Benetkiewicz, M., Tapia-Páez, I., Diaz De Ståhl, T., Rosenquist, M., Ali, H., Jarbo, C., De Bustos, C., Hirvelä, C., Sinder Wilén, B., Fransson, I., Thyr, C., Johnsson, B-I., Bruder, C. E. G., Menzel, U., Hergersberg, M., Mandahl, N., Blennow, E., Wedell, A. & 11 othersBeare, D. M., Collins, J. E., Dunham, I., Albertson, D., Pinkel, D., Bastian, B. C., Faruqi, A. F., Lasken, R. S., Ichimura, K., Collins, V. P. & Dumanski, J. P., 2002, In : Human Molecular Genetics. 11, 25, p. 3221-3229

    Research output: Contribution to journalArticle

  15. Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease.

    Lotharius, J. & Brundin, P., 2002, In : Human Molecular Genetics. 11, 20, p. 2395-2407

    Research output: Contribution to journalReview article

  16. 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

    Research output: Contribution to journalArticle

  17. 2003
  18. A genome wide scan for early onset primary hypertension in Scandinavians.

    von Wowern, F., Kristina Bengtsson Boström, Lindgren, C., Marju Orho-Melander, Fyhrquist, F., Lindblad, U., Lennart Råstam, Forsblom, C., Kanninen, T., Almgren, P., Burri, P., Katzman, P., Leif Groop, Hulthén, U. L. & Olle Melander, 2003, In : Human Molecular Genetics. 12, 16, p. 2077-2081

    Research output: Contribution to journalArticle

  19. A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes.

    Demenais, F., Kanninen, T., Lindgren, C., Wiltshire, S., Gaget, S., Dandrieux, C., Almgren, P., Marketa Sjögren, Hattersley, A., Dina, C., Tuomi, T., McCarthy, M. I., Froguel, P. & Leif Groop, 2003, In : Human Molecular Genetics. 12, 15, p. 1865-1873

    Research output: Contribution to journalArticle

  20. Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease

    Bomprezzi, R., Markus Ringnér, Kim, S., Bittner, ML., Khan, J., Chen, YD., Elkahloun, A., Yu, AM., Bielekova, B., Meltzer, PS., Martin, R., McFarland, HF. & Trent, JM., 2003, In : Human Molecular Genetics. 12, 17, p. 2191-2199

    Research output: Contribution to journalArticle

  21. 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

  22. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma

    Storlazzi, T., Fredrik Mertens, Nascimento, A., Isaksson, M., Wejde, J., Brosjo, O., Nils Mandahl & Panagopoulos, I., 2003 Sep 15, In : Human Molecular Genetics. 12, 18, p. 2349-2358 10 p.

    Research output: Contribution to journalArticle

  23. 2004
  24. Laminin {alpha}1 chain reduces muscular dystrophy in laminin {alpha}2 chain deficient mice.

    Kinga Gawlik, Miyagoe-Suzuki, Y., Ekblom, P., Takeda, S. & Madeleine Durbeej-Hjalt, 2004, In : Human Molecular Genetics. 13, 16, p. 1775-1784

    Research output: Contribution to journalArticle

  25. Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3.

    Koivukoski, L., Fisher, S. A., Kanninen, T., Lewis, C. M., Wowern, F., Hunt, S., Kardia, S. L. R., Levy, D., Perola, M., Rankinen, T., Rao, D. C., Rice, T., Thiel, B. A. & Olle Melander, 2004, In : Human Molecular Genetics. 13, 19, p. 2325-2332

    Research output: Contribution to journalArticle

  26. 2005
  27. 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

  28. Orexin loss in Huntington's disease.

    Åsa Petersén, Gil, J., Maat-Schieman, M. L. C., Maria Björkqvist, Tanila, H., Araújo, I. M., Ruben Smith, Popovic, N., Nils Wierup, Norlén, P., Jia-Yi Li, Roos, R. A., Sundler, F., Hindrik Mulder & Brundin, P., 2005, In : Human Molecular Genetics. 14, 1, p. 39-47

    Research output: Contribution to journalArticle

  29. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

    Nuber, U., Kriaucionis, S., Roloff, T. C., Guy, J., Selfridge, J., Steinhoff, C., Schulz, R., Lipkowitz, B., Ropers, H. H., Holmes, M. C. & Bird, A., 2005, In : Human Molecular Genetics. 14, 15, p. 2247-2256

    Research output: Contribution to journalArticle

  30. Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22

    Parsons, C. A., Mroczkowski, H. J., Fiona E A McGuigan, Albagha, O. M. E., Manolagas, S., Reid, D. M., Ralston, S. H. & Shmookler Reis, R. J., 2005 Nov 1, In : Human Molecular Genetics. 14, 21, p. 3141-8 8 p.

    Research output: Contribution to journalArticle

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