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

  31. 2006
  32. Cholinergic neuronal defect without cell loss in Huntington's disease.

    Ruben Smith, Chung, H., Rundquist, S., Maat-Schieman, M. L. C., Colgan, L., Elisabet Englund, Liu, Y-J., Roos, R. A. C., Faull, R. L. M., Brundin, P. & Jia-Yi Li, 2006, In : Human Molecular Genetics. 15, 21, p. 3119-3131

    Research output: Contribution to journalArticle

  33. MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene

    Storlazzi, CT., Fioretos, T., Surace, C., Lonoce, A., Mastrorilli, A., Strömbeck, B., D'Addabbo, P., Iacovelli, F., Minervini, C., Aventin, A., Dastugue, N., Fonatsch, C., Hagemeijer, A., Jotterand, M., Muhlematter, D., Lafage-Pochitaloff, M., Nguyen-Khac, F., Schoch, C., Slovak, ML., Smith, A. & 4 othersSole, F., Van Roy, N., Bertil Johansson & Rocchi, M., 2006, In : Human Molecular Genetics. 15, 6, p. 933-942

    Research output: Contribution to journalArticle

  34. Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease

    Maria Björkqvist, Åsa Petersén, Karl Bacos, Isaacs, J., Norlén, P., Gil, J., Popovic, N., Sundler, F., Bates, GP., Tabrizi, SJ., Brundin, P. & Hindrik Mulder, 2006, In : Human Molecular Genetics. 15, 10, p. 1713-1721

    Research output: Contribution to journalArticle

  35. 2007
  36. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

    Pirog-Garcia, K. A., Meadows, R. S., Knowles, L., Heinegård, D., Thornton, D. J., Kadler, K. E., Boot-Handford, R. P. & Briggs, M. D., 2007, In : Human Molecular Genetics. 16, 17, p. 2072-2088

    Research output: Contribution to journalArticle

  37. 2008
  38. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

    Sigurdsson, S., Nordmark, G., Garnier, S., Grundberg, E., Kwan, T., Nilsson, O., Eloranta, M-L., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Bengtsson, A. A., Jonsen, A., Lennart Truedsson, Rantapaa-Dahlqvist, S., Eriksson, C., Alm, G., Goring, H. H. H., Pastinen, T., Syvanen, A-C. & Ronnblom, L., 2008, In : Human Molecular Genetics. 17, 18, p. 2868-2876

    Research output: Contribution to journalArticle

  39. Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

    Sigurdsson, S., Goering, H. H. H., Kristjansdottir, G., Milani, L., Nordmark, G., Sandling, J. K., Eloranta, M-L., Feng, D., Sangster-Guity, N., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Andreas Jönsen, Lennart Truedsson, Barnes, B. J., Alm, G., Roennblom, L. & Syvaenen, A-C., 2008, In : Human Molecular Genetics. 17, 6, p. 872-881

    Research output: Contribution to journalArticle

  40. Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis

    Venugopalan, S. R., Amen, M. A., Wang, J., Wong, L., Cavender, A. C., D'Souza, R. N., Mikael Åkerlund, Brody, S. L., Hjalt, T. & Amendt, B. A., 2008, In : Human Molecular Genetics. 17, 23, p. 3643-3654

    Research output: Contribution to journalArticle

  41. Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males

    Bode, F. J., Stephan, M., Suhling, H., Pabst, R., Straub, R. H., Raber, K. A., Bonin, M., Nguyen, H. P., Riess, O., Bauer, A., Sjöberg, C., Åsa Petersén & von Hoersten, S., 2008, In : Human Molecular Genetics. 17, 17, p. 2595-2609

    Research output: Contribution to journalArticle

  42. Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure

    Cristiano Fava, Montagnana, M., Nilsson, L., Burri, P., Almgren, P., Jonsson, A., Wanby, P., Lippi, G., Minuz, P., Hulthén, L., Aurell, M. & Olle Melander, 2008, In : Human Molecular Genetics. 17, 3, p. 413-418

    Research output: Contribution to journalArticle

  43. 2009
  44. 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

  45. Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs

    Toenjes, A., Koriath, M., Schleinitz, D., Dietrich, K., Boettcher, Y., Rayner, N. W., Almgren, P., Enigk, B., Richter, O., Rohm, S., Fischer-Rosinsky, A., Pfeiffer, A., Hoffmann, K., Krohn, K., Aust, G., Spranger, J., Leif Groop, Blueher, M., Kovacs, P. & Stumvoll, M., 2009, In : Human Molecular Genetics. 18, 23, p. 4662-4668

    Research output: Contribution to journalArticle

  46. Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.

    Ruben Smith, Karl Bacos, Fedele, V., Soulet, D., Jones, H., Obermüller, S., Lindqvist, A., Maria Björkqvist, Klein, P., Patrik Önnerfjord, Brundin, P., Hindrik Mulder & Jia-Yi Li, 2009, In : Human Molecular Genetics. 18, 20, p. 3942-3954

    Research output: Contribution to journalArticle

  47. No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

    Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Berglin-Enquist, I., Stefan Karlsson & Futerman, A. H., 2009, In : Human Molecular Genetics. 18, 8, p. 1482-1488

    Research output: Contribution to journalArticle

  48. The DNA methylome of pediatric acute lymphoblastic leukemia.

    Josef Davidsson, Lilljebjörn, H., Anna Andersson, Srinivas Veerla, Heldrup, J., Behrendtz, M., Thoas Fioretos & Bertil Johansson, 2009, In : Human Molecular Genetics. Aug 13, p. 4054-4065

    Research output: Contribution to journalArticle

  49. The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

    Beer, N. L., Tribble, N. D., McCulloch, L. J., Roos, C., Johnson, P. R. V., Marju Orho-Melander & Gloyn, A. L., 2009, In : Human Molecular Genetics. 18, 21, p. 4081-4088

    Research output: Contribution to journalArticle

  50. 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

  51. The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

    Choquet, H., Cavalcanti-Proenca, C., Lecoeur, C., Dina, C., Cauchi, S., Vaxillaire, M., Hadjadj, S., Horber, F., Potoczna, N., Charpentier, G., Ruiz, J., Hercberg, S., Maimaitiming, S., Roussel, R., Boenhnke, M., Jackson, A. U., Patsch, W., Krempler, F., Voight, B. F., Altshuler, D. & 7 othersLeif Groop, Thorleifsson, G., Steinthorsdottir, V., Stefansson, K., Balkau, B., Froguel, P. & Meyre, D., 2009, In : Human Molecular Genetics. 18, 13, p. 2495-2501

    Research output: Contribution to journalArticle

  52. Tissue-specific alternative splicing of TCF7L2

    Prokunina-Olsson, L., Welch, C., Hansson, O., Adhikari, N., Scott, L. J., Usher, N., Tong, M., Sprau, A., Swift, A., Bonnycastle, L. L., Erdos, M. R., He, Z., Saxena, R., Harmon, B., Kotova, O., Hoffman, E. P., Altshuler, D., Groop, L., Boehnke, M., Collins, F. S. & 1 othersHall, J. L., 2009, In : Human Molecular Genetics. 18, 20, p. 3795-3804

    Research output: Contribution to journalArticle

  53. 2010
  54. 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

  55. Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

    Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Stefan Karlsson & Futerman, A. H., 2010, In : Human Molecular Genetics. 19, 18, p. 3583-3590

    Research output: Contribution to journalArticle

  56. A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons

    Braunstein, K. E., Eschbach, J., Rona-Voeroes, K., Soylu, R., Mikrouli, E., Larmet, Y., Rene, F., De Aguilar, J-L. G., Loeffler, J-P., Mueller, H-P., Bucher, S., Kaulisch, T., Niessen, H. G., Tillmanns, J., Fischer, K., Schwalenstoecker, B., Kassubek, J., Pichler, B., Stiller, D., Petersén, Å. & 2 othersLudolph, A. C. & Dupuis, L., 2010, In : Human Molecular Genetics. 19, 22, p. 4385-4398

    Research output: Contribution to journalArticle

  57. Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

    Perry, J. R. B., Weedon, M. N., Langenberg, C., Jackson, A. U., Lyssenko, V., Sparso, T., Thorleifsson, G., Grallert, H., Ferrucci, L., Maggio, M., Paolisso, G., Walker, M., Palmer, C. N. A., Payne, F., Young, E., Herder, C., Narisu, N., Morken, M. A., Bonnycastle, L. L., Owen, K. R. & 38 othersShields, B., Knight, B., Bennett, A., Groves, C. J., Ruokonen, A., Jarvelin, M. R., Pearson, E., Pascoe, L., Ferrannini, E., Bornstein, S. R., Stringham, H. M., Scott, L. J., Kuusisto, J., Peter Nilsson, Neptin, M., Gjesing, A. P., Pisinger, C., Lauritzen, T., Sandbaek, A., Sampson, M., Magic, E. Z., Lindgren, C. M., Steinthorsdottir, V., Thorsteinsdottir, U., Hansen, T., Schwarz, P., Illig, T., Laakso, M., Stefansson, K., Morris, A. D., Leif Groop, Pedersen, O., Boehnke, M., Barroso, I., Wareham, N. J., Hattersley, A. T., McCarthy, M. I. & Frayling, T. M., 2010, In : Human Molecular Genetics. 19, 3, p. 535-544

    Research output: Contribution to journalArticle

  58. Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells

    Lee, M. Y., Garvey, S. M., Baras, A. S., Lemmon, J. A., Maria Gomez, Bortz, P. D. S., Daum, G., LeBoeuf, R. C. & Wamhoff, B. R., 2010, In : Human Molecular Genetics. 19, 3, p. 468-479

    Research output: Contribution to journalArticle

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