Human Molecular Genetics, 0964-6906

Tidskrift

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  1. 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, I : Human Molecular Genetics. 10, 1, s. 77-83

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  2. 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, I : Human Molecular Genetics. 24, 18, s. 5069-5078

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 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, I : Human Molecular Genetics. 14, 15, s. 2247-2256

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1α

    Hyrskyluoto, A., Bruelle, C., Hult Lundh, S., Do, H. T., Kivinen, J., Rappou, E., Reijonen, S., Waltimo, T., Åsa Petersén, Lindholm, D. & Korhonen, L., 2014, I : Human Molecular Genetics. 23, 22, s. 5928-5939

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. 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 andra, Hall, J. L., 2009, I : Human Molecular Genetics. 18, 20, s. 3795-3804

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 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 andra, Leif Groop, Thorleifsson, G., Steinthorsdottir, V., Stefansson, K., Balkau, B., Froguel, P. & Meyre, D., 2009, I : Human Molecular Genetics. 18, 13, s. 2495-2501

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  7. 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 andra, Scorza, R., van Laar, J., Gonzalez-Escribano, M. F., Nelson, J. L., Radstake, T. R. D. J. & Martin, J., 2009, I : Human Molecular Genetics. 18, 11, s. 2071-2077

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient {beta}-cell mass and exocytosis.

    Maria Björkqvist, Malin Fex, Erik Renström, Nils Wierup, Åsa Petersén, Gil, J., Karl Bacos, Popovic, N., Jia-Yi Li, Sundler, F., Brundin, P. & Hindrik Mulder, 2005, I : Human Molecular Genetics. 14, 5, s. 565-574

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. 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, I : Human Molecular Genetics. 18, 21, s. 4081-4088

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  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 andra, Mirolo, 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, I : Human Molecular Genetics. 10, 17, s. 1767-1773

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.

    Kajsa Paulsson, Haferlach, C., Fonatsch, C., Hagemeijer, A., Klarskov Andersen, M., Slovak, M. L. & Bertil Johansson, 2010, I : Human Molecular Genetics. 19, s. 1507-1514

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. The DNA methylome of pediatric acute lymphoblastic leukemia.

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias

    Henrik Lilljebjörn, Soneson, C., Anna Andersson, Heldrup, J., Behrendtz, M., Kawamata, N., Ogawa, S., Koeffler, H. P., Felix Mitelman, Bertil Johansson, Fontes, M. & Thoas Fioretos, 2010, I : Human Molecular Genetics. 19, 16, s. 3150-3158

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. TCF7L2 is a master regulator of insulin production and processing.

    Zhou, Y., Park, S-Y., Su, J., Bailey, K., Ottosson Laakso, E., Shcherbina, L., Nikolay Oskolkov, Enming Zhang, Thevenin, T., Fadista, J., Bennet, H., Petter Vikman, Nils Wierup, Malin Fex, Rung, J., Claes Wollheim, Nobrega, M., Erik Renström, Leif Groop & Ola Hansson, 2014, I : Human Molecular Genetics. 23, 24, s. 6419-6431

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.

    Zhou, Y., Enming Zhang, Berggreen, C., Jing, X., Osmark, P., Stefan Lang, Corrado Cilio, Olga Göransson, Leif Groop, Erik Renström & Ola Hansson, 2012, I : Human Molecular Genetics. 21, s. 196-207

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 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, I : Human Molecular Genetics. 17, 3, s. 413-418

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 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, I : Human Molecular Genetics. 17, 17, s. 2595-2609

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system

    Xilouri, M., Kyratzi, E., Pitychoutis, P. M., Papadopoulou-Daifoti, Z., Perier, C., Vila, M., Maniati, M., Ulusoy, A., Deniz Kirik, Park, D. S., Wada, K. & Stefanis, L., 2012, I : Human Molecular Genetics. 21, 4, s. 874-889

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin

    Marshall, J. L., Oh, J., Chou, E., Lee, J. A., Johan Holmberg, Burkin, D. J. & Crosbie-Watson, R. H., 2014, I : Human Molecular Genetics. 24, 7, s. 2011-2022 ddu615.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. Role of WT1-ZNF224 interaction in the expression of apoptosis-regulating genes

    Montano, G., Cesaro, E., Fattore, L., Karina Vidovic, Palladino, C., Crescitelli, R., Izzo, P., Turco, M. C. & Costanzo, P., 2013, I : Human Molecular Genetics. 22, 9, s. 1771-1782

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.

    Vemula, S. R., Andreas Puschmann, Xiao, J., Rudzinska, M., Frei, K. P., Truong, D. D., Wszolek, Z. K. & LeDoux, M. S., 2013, I : Human Molecular Genetics. 22, 12, s. 2510-2519

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. 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, I : Human Molecular Genetics. 24, 3, s. 875-90 16 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 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, I : Human Molecular Genetics. 16, 17, s. 2072-2088

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. 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 maj 1, I : Human Molecular Genetics. 26, 9, s. 1678-1693 16 s., ddx074.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. Proteasome Inhibition Improves the Muscle of Laminin {alpha}2 Chain Deficient Mice.

    Carmignac, V., Quere, R. & Madeleine Durbeej-Hjalt, 2011, I : Human Molecular Genetics. 20, 3, s. 541-552

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 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, I : Human Molecular Genetics. 15, 10, s. 1713-1721

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. Phenotype mining in CNV carriers from a population cohort

    Pietiläinen, O. P. H., Rehnström, K., Jakkula, E., Service, S. K., Congdon, E., Carola Tilgmann, Hartikainen, A. L., Taanila, A., Heikura, U., Paunio, T., Ripatti, S., Jarvelin, M. R., Isohanni, M., Sabatti, C., Palotie, A., Freimer, N. B. & Peltonen, L., 2011 jul, I : Human Molecular Genetics. 20, 13, s. 2686-2695 10 s., ddr162.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

    Sebastian Braun, Kottwitz, D. & Nuber, U., 2012, I : Human Molecular Genetics. 21, 8, s. 1673-1680

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 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, I : Human Molecular Genetics. 14, 1, s. 39-47

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 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, I : Human Molecular Genetics. 17, 23, s. 3643-3654

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 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, I : Human Molecular Genetics. 18, 8, s. 1482-1488

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 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 andra, Sole, F., Van Roy, N., Bertil Johansson & Rocchi, M., 2006, I : Human Molecular Genetics. 15, 6, s. 933-942

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. 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 andra, Hoyng, 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, I : Human Molecular Genetics. 25, 20, s. 4546-4555 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 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, I : Human Molecular Genetics. 18, 20, s. 3942-3954

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 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, I : Human Molecular Genetics. 13, 19, s. 2325-2332

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.

    Wiesner, D., Sinniger, J., Henriques, A., Dieterlé, S., Müller, H-P., Rasche, V., Ferger, B., Dirrig-Grosch, S., Rana Soylu, Åsa Petersén, Walther, P., Linkus, B., Kassubek, J., Wong, P. C., Ludolph, A. C. & Dupuis, L., 2015, I : Human Molecular Genetics. 24, 8, s. 2228-2240

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 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, I : Human Molecular Genetics. 23, 21, s. 5733-5749

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. Loci influencing blood pressure identified using a cardiovascular gene-centric array

    Ganesh, S. K., Tragante, V., Guo, W., Guo, Y., Lanktree, M. B., Smith, E. N., Johnson, T., Castillo, B. A., Barnard, J., Baumert, J., Chang, Y-P. C., Elbers, C. C., Farrall, M., Fischer, M. E., Franceschini, N., Gaunt, T. R., Gho, J. M. I. H., Gieger, C., Gong, Y., Isaacs, A. & 116 andra, Kleber, M. E., Leach, I. M., McDonough, C. W., Meijs, M. F. L., Olle Melander, Molony, C. M., Nolte, I. M., Padmanabhan, S., Price, T. S., Rajagopalan, R., Shaffer, J., Shah, S., Shen, H., Soranzo, N., van der Most, P. J., Van Iperen, E. P. A., Van Setten, J. A., Vonk, J. M., Zhang, L., Beitelshees, A. L., Berenson, G. S., Bhatt, D. L., Boer, J. M. A., Boerwinkle, E., Burkley, B., Burt, A., Chakravarti, A., Chen, W., Cooper-DeHoff, R. M., Curtis, S. P., Dreisbach, A., Duggan, D., Ehret, G. B., Fabsitz, R. R., Fornage, M., Fox, E., Furlong, C. E., Gansevoort, R. T., Hofker, M. H., Hovingh, G. K., Kirkland, S. A., Kottke-Marchant, K., Kutlar, A., LaCroix, A. Z., Langaee, T. Y., Li, Y. R., Lin, H., Liu, K., Maiwald, S., Malik, R., Murugesan, G., Newton-Cheh, C., OConnell, J. R., Onland-Moret, N. C., Ouwehand, W. H., Palmas, W., Penninx, B. W., Pepine, C. J., Pettinger, M., Polak, J. F., Ramachandran, V. S., Ranchalis, J., Redline, S., Ridker, P. M., Rose, L. M., Scharnag, H., Schork, N. J., Shimbo, D., Shuldiner, A. R., Srinivasan, S. R., Stolk, R. P., Taylor, H. A., Thorand, B., Trip, M. D., van Duijn, C. M., Verschuren, W. M., Wijmenga, C., Winkelmann, B. R., Wyatt, S., Young, J. H., Boehm, B. O., Caulfield, M. J., Chasman, D. I., Davidson, K. W., Doevendans, P. A., FitzGerald, G. A., Gums, J. G., Hakonarson, H., Hillege, H. L., Illig, T., Jarvik, G. P., Johnson, J. A., Kastelein, J. J. P., Koenig, W., Maerz, W., Mitchell, B. D., Murray, S. S., Oldehinkel, A. J., Rader, D. J., Reilly, M. P., Reiner, A. P., Schadt, E. E., Silverstein, R. L., Snieder, H., Stanton, A. V., Uitterlinden, A. G., van der Harst, P., van der Schouw, Y. T., Samani, N. J., Johnson, A. D., Munroe, P. B., de Bakker, P. I. W., Zhu, X., Levy, D., Keating, B. J. & Asselbergs, F. W., 2013, I : Human Molecular Genetics. 22, 8, s. 1663-1678

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. 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, I : Human Molecular Genetics. 11, 19, s. 2289-95

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. 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, I : Human Molecular Genetics. 13, 16, s. 1775-1784

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. 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, I : Human Molecular Genetics. 14, 21, s. 3141-8 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. 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, I : Human Molecular Genetics. 19, 3, s. 468-479

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. Integrative Genome and Transcriptome Analyses Reveal Two Distinct Types of Ring Chromosome in Soft Tissue Sarcomas.

    Karolin Hansén Nord, Macchia, G., Tayebwa, J., Nilsson, J., Fredrik Vult von Steyern, Brosjö, O., Nils Mandahl & Fredrik Mertens, 2014, I : Human Molecular Genetics. 23, 4, s. 878-888

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  45. 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, I : Human Molecular Genetics. 24, 13, s. 3792-3813

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.

    Taneera, J., Fadista, J., Emma Ahlqvist, Grubich Atac, D., Ottosson Laakso, E., Claes Wollheim & Leif Groop, 2015, I : Human Molecular Genetics. 24, 7, s. 1945-1955

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  47. 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, I : Human Molecular Genetics. 4, 4, s. 693-700

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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