Human Molecular Genetics, 0964-6906
Tidskrift
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. 77-83Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 5069-5078Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 2247-2256Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 5928-5939Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, , 2009, I : Human Molecular Genetics. 18, 20, s. 3795-3804Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3
Josef Davidsson, Anna Andersson, Kajsa Paulsson, Heidenblad, M., Isaksson, M., Åke Borg, Heldrup, J., Behrendtz, M., Panagopoulos, I., Thoas Fioretos & Bertil Johansson, 2007, I : Human Molecular Genetics. 16, 18, s. 2215-2225Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, , 2009, I : Human Molecular Genetics. 18, 13, s. 2495-2501Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, , 2009, I : Human Molecular Genetics. 18, 11, s. 2071-2077Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 565-574Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 4081-4088Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, , 2001, I : Human Molecular Genetics. 10, 17, s. 1767-1773Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 1507-1514Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 4054-4065Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 3150-3158Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 6419-6431Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 196-207Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 413-418Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 2595-2609Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 874-889Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 1771-1782Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 2510-2519Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 2072-2088Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 541-552Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 1713-1721Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 1673-1680Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 39-47Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 3643-3654Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 1482-1488Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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, , 2006, I : Human Molecular Genetics. 15, 6, s. 933-942Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, , 2016, I : Human Molecular Genetics. 25, 20, s. 4546-4555 10 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 3942-3954Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 2325-2332Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 2228-2240Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 5733-5749Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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, , 2013, I : Human Molecular Genetics. 22, 8, s. 1663-1678Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 2289-95Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 1775-1784Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 468-479Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 878-888Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 2395-2407Forskningsoutput: Tidskriftsbidrag › Översiktsartikel
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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. 3792-3813Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 1945-1955Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 693-700Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Identification of a commonly amplified 4.3 Mb region with overexpression of the C8FW gene, encoding a phosphoprotein regulated by mitogenic pathways, but not of the MYC gene in MYC-containing double minutes in myeloid malignancies.
Storlazzi, C. T., Thoas Fioretos, Kajsa Paulsson, Strömbeck, B., Lassen, C., Ahlgren, T., Gunnar Juliusson, Felix Mitelman, Rocchi, M. & Bertil Johansson, 2004, I : Human Molecular Genetics. 13, 14, s. 1479-1485Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift