Now showing items 1-11 of 11

  • Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach 

    Silveira, A. C.; Morrison, M. A.; Ji, F.; Xu, H.; Reinecke, J. B.; Adams, S. M.; Arneberg, T. M.; Janssian, M.; Lee, J. E.; Yuan, Y.; Schaumberg, D. A.; Kotoula, M. G.; Tsironi, E. E.; Tsiloulis, A. N.; Chatzoulis, D. Z.; Miller, J. W.; Kim, I. K.; Hageman, G. S.; Farrer, L. A.; Haider, N. B.; DeAngelis, M. M. (2010)
    To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). ...
  • A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22 

    Kerkhof, H. J. M.; Lories, R. J.; Meulenbelt, I.; Jonsdottir, I.; Valdes, A. M.; Arp, P.; Ingvarsson, T.; Jhamai, M.; Jonsson, H.; Stolk, L.; Thorleifsson, G.; Zhai, G.; Zhang, F.; Zhu, Y.; Van Der Breggen, R.; Carr, A.; Doherty, M.; Doherty, S.; Felson, D. T.; Gonzalez, A.; Halldorsson, B. V.; Hart, D. J.; Hauksson, V. B.; Hofman, A.; Ioannidis, J. P. A.; Kloppenburg, M.; Lane, N. E.; Loughlin, J.; Luyten, F. P.; Nevitt, M. C.; Parimi, N.; Pols, H. A. P.; Rivadeneira, F.; Slagboom, E. P.; Styrḱarsd́ottir, U.; Tsezou, A.; Van De Putte, T.; Zmuda, J.; Spector, T. D.; Stefansson, K.; Uitterlinden, A. G.; Van Meurs, J. B. J. (2010)
    Objective. To identify novel genes involved in osteoarthritis (OA), by means of a genome-wide association study. Methods. We tested 500,510 single-nucleotide polymorphisms (SNPs) in 1,341 Dutch Caucasian OA cases and 3,496 ...
  • Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases 

    Hadzidimitriou, A.; Stamatopoulos, K.; Belessi, C.; Lalayianni, C.; Stavroyianni, N.; Smilevska, T.; Hatzi, K.; Laoutaris, N.; Anagnostopoulos, A.; Kollia, P.; Fassas, A. (2006)
    Background and Objectives. The available data on the immunoglobulin gene (IG) repertoire in multiple myeloma (MM) derive mainly from heavy chains; considerably less is known about light chains. We assessed in parallel IGH ...
  • Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations 

    Meulenbelt, I.; Chapman, K.; Dieguez-Gonzalez, R.; Shi, D.; Tsezou, A.; Dai, J.; Malizos, K. N.; Kloppenburg, M.; Carr, A.; Nakajima, M.; van der Breggen, R.; Lakenberg, N.; Gomez-Reino, J. J.; Jiang, Q.; Ikegawa, S.; Gonzalez, A.; Loughlin, J.; Slagboom, E. P. (2009)
    Recently, through a genome wide association study in Japanese knee osteoarthritis (OA) cases, a previously unknown gene, DVWA, was identified. The non-synonymous single nucleotide polymorphism (SNP) rs7639618 was subsequently ...
  • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

    Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)
    Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...
  • Loss of heterozygosity in DNA mismatch repair genes in human atherosclerotic plaques 

    Flouris, G. A.; Arvanitis, D. A.; Parissis, J. T.; Arvanitis, D. L.; Spandidos, D. A. (2001)
    To detect the incidence of loss of heterozygosity (LOH) in DNA mismatch repair genes (MMR) occurring in atherosclerosis, fifty human autopsy cases of atherosclerosis were examined for LOH using 19 microsatellite markers, ...
  • MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease 

    Schormair, B.; Plag, J.; Kaffe, M.; Groß, N.; Czamara, D.; Samtleben, W.; Lichtner, P.; Ströhle, A.; Stefanidis, I.; Vainas, A.; Dardiotis, E.; Sakkas, G. K.; Gieger, C.; Müller-Myhsok, B.; Meitinger, T.; Heemann, U.; Hadjigeorgiou, G. M.; Oexle, K.; Winkelmann, J. (2011)
    Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...
  • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 

    Evangelou, E.; Valdes, A. M.; Kerkhof, H. J. M.; Styrkarsdottir, U.; Zhu, Y.; Meulenbelt, I.; Lories, R. J.; Karassa, F. B.; Tylzanowski, P.; Bos, S. D.; Rayner, N. W.; Southam, L.; Zhai, G.; Elliott, K. S.; Hunt, S. E.; Blackburn, H.; Potter, S. C.; Day-Williams, A. G.; Beazley, C.; Akune, T.; Arden, N. K.; Carr, A.; Chapman, K.; Cupples, L. A.; Dai, J.; Deloukas, P.; Doherty, M.; Doherty, S.; Engstrom, G.; Gonzalez, A.; Halldorsson, B. V.; Hammond, C. L.; Hart, D. J.; Helgadottir, H.; Hofman, A.; Ikegawa, S.; Ingvarsson, T.; Jiang, Q.; Jonsson, H.; Kaprio, J.; Kawaguchi, H.; Kisand, K.; Kloppenburg, M.; Kujala, U. M.; Lohmander, L. S.; Loughlin, J.; Luyten, F. P.; Mabuchi, A.; McCaskie, A.; Nakajima, M.; Nilsson, P. M.; Nishida, N.; Ollier, W. E. R.; Panoutsopoulou, K.; Van De Putte, T.; Ralston, S. H.; Rivadeneira, F.; Saarela, J.; Schulte-Merker, S.; Shi, D.; Slagboom, P. E.; Sudo, A.; Tamm, A.; Thorleifsson, G.; Thorsteinsdottir, U.; Tsezou, A.; Wallis, G. A.; Wilkinson, J. M.; Yoshimura, N.; Zeggini, E.; Zhang, F.; Jonsdottir, I.; Uitterlinden, A. G.; Felson, D. T.; Van Meurs, J. B.; Stefansson, K.; Ioannidis, J. P. A.; Spector, T. D. (2011)
    Objectives: Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including ...
  • Molecular typing of Brucella melitensis endemic strains and differentiation from the vaccine strain Rev-1 

    Noutsios, G. T.; Papi, R. M.; Ekateriniadou, L. V.; Minas, A.; Kyriakidis, D. A. (2012)
    In the present study forty-four Greek endemic strains of Br. melitensis and three reference strains were genotyped by Multi locus Variable Number Tandem Repeat (ML-VNTR) analysis based on an eight-base pair tandem repeat ...
  • Seven new loci associated with age-related macular degeneration 

    Fritsche, L. G.; Chen, W.; Schu, M.; Yaspan, B. L.; Yu, Y.; Thorleifsson, G.; Zack, D. J.; Arakawa, S.; Cipriani, V.; Ripke, S.; Igo, R. P.; Buitendijk, G. H. S.; Sim, X.; Weeks, D. E.; Guymer, R. H.; Merriam, J. E.; Francis, P. J.; Hannum, G.; Agarwal, A.; Armbrecht, A. M.; Audo, I.; Aung, T.; Barile, G. R.; Benchaboune, M.; Bird, A. C.; Bishop, P. N.; Branham, K. E.; Brooks, M.; Brucker, A. J.; Cade, W. H.; Cain, M. S.; Campochiaro, P. A.; Chan, C. C.; Cheng, C. Y.; Chew, E. Y.; Chin, K. A.; Chowers, I.; Clayton, D. G.; Cojocaru, R.; Conley, Y. P.; Cornes, B. K.; Daly, M. J.; Dhillon, B.; Edwards, A. O.; Evangelou, E.; Fagerness, J.; Ferreyra, H. A.; Friedman, J. S.; Geirsdottir, A.; George, R. J.; Gieger, C.; Gupta, N.; Hagstrom, S. A.; Harding, S. P.; Haritoglou, C.; Heckenlively, J. R.; Holz, F. G.; Hughes, G.; Ioannidis, J. P. A.; Ishibashi, T.; Joseph, P.; Jun, G.; Kamatani, Y.; Katsanis, N.; N Keilhauer, C.; Khan, J. C.; Kim, I. K.; Kiyohara, Y.; Klein, B. E. K.; Klein, R.; Kovach, J. L.; Kozak, I.; Lee, C. J.; Lee, K. E.; Lichtner, P.; Lotery, A. J.; Meitinger, T.; Mitchell, P.; Mohand-Saïd, S.; Moore, A. T.; Morgan, D. J.; Morrison, M. A.; Myers, C. E.; Naj, A. C.; Nakamura, Y.; Okada, Y.; Orlin, A.; Ortube, M. C.; Othman, M. I.; Pappas, C.; Park, K. H.; Pauer, G. J. T.; Peachey, N. S.; Poch, O.; Priya, R. R.; Reynolds, R.; Richardson, A. J.; Ripp, R.; Rudolph, G.; Ryu, E.; Sahel, J. A.; Schaumberg, D. A.; Scholl, H. P. N.; Schwartz, S. G.; Scott, W. K.; Shahid, H.; Sigurdsson, H.; Silvestri, G.; Sivakumaran, T. A.; Smith, R. T.; Sobrin, L.; Souied, E. H.; Stambolian, D. E.; Stefansson, H.; Sturgill-Short, G. M.; Takahashi, A.; Tosakulwong, N.; Truitt, B. J.; Tsironi, E. E.; Uitterlinden, A. G.; Van Duijn, C. M.; Vijaya, L.; Vingerling, J. R.; Vithana, E. N.; Webster, A. R.; Wichmann, H. E.; Winkler, T. W.; Wong, T. Y.; Wright, A. F.; Zelenika, D.; Zhang, M.; Zhao, L.; Zhang, K.; Klein, M. L.; Hageman, G. S.; Lathrop, G. M.; Stefansson, K.; Allikmets, R.; Baird, P. N.; Gorin, M. B.; Wang, J. J.; Klaver, C. C. W.; Seddon, J. M.; Pericak-Vance, M. A.; Iyengar, S. K.; Yates, J. R. W.; Swaroop, A.; Weber, B. H. F.; Kubo, M.; Deangelis, M. M.; Léveillard, T.; Thorsteinsdottir, U.; Haines, J. L.; Farrer, L. A.; Heid, I. M.; Abecasis, G. R. (2013)
    Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association ...
  • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

    Kemlink, D.; Plazzi, G.; Vetrugno, R.; Provini, F.; Polo, O.; Stiasny-Kolster, K.; Oertel, W.; Nevsimalova, S.; Sonka, K.; Högl, B.; Frauscher, B.; Hadjigeorgiou, G. M.; Pramstaller, P. P.; Lichtner, P.; Meitinger, T.; Müller-Myshok, B.; Winkelmann, J.; Montagna, P. (2008)
    Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...