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Parcourir par sujet "chromosome 7q"

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    • 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case 

      Paspaliaris V., Vrachnis N., Iliodromiti Z., Antonakopoulos N., Papaioannou G., Vlachadis N., Anastasiadou F., Sotiriou S., Garas A., Thomaidis L., Manolakos E. (2017)
      Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ...

    • 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 ...

    • Identification of Chromosomal Regions Linked to Autism-Spectrum Disorders: A Meta-Analysis of Genome-Wide Linkage Scans 

      Mpoulimari I., Zintzaras E. (2022)
      Background: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neurodevelopmental disorders with a strong hereditary component. Although, genome-wide linkage scans (GWLS) and ...

    • Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans 

      Tziastoudi M., Stefanidis I., Stravodimos K., Zintzaras E. (2019)
      Aims: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have ...

    • 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 ...