Tutto DSpace

Sfoglia per Soggetto "copy number variation"

Items 1-9 di 9

    • 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 ...

    • Achilles, a new family of transcriptionally active retrotransposons from the olive fruit fly, with y chromosome preferential distribution 

      Tsoumani K.T., Drosopoulou E., Bourtzis K., Gariou-Papalexiou A., Mavragani-Tsipidou P., Zacharopoulou A., Mathiopoulos K.D. (2015)
      Sex chromosomes have many unusual features relative to autosomes. The in depth exploration of their structure will improve our understanding of their origin and divergence (degeneration) as well as the evolution of genetic ...

    • AMY1 diploid copy number among end-stage renal disease patients 

      Grammatikopoulou M.G., Gkiouras K., Markaki A.G., Gkouskou K.K., Aivaliotis M., Stylianou K., Bogdanos D.P. (2020)
      Purpose: The salivary amylase gene (AMY1) copy number variation (CNV) is increased as a human adaptation to starch-enriched nutritional patterns. The purpose of this study was to evaluate the relationship between AMY1 CNV, ...

    • Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report 

      Orru S., Papoulidis I., Siomou E., Papadimitriou D.T., Sotiriou S., Nikolaidis P., Eleftheriades M., Papanikolaou E., Thomaidis L., Manolakos E. (2019)
      In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ...

    • Hypoxia-Inducible Factor-2-Altered Urothelial Carcinoma: Clinical and Genomic Features 

      Vlachostergios P.J., Tamposis I.A., Anagnostou M., Papathanassiou M., Mitrakas L., Zachos I., Thodou E., Samara M., Tzortzis V. (2022)
      Background: Hypoxia is recognized as a key feature of cancer growth and is involved in various cellular processes, including proliferation, angiogenesis, and immune surveillance. Besides hypoxia-inducible factor 1-alpha ...

    • Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine 

      Germenis A.E., Rijavec M., Veronez C.L. (2021)
      Biochemical studies performed during the last decades resulted in the development of various innovative medicinal products for hereditary angioedema (HAE). These therapeutic agents target the production or the function of ...

    • Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer 

      Strakova A., Nicholls T.J., Baez-Ortega A., Ní Leathlobhair M., Sampson A.T., Hughes K., Bolton I.A.G., Gori K., Wang J., Airikkala-Otter I., Allen J.L., Allum K.M., Arnold C.L., Bansse-Issa L., Bhutia T.N., Bisson J.L., Blank K., Briceño C., Castillo Domracheva A., Corrigan A.M., Cran H.R., Crawford J.T., Cutter S.M., Davis E., de Castro K.F., De Nardi A.B., de Vos A.P., Delgadillo Keenan L., Donelan E.M., Espinoza Huerta A.R., Faramade I.A., Fazil M., Fotopoulou E., Fruean S.N., Gallardo-Arrieta F., Glebova O., Gouletsou P.G., Häfelin Manrique R.F., Henriques J.J.G.P., Horta R.S., Ignatenko N., Kane Y., King C., Koenig D., Krupa A., Kruzeniski S.J., Lanza-Perea M., Lazyan M., Lopez Quintana A.M., Losfelt T., Marino G., Martínez Castañeda S., Martínez-López M.F., Masuruli B.M., Meyer M., Migneco E.J., Nakanwagi B., Neal K.B., Neunzig W., Nixon S.J., Ortega-Pacheco A., Pedraza-Ordoñez F., Peleteiro M.C., Polak K., Pye R.J., Ramirez-Ante J.C., Reece J.F., Rojas Gutierrez J., Sadia H., Schmeling S.K., Shamanova O., Sherlock A.G., Steenland-Smit A.E., Svitich A., Tapia Martínez L.J., Thoya Ngoka I., Torres C.G., Tudor E.M., van der Wel M.G., Vițălaru B.A., Vural S.A., Walkinton O., Wehrle-Martinez A.S., Widdowson S.A.E., Zvarich I., Chinnery P.F., Falkenberg M., Gustafsson C.M., Murchison E.P. (2020)
      Autonomous replication and segregation of mitochondrial DNA (mtDNA) creates the potential for evolutionary conflict driven by emergence of haplotypes under positive selection for ‘selfish’ traits, such as replicative ...

    • 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 ...

    • Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency 

      Loules G., Zamanakou M., Parsopoulou F., Vatsiou S., Psarros F., Csuka D., Porebski G., Obtulowicz K., Valerieva A., Staevska M., López-Lera A., López-Trascasa M., Moldovan D., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2018)
      SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection ...