Όλο το DSpace

Πλοήγηση ανά Θέμα "phenotypic variation"

Αποτελέσματα 1-4 από 4

    • 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, ...

    • Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays 

      Michailidou S., Tsangaris G., Fthenakis G.C., Tzora A., Skoufos I., Karkabounas S.C., Banos G., Argiriou A., Arsenos G. (2018)
      In the present study, genome-wide genotyping was applied to characterize the genetic diversity and population structure of three autochthonous Greek breeds: Boutsko, Karagouniko and Chios. Dairy sheep are among the most ...

    • LaGomiCs - Lagomorph Genomics Consortium: An International Collaborative Effort for Sequencing the Genomes of an Entire Mammalian Order 

      Fontanesi L., Di Palma F., Flicek P., Smith A.T., Thulin C.-G., Alves P.C., Abrantes J., Andersson L., Angelone C., Boonstra R., Campos R., Carneiro M., Casadio R., Cervantes F.A., Dahal N., Djan M., Esteves P.J., Etherington G., Fan J., Fickel J., Ge D., Husband T., King T., Kovach A.I., Lavazza A., Letty J., Lissovsky A.A., Mage R., Mamuris Z., Martelli P.L., McGreevy T., Jr., Melo-Ferreira J., Muffato M., Ramakrishnan U., Randi E., Reid N., Ribani A., Robinson T.J., Russello M.A., Schiavo G., Schneider-Gricar V., Solari K.A., Streeter I., Tizzani P., Tur A., Utzeri V.J., Velickovic N., Vernesi C., Yang Q., Lagomorph Genomics Consortium (2016)
      The order Lagomorpha comprises about 90 living species, divided in 2 families: the pikas (Family Ochotonidae), and the rabbits, hares, and jackrabbits (Family Leporidae). Lagomorphs are important economically and scientifically ...

    • Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study 

      Papadimitriou D., Antonelou R., Miligkos M., Maniati M., Papagiannakis N., Bostantjopoulou S., Leonardos A., Koros C., Simitsi A., Papageorgiou S.G., Kapaki E., Alcalay R.N., Papadimitriou A., Athanassiadou A., Stamelou M., Stefanis L. (2016)
      Background: G209A SNCA mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A SNCA mutation carriers. Methods: Longitudinal clinical assessments over 2 years were ...