• 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 ...
    • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 

      Salpietro V., Dixon C.L., Guo H., Bello O.D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Männikkö R., Manole A., Brusco A., Grosso E., Ferrero G.B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K.G., Santiago-Sim T., Person R.E., Cho M.T., Willaert R., Yoo Y., Chae J.-H., Quan Y., Wu H., Wang T., Bernier R.A., Xia K., Blesson A., Jain M., Motazacker M.M., Jaeger B., Schneider A.L., Boysen K., Muir A.M., Myers C.T., Gavrilova R.H., Gunderson L., Schultz-Rogers L., Klee E.W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Peñas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M.G., Bugiardini E., Hostettler I., O’Callaghan B., Khan A., Cortese A., O’Connor E., Yau W.Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M.C., Vari M.S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N.T., Zanetti M.N., Krishnakumar S.S., Lignani G., Jepson J.E.C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Pérez-Dueñas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J.S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G.V., Ferrari M.D., Van Den Maagdenberg A.M.J., Verrotti A., Marseglia G.L., Savasta S., Soler M.A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M.C., Ruggieri M., Cama A., Capra V., Mencacci N.E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S.Y., Shaikh F., Koutsis G., Breza M., Coviello D.A., Dauvilliers Y.A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F.S., Kinali M., Sherifa H., Benrhouma H., Turki I.B.Y., Tazir M., Obeid M., Bakhtadze S., Saadi N.W., Zaki M.S., Triki C.C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E.G., Salih A.M., Okubadejo N.U., Ojo O.O., Oshinaike O.O., Oguntunde O., Wahab K., Bello A.H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L.A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J.N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H.C., Scheffer I.E., Clayton-Smith J., Macaya A., Rothman J.E., Eichler E.E., Kullmann D.M., Houlden H., SYNAPS Study Group (2019)
      AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ...
    • Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes 

      Sarri, C.; Douzgou, S.; Gyftodimou, Y.; Tümer, Z.; Ravn, K.; Pasparaki, A.; Sarafidou, T.; Kontos, H.; Kokotas, H.; Karadima, G.; Grigoriadou, M.; Pandelia, E.; Theodorou, V.; Moschonas, N. K.; Petersen, M. B. (2011)
      We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ...
    • Curriculum issues and benefits in supportive co-taught classes for students with intellectual disabilities 

      Strogilos, V.; Tragoulia, E.; Kaila, M. (2015)
      Objectives: The aim of this qualitative study is to identify and evaluate the benefits of supportive co-teaching with regard to the access of students with intellectual disabilities (ID) to the general education curriculum ...
    • Does the number of trials affect the reliability of handgrip strength measurement in individuals with intellectual disabilities? [Le nombre d'essais peut-il affecter la fiabilité de la mesure de la force de poigne chez les personnes ayant une déficience intellectuelle ?] 

      Karatrantou K., Xagorari A., Vasilopoulou T., Gerodimos V. (2020)
      The main objectives of this study were to examine which testing protocol (one/two/three trials) and method (best/average value) used for determining maximal handgrip strength is more reliable for individuals with intellectual ...
    • Down syndrome: Verbal short-term memory from preschool years to old age 

      Katsarou D., Zisi V. (2022)
      Down syndrome is due to a chromosomal abnormality in the 21 pair of chromosomes. The language development of people with Down syndrome is related to the development of their cognitive functions. Although it is not clear ...
    • Experiences of workers with disabilities receiving supported employment services in Greece 

      Vlachou A., Roka O., Stavroussi P. (2021)
      People with disabilities (PwDs) are under-represented in the workforce, especially during times of economic recession. Supported employment is recognized as an effective practice for promoting work inclusion of PwDs, ...
    • Psychometric evaluation of the Rosenberg Self-Esteem Scale in primary school students with mild intellectual disability: First evidence 

      Syropoulou A., Vernadakis N., Papastergiou M., Kourtessis T. (2021)
      Background: Although the Rosenberg Self-Esteem Scale (RSES) is the most widely used measure of self-esteem, the evidential basis to confirm the RSES factor validity and reliability in children with intellectual disabilities ...
    • Quality of life and vocational education service quality in students with intellectual disability 

      Georgiadou I., Vlachou A., Stavroussi P. (2022)
      The aim of the study was to investigate the relation between subjective quality of life and quality of vocational education services from the view of students with intellectual disability who participate in public special ...