Zobrazeno 1 - 10
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pro vyhledávání: '"H Fryssira"'
Akademický článek
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Autor:
V, Oikonomakis, K, Kosma, A, Mitrakos, C, Sofocleous, P, Pervanidou, A, Syrmou, A, Pampanos, S, Psoni, H, Fryssira, E, Kanavakis, S, Kitsiou-Tzeli, M, Tzetis
Publikováno v:
Clinical genetics. 89(6)
Chromosomal microarray analysis (CMA) is currently considered a first-tier diagnostic assay for the investigation of autism spectrum disorders (ASD), developmental delay and intellectual disability of unknown etiology. High-resolution arrays were uti
Akademický článek
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Publikováno v:
Clinical Genetics: an international journal of genetics in medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44eddc87085d044891aeb37ad8644e0d
https://hdl.handle.net/11858/00-001M-0000-000E-EEEA-011858/00-001M-0000-000E-EC6E-9
https://hdl.handle.net/11858/00-001M-0000-000E-EEEA-011858/00-001M-0000-000E-EC6E-9
Autor:
N. Matsaniotis, H. Fryssira-Kanioura, A. Xipolita-Zachariadi, D. Papathanasiou-Klontza, K. Anastassea-Vlachou
Publikováno v:
European Journal of Pediatrics. 155:1057-1060
To investigate the effects of television (TV) viewing on children, 4876 questionnaires on viewing habits completed by Greek children with the assistance of their parents were analysed. The most important results are summarized below. The mean time sp
Autor:
H, Fryssira, P, Makrythanasis, A, Kattamis, K, Stokidis, B, Menten, K, Kosaki, P, Willems, E, Kanavakis
Publikováno v:
Molecular syndromology. 2(1)
We describe a patient with a rare interstitial deletion of chromosome 7p21.1–p14.3 detected by array-CGH. The deletion encompassed 74 genes and caused haploinsufficiency (or loss of allele) of 6 genes known to be implicated in different autosomal d
Publikováno v:
Genetic counseling (Geneva, Switzerland). 21(1)
Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome. Fluorescent in situ hybridization analysis (FISH), MLPA or multiplex quantitative PCR allow detection of total/partial NSD1
Publikováno v:
Clinical and experimental rheumatology. 28(4)
Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRA
Autor:
C, Sofocleous, S, Kitsiou, H, Fryssira, A, Kolialexi, M, Kalaitzidaki, E, Roma, G Th, Tsangaris, C, Chistofidou, C, Metaxotou, E, Kanavakis, A, Mavrou
Publikováno v:
In vivo (Athens, Greece). 22(4)
Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene. Molecular genetic analysis provides accurate diagnosis and facilitates g
Publikováno v:
Genetic counseling (Geneva, Switzerland). 17(3)
Goldenhar (GS) syndrome is a well-recognised developmental disorder involving first and second branchial arches and characterized by considerable phenotypic variability. The present study presents clinical data on the morphologic features, hearing, o