Zobrazeno 1 - 10
of 165
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fded8352ba28dfdab6c62981d92fe3ce
https://pubmed.ncbi.nlm.nih.gov/26777411
https://pubmed.ncbi.nlm.nih.gov/26777411
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3262125ab8589e915525aea82fd9e878
https://doi.org/10.1007/bf02532531
https://doi.org/10.1007/bf02532531
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2df833844aec7aa2a5279165699b78a
https://pubmed.ncbi.nlm.nih.gov/22570644
https://pubmed.ncbi.nlm.nih.gov/22570644
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::041ca0765bea5a0f475c642e425eb375
https://pubmed.ncbi.nlm.nih.gov/20420030
https://pubmed.ncbi.nlm.nih.gov/20420030
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::712beaf7c3d9566fe9b982cacdec9a57
https://pubmed.ncbi.nlm.nih.gov/20810036
https://pubmed.ncbi.nlm.nih.gov/20810036
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::646d3085ee0ff2c7243a49c235bf1e89
https://pubmed.ncbi.nlm.nih.gov/18712171
https://pubmed.ncbi.nlm.nih.gov/18712171
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ab1c2b452d416e3f7e16736c3a1567d
https://pubmed.ncbi.nlm.nih.gov/17100205
https://pubmed.ncbi.nlm.nih.gov/17100205