FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population
| dc.contributor.author | Syrrou, M. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Grigoriadou, M. | en |
| dc.contributor.author | Petersen, M. B. | en |
| dc.contributor.author | Kitsiou, S. | en |
| dc.contributor.author | Pagoulatos, G. | en |
| dc.contributor.author | Patsalis, P. C. | en |
| dc.date.accessioned | 2015-11-24T19:15:23Z | |
| dc.date.available | 2015-11-24T19:15:23Z | |
| dc.identifier.issn | 0741-0395 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/21504 | |
| dc.rights | Default Licence | - |
| dc.subject | Adolescent | en |
| dc.subject | Adult | en |
| dc.subject | Child | en |
| dc.subject | Child, Preschool | en |
| dc.subject | Chromosome Mapping | en |
| dc.subject | Cyprus/epidemiology | en |
| dc.subject | Female | en |
| dc.subject | Fragile X Syndrome/*genetics | en |
| dc.subject | Genotype | en |
| dc.subject | Greece/epidemiology | en |
| dc.subject | Humans | en |
| dc.subject | Intellectual Disability/epidemiology/*genetics | en |
| dc.subject | Male | en |
| dc.subject | Mutation | en |
| dc.subject | Pilot Projects | en |
| dc.subject | Prevalence | en |
| dc.subject | Prospective Studies | en |
| dc.subject | *Trinucleotide Repeats | en |
| dc.title | FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population | en |
| heal.abstract | Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by means of cytogenetic and molecular methods of 433 unrelated retarded individuals and their parents of Hellenic origin coming from various parts of Greece and Cyprus. The purpose of the study was to estimate the frequency of FRAXA mutation in individuals with nonspecific mental retardation without family history and phenotypic stigmata in the Hellenic population. Five FRAXA-positive children (1.15%) were identified, of whom four were found to carry a full mutation and one a premutation. Furthermore we present preliminary data on a screening of FRAXE mutation frequency. We screened 257 male patients with nonspecific mental retardation, finding none positive for FRAXE mutation. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1002/(SICI)1098-2272(1998)15:1<103::AID-GEPI8>3.0.CO;2-8 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/9523214 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1002/(SICI)1098-2272(1998)15:1<103::AID-GEPI8>3.0.CO;2-8/asset/8_ftp.pdf?v=1&t=h2d28vmr&s=437235e859e69c34bbeedf71aa55fa83ba54178b | - |
| heal.journalName | Genet Epidemiol | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 1998 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
Αρχεία
Φάκελος/Πακέτο αδειών
1 - 1 of 1
Φόρτωση...
- Ονομα:
- license.txt
- Μέγεθος:
- 1.74 KB
- Μορφότυπο:
- Item-specific license agreed upon to submission
- Περιγραφή: