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https://olympias.lib.uoi.gr/jspui/handle/123456789/22303Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Van Buggenhout, G. J. | en |
| dc.contributor.author | van Ravenswaaij-Arts, C. | en |
| dc.contributor.author | Mieloo, H. | en |
| dc.contributor.author | Syrrou, M. | en |
| dc.contributor.author | Hamel, B. | en |
| dc.contributor.author | Brunner, H. | en |
| dc.contributor.author | Fryns, J. P. | en |
| dc.date.accessioned | 2015-11-24T19:23:25Z | - |
| dc.date.available | 2015-11-24T19:23:25Z | - |
| dc.identifier.issn | 0003-3995 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/22303 | - |
| dc.rights | Default Licence | - |
| dc.subject | Adolescent | en |
| dc.subject | Adult | en |
| dc.subject | *Chromosome Aberrations | en |
| dc.subject | Female | en |
| dc.subject | Humans | en |
| dc.subject | In Situ Hybridization, Fluorescence | en |
| dc.subject | Intellectual Disability/*genetics/*physiopathology | en |
| dc.subject | Karyotyping | en |
| dc.subject | Male | en |
| dc.subject | Middle Aged | en |
| dc.subject | Phenotype | en |
| dc.subject | Telomere/genetics | en |
| dc.title | Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients | en |
| heal.type | journalArticle | - |
| heal.type.en | Journal article | en |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/11522247 | - |
| heal.identifier.secondary | http://ac.els-cdn.com/S0003399501010449/1-s2.0-S0003399501010449-main.pdf?_tid=34848195338755ee6915b677dcff1dbf&acdnat=1333008412_a25ba874794f9749f91138763f91b5c5 | - |
| heal.language | en | - |
| heal.access | campus | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.publicationDate | 2001 | - |
| heal.abstract | In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications, undetectable with standard banding techniques. In the 13 investigated patients, no abnormalities were found with a selected battery of subtelomeric probes. The results of cryptic chromosomal rearrangement studies are variable but the frequency of positive diagnostic findings seems to be lower than previously expected. | en |
| heal.journalName | Ann Genet | en |
| heal.journalType | peer-reviewed | - |
| heal.fullTextAvailability | TRUE | - |
| Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Van Buggenhout-2001-Dysmorphology and me.pdf | 28.5 kB | Adobe PDF | View/Open Request a copy |
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