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https://olympias.lib.uoi.gr/jspui/handle/123456789/24343Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Sismani, C. | en |
| dc.contributor.author | Syrrou, M. | en |
| dc.contributor.author | Christodoulou, K. | en |
| dc.contributor.author | Hamel, B. | en |
| dc.contributor.author | Chelly, J. | en |
| dc.contributor.author | Yntema, H. G. | en |
| dc.contributor.author | van Bokhoven, H. | en |
| dc.contributor.author | Tzoufi, M. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Patsalis, P. C. | en |
| dc.date.accessioned | 2015-11-24T19:40:22Z | - |
| dc.date.available | 2015-11-24T19:40:22Z | - |
| dc.identifier.issn | 1552-4825 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/24343 | - |
| dc.rights | Default Licence | - |
| dc.subject | Chromosome Mapping | en |
| dc.subject | *Chromosomes, Human, X | en |
| dc.subject | Cytogenetic Analysis | en |
| dc.subject | DNA Mutational Analysis | en |
| dc.subject | Female | en |
| dc.subject | Humans | en |
| dc.subject | Male | en |
| dc.subject | Mental Retardation, X-Linked/*genetics/physiopathology | en |
| dc.subject | Pedigree | en |
| dc.title | A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33 | en |
| heal.type | journalArticle | - |
| heal.type.en | Journal article | en |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.identifier.primary | 10.1002/ajmg.a.20284 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/12949971 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.20284/asset/20284_ftp.pdf?v=1&t=h0bwvaxu&s=3f9ba6d47217cf5ab084269e2d303c2a6eb496dc | - |
| heal.language | en | - |
| heal.access | campus | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.publicationDate | 2003 | - |
| heal.abstract | Nonsyndromic X-linked mental retardation (MRX) is a highly heterogeneous condition in which mental retardation appears to be the only consistent manifestation. According to the most recent data, 77 MRX families with a lod score of >2 have been mapped and eight genes have been cloned. We hereby report on a linkage analysis performed on a Greek family with apparently nonsyndromic MRX. The affected males have moderate to severe mental retardation, severe speech problems, and aggressive behavior. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 27 Mb interval in Xq12-Xq21.33. The maximum LOD score was found for markers DXS1225, DXS8114, and DXS990 at 2.36, 2.06, 2.06, respectively at theta = 0.00. Recombination was observed for DXS983 at the proximal side and DXS6799 at the distal side. Nineteen other MRX families have been described with a partial overlapping disease gene interval in proximal Xq. No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR-X. These data indicate that the Xq12-Xq21.33 interval contains at least one additional MRX gene. | en |
| heal.journalName | Am J Med Genet A | 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 | |
|---|---|---|---|---|
| Sismani-2003-A gene for nonsyndro.pdf | 132.4 kB | Adobe PDF | View/Open Request a copy |
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