Please use this identifier to cite or link to this item:
https://olympias.lib.uoi.gr/jspui/handle/123456789/19915
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tzoufi, M. | en |
dc.contributor.author | Kanioglou, C. | en |
dc.contributor.author | Dasoula, A. | en |
dc.contributor.author | Asproudis, I. | en |
dc.contributor.author | Tsatsoulis, A. | en |
dc.contributor.author | Sismani, C. | en |
dc.contributor.author | Patsalis, P. C. | en |
dc.contributor.author | Georgiou, I. | en |
dc.contributor.author | Syrrou, M. | en |
dc.date.accessioned | 2015-11-24T19:03:35Z | - |
dc.date.available | 2015-11-24T19:03:35Z | - |
dc.identifier.issn | 0883-0738 | - |
dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19915 | - |
dc.rights | Default Licence | - |
dc.subject | Abnormalities, Multiple/genetics | en |
dc.subject | Adolescent | en |
dc.subject | Adult | en |
dc.subject | Child | en |
dc.subject | Child, Preschool | en |
dc.subject | *Chromosomes, Human, Pair 14 | en |
dc.subject | Diabetes Mellitus, Type 2/complications/genetics | en |
dc.subject | Epilepsy/complications/*genetics | en |
dc.subject | Humans | en |
dc.subject | Intellectual Disability/complications/*genetics | en |
dc.subject | Male | en |
dc.subject | *Mosaicism | en |
dc.subject | Phenotype | en |
dc.subject | *Ring Chromosomes | en |
dc.subject | Trisomy/*genetics | en |
dc.title | Mosaic trisomy r(14) associated with epilepsy and mental retardation | en |
heal.type | journalArticle | - |
heal.type.en | Journal article | en |
heal.type.el | Άρθρο Περιοδικού | el |
heal.identifier.primary | 10.1177/0883073807304196 | - |
heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/17715281 | - |
heal.identifier.secondary | http://jcn.sagepub.com/content/22/7/869.full.pdf | - |
heal.language | en | - |
heal.access | campus | - |
heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
heal.publicationDate | 2007 | - |
heal.abstract | We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome. | en |
heal.journalName | J Child Neurol | 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 | |
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Tzoufi-2007-Mosaic trisomy r(14).pdf | 235.13 kB | Adobe PDF | View/Open Request a copy |
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