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https://olympias.lib.uoi.gr/jspui/handle/123456789/19969
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DC Field | Value | Language |
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dc.contributor.author | Tsezou, A. | en |
dc.contributor.author | Kitsiou, S. | en |
dc.contributor.author | Galla, A. | en |
dc.contributor.author | Petersen, M. B. | en |
dc.contributor.author | Karadima, G. | en |
dc.contributor.author | Syrrou, M. | en |
dc.contributor.author | Sahlen, S. | en |
dc.contributor.author | Blennow, E. | en |
dc.date.accessioned | 2015-11-24T19:04:05Z | - |
dc.date.available | 2015-11-24T19:04:05Z | - |
dc.identifier.issn | 0148-7299 | - |
dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19969 | - |
dc.rights | Default Licence | - |
dc.subject | Chromosome Banding | en |
dc.subject | Chromosome Inversion | en |
dc.subject | *Chromosomes, Human, Pair 9 | en |
dc.subject | Developmental Disabilities/*genetics | en |
dc.subject | Face/*abnormalities | en |
dc.subject | *Gene Duplication | en |
dc.subject | Humans | en |
dc.subject | In Situ Hybridization, Fluorescence | en |
dc.subject | Infant | en |
dc.subject | Male | en |
dc.subject | Microsatellite Repeats | en |
dc.subject | Nucleic Acid Hybridization | en |
dc.subject | Polymorphism, Genetic | en |
dc.subject | Sequence Analysis, DNA | en |
dc.title | Molecular cytogenetic characterization and origin of two de novo duplication 9p cases | 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/10748406 | - |
heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1002/(SICI)1096-8628(20000313)91:2<102::AID-AJMG4>3.0.CO;2-5/asset/4_ftp.pdf?v=1&t=h0dip3pe&s=3de8699d7f1de5aff5821cbefae7f8c017240856 | - |
heal.language | en | - |
heal.access | campus | - |
heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
heal.publicationDate | 2000 | - |
heal.abstract | We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct duplication was defined as 9p12 --> p24 by microdissection and microcloning of the aberrant chromosome and subsequent chromosome-specific comparative genomic hybridization. DNA polymorphism analysis with eight microsatellite markers revealed that the origin of the dup(9p) was maternal in the first case, whereas it was paternal in the second. | en |
heal.journalName | Am J Med 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 | |
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Tsezou-2000-Molecular cytogeneti.pdf | 2.06 MB | Adobe PDF | View/Open Request a copy |
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