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https://olympias.lib.uoi.gr/jspui/handle/123456789/19728Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Lazaros, L. | en |
| dc.contributor.author | Hatzi, E. | en |
| dc.contributor.author | Bouba, I. | en |
| dc.contributor.author | Makrydimas, G. | en |
| dc.contributor.author | Dalkalitsis, N. | en |
| dc.contributor.author | Stefos, T. | en |
| dc.contributor.author | Paraskevaidis, E. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.date.accessioned | 2015-11-24T19:01:49Z | - |
| dc.date.available | 2015-11-24T19:01:49Z | - |
| dc.identifier.issn | 0301-2115 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19728 | - |
| dc.rights | Default Licence | - |
| dc.subject | Case-Control Studies | en |
| dc.subject | *Chorionic Villi Sampling | en |
| dc.subject | DNA Mutational Analysis | en |
| dc.subject | Female | en |
| dc.subject | Globins/*genetics | en |
| dc.subject | Haplotypes | en |
| dc.subject | Humans | en |
| dc.subject | Male | en |
| dc.subject | Polymorphism, Genetic/*genetics | en |
| dc.subject | Pregnancy | en |
| dc.subject | Pregnancy Trimester, First/*genetics | en |
| dc.subject | Sensitivity and Specificity | en |
| dc.subject | beta-Thalassemia/diagnosis/*genetics | en |
| dc.title | Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous sampling | en |
| heal.type | journalArticle | - |
| heal.type.en | Journal article | en |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.identifier.primary | 10.1016/j.ejogrb.2007.12.019 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/18353524 | - |
| heal.identifier.secondary | http://ac.els-cdn.com/S0301211508000523/1-s2.0-S0301211508000523-main.pdf?_tid=8fd86e2a8a85c8aac3fa5627fcc5e9c8&acdnat=1333455547_b9bb822c215eb5d674cb33d8f9ab4aeb | - |
| heal.language | en | - |
| heal.access | campus | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.publicationDate | 2008 | - |
| heal.abstract | OBJECTIVE: The objective was to evaluate the beta-globin gene mutations and polymorphisms in cell-free fetal DNA in the early first trimester (7-9th weeks' gestation) for the prediction of thalassemia risk at chorionic villous sampling (CVS). STUDY DESIGN: Beta-globin gene mutations and polymorphisms were analyzed in 97 carrier families and 100 control couples. Using conventional PCR-DGGE we carried out cell-free fetal DNA analysis in 37 couples in whom only the father was an IVSI-110 carrier. RESULTS: Beta-globin gene mutations have 80% information content in contrast to 39% of polymorphisms. By non-invasive early first-trimester identification of the paternally transmitted IVSI-110 mutation, we reached a sensitivity and specificity of 96 and 100%, respectively. Although the detection rate of the Y chromosome in male fetuses was as high as 100%, beta-thalassemia allele drop-out cannot be excluded. CONCLUSIONS: Even though there is high sensitivity in non-invasive paternally transmitted beta-thalassemia mutation detection, intense effort must be made to avoid misdiagnoses before the clinical application of this approach. | en |
| heal.journalName | Eur J Obstet Gynecol Reprod Biol | 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 | |
|---|---|---|---|---|
| Lazaros-2008-Non-invasive first-t.pdf | 157.03 kB | Adobe PDF | View/Open Request a copy |
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