Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction
| dc.contributor.author | Syrrou, M. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Patsalis, P. C. | en |
| dc.contributor.author | Bouba, I. | en |
| dc.contributor.author | Adonakis, G. | en |
| dc.contributor.author | Pagoulatos, G. N. | en |
| dc.date.accessioned | 2015-11-24T19:15:23Z | |
| dc.date.available | 2015-11-24T19:15:23Z | |
| dc.identifier.issn | 0148-7299 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/21505 | |
| dc.rights | Default Licence | - |
| dc.subject | Adult | en |
| dc.subject | Alleles | en |
| dc.subject | Female | en |
| dc.subject | Fragile X Syndrome/*genetics | en |
| dc.subject | Humans | en |
| dc.subject | Mutation/*genetics | en |
| dc.subject | Ovarian Diseases/*genetics | en |
| dc.subject | Polymorphism, Genetic/*genetics | en |
| dc.subject | Receptors, Estrogen/*genetics | en |
| dc.title | Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction | en |
| heal.abstract | We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). FRAXA premutation was found in one woman with familial POF. A significant association of familial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed. Our preliminary data suggest a potential role of the estrogen receptor in POF, and it may influence the variable age of menopause of the FRAXA premutation carriers. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/10331614 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1002/(SICI)1096-8628(19990528)84:3<306::AID-AJMG29>3.0.CO;2-I/asset/29_ftp.pdf?v=1&t=h0diqaj4&s=6fc8c387654579863384bdc92c7a30b9c6669519 | - |
| heal.journalName | Am J Med Genet | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 1999 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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