Matches in UGent Biblio for { <https://biblio.ugent.be/publication/1002412#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B216522.
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- aggregation creator person.
- aggregation date "2010".
- aggregation format "application/pdf".
- aggregation hasFormat 1002412.bibtex.
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- aggregation isPartOf urn:issn:0268-1161.
- aggregation language "eng".
- aggregation publisher "Oxford University Press".
- aggregation rights "I have retained and own the full copyright for this publication".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report".
- aggregation abstract "FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated with premature ovarian failure (POF). However, little is known about the molecular mechanisms of FOXL2 actions in the human ovary. We conducted an extensive clinical, hormonal and ovarian histological study in two patients carrying a FOXL2 mutation associated with the typical eyelid malformations and infertility. This observational study was conducted at referral centres for POF. Histological and immunohistological studies were conducted on ovarian biopsies from two women with POF carrying a FOXL2 mutation resulting in putative polyalanine expansions of the protein. Abnormalities similar to those observed in mice with FOXL2 gene inactivation were present in the first patient's ovary, although the ovarian histology of the second patient was apparently normal. Different ovarian phenotypes, follicular defects and distribution of FOXL2 protein were observed in two patients carrying a FOXL2 mutation.".
- aggregation authorList BK478053.
- aggregation endPage "243".
- aggregation issue "1".
- aggregation startPage "235".
- aggregation volume "25".
- aggregation aggregates 1134648.
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