Matches in UGent Biblio for { <https://biblio.ugent.be/publication/187468#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B81943.
- aggregation creator B81944.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "1996".
- aggregation hasFormat 187468.bibtex.
- aggregation hasFormat 187468.csv.
- aggregation hasFormat 187468.dc.
- aggregation hasFormat 187468.didl.
- aggregation hasFormat 187468.doc.
- aggregation hasFormat 187468.json.
- aggregation hasFormat 187468.mets.
- aggregation hasFormat 187468.mods.
- aggregation hasFormat 187468.rdf.
- aggregation hasFormat 187468.ris.
- aggregation hasFormat 187468.txt.
- aggregation hasFormat 187468.xls.
- aggregation hasFormat 187468.yaml.
- aggregation isPartOf urn:issn:1018-4813.
- aggregation language "eng".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Refined genetic and physical mapping of BPES type II".
- aggregation abstract "BPES is a genetic disorder including blepharophimosis, ptosis of the eyelids, epicanthus inversus and telecanthus. Type I is associated with female infertility, whereas type II presents without other symptoms, Both types I and II occur sporadically or are inherited as an autosomal dominant trait. We present a molecular genetic and cytogenetic study in a large four-generation Belgian family with BPES type II. Karyotype analysis on high-resolution banded chromosomes yielded normal results. Fluorescence in situ hybridization (FISH) with cosmid probes spanning 3q22-q24 revealed normal hybridization patterns. Sixteen polymorphic CA repeats encompassing region 3q13-q25 were analysed. Linkage analysis in this large four-generation family provides conclusive evidence for the presence of a BPES gene in this region. Two-point lod scores greater than 3.0 between the disease and the following markers were seen: D3S1589 (4.67), D3S1292 (3.52), D3S1290 (3.59) and D3S1549 (3.65). By FISH, D3S1290, D3S1292 and D3S1549 were assigned to chromosome 3q23 using YACs positive for these markers.".
- aggregation authorList BK210801.
- aggregation endPage "38".
- aggregation issue "1".
- aggregation startPage "34".
- aggregation volume "4".
- aggregation isDescribedBy 187468.
- aggregation similarTo LU-187468.