Publication: CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)
| cris.virtualsource.author-orcid | fee31f3a-7949-4c63-9897-4b69b65cac3c | |
| datacite.rights | open.access | |
| dc.contributor.author | Brockschmidt, Antje | |
| dc.contributor.author | Chung, Boidinh | |
| dc.contributor.author | Weber, Stefanie | |
| dc.contributor.author | Fischer, Dagmar-Christiane | |
| dc.contributor.author | Kolatsi-Joannou, Maria | |
| dc.contributor.author | Christ, Laura | |
| dc.contributor.author | Heimbach, André | |
| dc.contributor.author | Shtiza, Diamant | |
| dc.contributor.author | Klaus, Günter | |
| dc.contributor.author | Simonetti, Giacomo | |
| dc.contributor.author | Konrad, Martin | |
| dc.contributor.author | Winyard, Paul | |
| dc.contributor.author | Haffner, Dieter | |
| dc.contributor.author | Schaefer, Franz | |
| dc.contributor.author | Weber, Ruthild G | |
| dc.date.accessioned | 2024-10-11T09:33:06Z | |
| dc.date.available | 2024-10-11T09:33:06Z | |
| dc.date.issued | 2012 | |
| dc.description.abstract | Recently, we identified a microduplication in chromosomal band 1q21.1 encompassing the CHD1L/ALC1 gene encoding a chromatin-remodelling enzyme in congenital anomalies of the kidneys and urinary tract (CAKUT) patient. | |
| dc.description.note | Brockschmidt, Antje Chung, Boidinh Weber, Stefanie Fischer, Dagmar-Christiane Kolatsi-Joannou, Maria Christ, Laura Heimbach, Andre Shtiza, Diamant Klaus, Guenter Simonetti, Giacomo D. Konrad, Martin Winyard, Paul Haffner, Dieter Schaefer, Franz Weber, Ruthild G. | |
| dc.description.numberOfPages | 10 | |
| dc.description.sponsorship | Universitätsklinik für Kinderheilkunde | |
| dc.identifier.doi | 10.7892/boris.8351 | |
| dc.identifier.isi | 000304832100036 | |
| dc.identifier.pmid | 22146311 | |
| dc.identifier.publisherDOI | 10.1093/ndt/gfr649 | |
| dc.identifier.uri | https://boris-portal.unibe.ch/handle/20.500.12422/78774 | |
| dc.language.iso | en | |
| dc.publisher | Oxford University Press | |
| dc.publisher.place | Oxford | |
| dc.relation.isbn | 0931-0509 | |
| dc.relation.ispartof | Nephrology, dialysis, transplantation | |
| dc.relation.issn | 0931-0509 | |
| dc.relation.organization | Department of Paediatrics | |
| dc.title | CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT) | |
| dc.type | article | |
| dspace.entity.type | Publication | |
| dspace.file.type | text | |
| oaire.citation.endPage | 64 | |
| oaire.citation.issue | 6 | |
| oaire.citation.startPage | 2355 | |
| oaire.citation.volume | 27 | |
| oairecerif.author.affiliation | Universitätsklinik für Kinderheilkunde | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
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| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.contributor.role | creator | |
| unibe.date.licenseChanged | 2019-10-23 05:02:41 | |
| unibe.description.ispublished | pub | |
| unibe.eprints.legacyId | 8351 | |
| unibe.journal.abbrevTitle | NEPHROL DIAL TRANSPL | |
| unibe.subtype.article | journal |
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