Mostrar el registro sencillo del ítem
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
| dc.rights.license | open | en_US |
| dc.contributor.author | SERGOUNIOTIS, Panagiotis I | |
| hal.structure.identifier | CHU de Bordeaux Pellegrin [Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MICHAUD, Vincent | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| dc.contributor.author | CAMPBELL, Christopher | |
| dc.contributor.author | PLAISANT, Claudio | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | JAVERZAT, Sophie
IDREF: 123786355 | |
| dc.contributor.author | BIRNEY, Ewan | |
| dc.contributor.author | RAMSDEN, Simon C | |
| dc.contributor.author | BLACK, Graeme C | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| dc.date.accessioned | 2024-02-16T12:49:40Z | |
| dc.date.available | 2024-02-16T12:49:40Z | |
| dc.date.issued | 2023-11-27 | |
| dc.identifier.issn | 1468-6244 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/188206 | |
| dc.description.abstractEn | Albinism is a clinically and genetically heterogeneous group of conditions characterised by visual abnormalities and variable degrees of hypopigmentation. Multiple studies have demonstrated the clinical utility of genetic investigations in individuals with suspected albinism. Despite this, the variation in the provision of genetic testing for albinism remains significant. One key issue is the lack of a standardised approach to the analysis of genomic data from affected individuals. For example, there is variation in how different clinical genetic laboratories approach genotypes that involve incompletely penetrant alleles, including the common, 'hypomorphic' c.1205G>A (p.Arg402Gln) [rs1126809] variant. Here, we discuss the value of genetic testing as a frontline diagnostic tool in individuals with features of albinism and propose a practice pattern for the analysis of genomic data from affected families. | |
| dc.description.sponsorship | Approches de génétique moléculaire et fonctionnelle pour déchiffrer les mécanismes physiopathologiques de l'albinisme oculocutané. - ANR-21-CE17-0041 | en_US |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject.en | Humans | |
| dc.subject.en | Albinism | |
| dc.subject.en | Albinism | |
| dc.subject.en | Oculocutaneous | |
| dc.subject.en | Genetic Testing | |
| dc.subject.en | Genotype | |
| dc.subject.en | Alleles | |
| dc.title.en | A multilayered approach to the analysis of genetic data from individuals with suspected albinism. | |
| dc.title.alternative | J Med Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1136/jmg-2022-109088 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 37460203 | en_US |
| bordeaux.journal | Journal of Medical Genetics | en_US |
| bordeaux.page | 1245-1249 | en_US |
| bordeaux.volume | 60 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 12 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-04462059 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-02-16T12:49:42Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal%20of%20Medical%20Genetics&rft.date=2023-11-27&rft.volume=60&rft.issue=12&rft.spage=1245-1249&rft.epage=1245-1249&rft.eissn=1468-6244&rft.issn=1468-6244&rft.au=SERGOUNIOTIS,%20Panagiotis%20I&MICHAUD,%20Vincent&LASSEAUX,%20Eulalie&CAMPBELL,%20Christopher&PLAISANT,%20Claudio&rft.genre=article |
