| Literature DB >> 23851227 |
Anneke T Vulto-van Silfhout1, Conny M A van Ravenswaaij, Jayne Y Hehir-Kwa, Eugène T P Verwiel, Rita Dirks, Steven van Vooren, Albert Schinzel, Bert B A de Vries, Nicole de Leeuw.
Abstract
The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations. ECARUCA now contains over 4800 cases with a total of more than 6600 genetic aberrations and has over 3000 account holders worldwide. Recently, the ECARUCA web site was renewed, including the presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. This article gives an overview of the current status and future plans of the online ECARUCA database.Entities:
Keywords: Array; Copy number variant; Database; ECARUCA; European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations; LDDB; Unbalanced chromosome aberration; Winter-Baraitser London Dysmorphology DataBase
Mesh：
Year: 2013 PMID： 23851227 DOI： 10.1016/j.ejmg.2013.06.010
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708