An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Autor: Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van Ravenswaaij CM, Hehir-Kwa JY, Verwiel ET, Dirks R, van Vooren S, Schinzel A, de Vries BB, de Leeuw N
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2013 Sep; Vol. 56 (9), pp. 471-4. Date of Electronic Publication: 2013 Jul 12.
DOI: 10.1016/j.ejmg.2013.06.010
Abstrakt: 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.
(Copyright © 2013 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: