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ECARUCA specifications

Information


Unique identifier OMICS_28626
Name ECARUCA
Alternative name European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Registration required Yes
Maintained No

Documentation


Maintainers


This tool is not available anymore.

Additional information


http://ecaruca.radboudumc.nl:8080/ecaruca/faq.jsp

Publications for European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

ECARUCA citations

 (3)
library_books

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

2018
PMCID: 5941813
PMID: 29760780
DOI: 10.1186/s13039-018-0374-4

[…] to exclude copy number changes considered to be benign variants. The DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources) (https://decipher.sanger.ac.uk/) and ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations) (http://umcecaruca01.extern.umcn.nl:8080/ecaruca/ecaruca.jsp) databases were used to assist with the genoty […]

library_books

Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype

2015
PMCID: 4479342
PMID: 26110020
DOI: 10.1186/s13039-015-0137-4

[…] rations listed in publicly available databases. We used the DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources), the Database of Genomic Variants, Ensembl and ECARUCA. […]

library_books

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray based Comparative Genomic Hybridization

2015
PMCID: 4404657
PMID: 25901183
DOI: 10.1186/s13039-015-0127-6

[…] to exclude copy number changes considered to be benign variants. The DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources) (https://decipher.sanger.ac.uk/) and ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations) (http://umcecaruca01.extern.umcn.nl:8080/ecaruca/ecaruca.jsp) databases were used as resources to aid in th […]

Citations

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ECARUCA institution(s)
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Cartagenia N.V., Technologielaan 3, Leuven, Belgium; Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
ECARUCA funding source(s)
Supported by the European Union Fifth Framework Programme; "The Quality of Life and Management of Living Resources".

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