An update on ECARUCA, the european cytogeneticists association register of unbalanced chromosome aberrations

European Journal of Medical Genetics

Volumn 56, Issue 9, 2013, Pages 471-474

  Vulto van Silfhout, Anneke T ^a   van Ravenswaaij, Conny M A ^b   Hehir Kwa, Jayne Y ^a   Verwiel, Eugène T P ^a   Dirks, Rita ^a   van Vooren, Steven ^c   Schinzel, Albert ^d   de Vries, Bert B A ^a   De Leeuw, Nicole ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c Cartagenia   (Belgium)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Array; Copy number variant; Database; ECARUCA; LDDB; Unbalanced chromosome aberration

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME BAND; CLINICAL FEATURE; COPY NUMBER VARIATION; CYTOGENETICS; DATA BASE; GENE DUPLICATION; GENETIC DATABASE; HUMAN; INFORMATION CENTER; MEDICAL GENETICS; MEDICAL SOCIETY; ONLINE ANALYSIS; PHENOTYPE; REGISTER; TETRAPLOIDY; TRIPLOIDY; UNBALANCED CHROMOSOME ABERRATION; WEB BROWSER;

ARRAY; COPY NUMBER VARIANT; DATABASE; ECARUCA; EUROPEAN CYTOGENETICISTS ASSOCIATION REGISTER OF UNBALANCED CHROMOSOME ABERRATIONS; LDDB; UNBALANCED CHROMOSOME ABERRATION; WINTER-BARAITSER LONDON DYSMORPHOLOGY DATABASE;

CHROMOSOME ABERRATIONS; DATABASES, NUCLEIC ACID; EUROPE; GENOME, HUMAN; HUMANS; ONLINE SYSTEMS; REGISTRIES;

EID: 84884210954     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.06.010     Document Type: Article

References (12)

1. Feenstra I., Fang J., Koolen D.A., Siezen A., Evans C., Winter R.M., Lees M.M., Riegel M., de Vries B.B., Van Ravenswaaij C.M., Schinzel A. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur. J. Med. Genet. 2006, 49:279-291.
2. Firth H.V., Richards S.M., Bevan A.P., Clayton S., Corpas M., Rajan D., Van Vooren S., Moreau Y., Pettett R.M., Carter N.P. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am. J. Hum. Genet. 2009, 84:524-533.
3. Kaminsky E.B., Kaul V., Paschall J., Church D.M., Bunke B., Kunig D., Moreno-De-Luca D., Moreno-De-Luca A., Mulle J.G., Warren S.T., Richard G., Compton J.G., Fuller A.E., Gliem T.J., Huang S., Collinson M.N., Beal S.J., Ackley T., Pickering D.L., Golden D.M., Aston E., Whitby H., Shetty S., Rossi M.R., Rudd M.K., South S.T., Brothman A.R., Sanger W.G., Iyer R.K., Crolla J.A., Thorland E.C., Aradhya S., Ledbetter D.H., Martin C.L. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet. Med. 2011, 13:777-784.
4. de Leeuw N., Dijkhuizen T., Hehir-Kwa J.Y., Carter N.P., Feuk L., Firth H.V., Kuhn R.M., Ledbetter D.H., Martin C.L., van Ravenswaaij-Arts C.M., Scherer S.W., Shams S., Van Vooren S., Sijmons R., Swertz M., Hastings R. Diagnostic interpretation of array data using public databases and internet sources. Hum. Mutat. 2012, 33:930-940.
5. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man 2001, De Gruyter, Berlin.
6. Shaffer L.G., Slovak M.L., Campbell L.J. ISCN 2009: An International System for Human Cytogenetic Nomenclature 2009, S. Karger AG, Basel.
7. Winter R.M., Baraitser M. The London Dysmorphology Database. J.Med. Genet. 1987, 24:509-510.
8. Bruno D.L., Anderlid B.M., Lindstrand A., van Ravenswaaij-Arts C., Ganesamoorthy D., Lundin J., Martin C.L., Douglas J., Nowak C., Adam M.P., Kooy R.F., Van der Aa N., Reyniers E., Vandeweyer G., Stolte-Dijkstra I., Dijkhuizen T., Yeung A., Delatycki M., Borgstrom B., Thelin L., Cardoso C., van Bon B., Pfundt R., de Vries B.B., Wallin A., Amor D.J., James P.A., Slater H.R., Schoumans J. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J.Med. Genet. 2010, 47:299-311.
9. van Bon B.W., Mefford H.C., Menten B., Koolen D.A., Sharp A.J., Nillesen W.M., Innis J.W., de Ravel T.J., Mercer C.L., Fichera M., Stewart H., Connell L.E., Ounap K., Lachlan K., Castle B., Van der Aa N., van Ravenswaaij C., Nobrega M.A., Serra-Juhe C., Simonic I., de Leeuw N., Pfundt R., Bongers E.M., Baker C., Finnemore P., Huang S., Maloney V.K., Crolla J.A., van Kalmthout M., Elia M., Vandeweyer G., Fryns J.P., Janssens S., Foulds N., Reitano S., Smith K., Parkel S., Loeys B., Woods C.G., Oostra A., Speleman F., Pereira A.C., Kurg A., Willatt L., Knight S.J., Vermeesch J.R., Romano C., Barber J.C., Mortier G., Perez-Jurado L.A., Kooy F., Brunner H.G., Eichler E.E., Kleefstra T., de Vries B.B. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J.Med. Genet. 2009, 46:511-523.
10. Willemsen M.H., de Leeuw N., Mercer C., Eisenhauer H., Morris J., Collinson M.N., Barber J.C., Lam S.T., Lo I.F., Rensen H., Ferwerda A., Hamel B.C., Kleefstra T. Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions. Am. J. Med. Genet. 2011, 155A:106-112.
11. Boulding H., Webber C. Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders. Hum. Mutat. 2012, 33:874-883.
12. Robinson P.N., Kohler S., Bauer S., Seelow D., Horn D., Mundlos S. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 2008, 83:610-615.