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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters UGent, Ingele Casteels, Françoise Meire, SARAH DE JAEGERE UGent, SALLY HOOGHE UGent, Nicole van Regemorter, Hilfr Van Esch, Ausra Matuleviciene, Luis Nunes and VALERIE MEERSSCHAUT UGent, et al. (2010) HUMAN MUTATION. 31(10). p.E1709-E1766
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
MOLECULAR DIAGNOSIS, CLINICAL DEFINITION, MUTATION ANALYSIS, GENOTYPING MICROARRAY, JOUBERT-SYNDROME, CENTROSOMAL PROTEIN, RETINITIS-PIGMENTOSA, SYNDROME-RELATED DISORDERS, SEVERE RETINAL DYSTROPHY, genotype-phenotype correlation, LEBER CONGENITAL AMAUROSIS, AHI1, modifier, LCA, CEP290
journal title
HUMAN MUTATION
Hum. Mutat.
volume
31
issue
10
pages
E1709 - E1766
Web of Science type
Article
Web of Science id
000282653900015
JCR category
GENETICS & HEREDITY
JCR impact factor
5.956 (2010)
JCR rank
18/154 (2010)
JCR quartile
1 (2010)
ISSN
1059-7794
DOI
10.1002/humu.21336
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1069228
handle
http://hdl.handle.net/1854/LU-1069228
date created
2010-11-03 11:19:14
date last changed
2010-11-03 15:50:08
@article{1069228,
  author       = {Coppieters, Frauke and Casteels, Ingele and Meire, Fran\c{c}oise and DE JAEGERE, SARAH and HOOGHE, SALLY and van Regemorter, Nicole and Van Esch, Hilfr and Matuleviciene, Ausra and Nunes, Luis and MEERSSCHAUT, VALERIE and WALRAEDT, SOPHIE and Standaert, Lieve and Coucke, Paul and Hoeben, Heidi and Kroes, Hester Y and Vande Walle, Johan and de Ravel, Thomy and Leroy, Bart and De Baere, Elfride},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keyword      = {MOLECULAR DIAGNOSIS,CLINICAL DEFINITION,MUTATION ANALYSIS,GENOTYPING MICROARRAY,JOUBERT-SYNDROME,CENTROSOMAL PROTEIN,RETINITIS-PIGMENTOSA,SYNDROME-RELATED DISORDERS,SEVERE RETINAL DYSTROPHY,genotype-phenotype correlation,LEBER CONGENITAL AMAUROSIS,AHI1,modifier,LCA,CEP290},
  language     = {eng},
  number       = {10},
  pages        = {E1709--E1766},
  title        = {Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes},
  url          = {http://dx.doi.org/10.1002/humu.21336},
  volume       = {31},
  year         = {2010},
}

Chicago
Coppieters, Frauke, Ingele Casteels, Françoise Meire, SARAH DE JAEGERE, SALLY HOOGHE, Nicole van Regemorter, Hilfr Van Esch, et al. 2010. “Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes.” Human Mutation 31 (10): E1709–E1766.
APA
Coppieters, F., Casteels, I., Meire, F., DE JAEGERE, S., HOOGHE, S., van Regemorter, N., Van Esch, H., et al. (2010). Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. HUMAN MUTATION, 31(10), E1709–E1766.
Vancouver
1.
Coppieters F, Casteels I, Meire F, DE JAEGERE S, HOOGHE S, van Regemorter N, et al. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. HUMAN MUTATION. 2010;31(10):E1709–E1766.
MLA
Coppieters, Frauke, Ingele Casteels, Françoise Meire, et al. “Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes.” HUMAN MUTATION 31.10 (2010): E1709–E1766. Print.