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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Barbara D'haene UGent, J Nevado, M Pugeat, G Pierquin, RB Lowry, W Reardon, A Delicado, S García-Miñaur, M Palomares, W Courtens, et al. (2010) HUMAN MUTATION. 31(5). p.E1332-E1347
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
BPES, FOXL2, gene deletion, genotype-phenotype correlations, EPICANTHUS INVERSUS SYNDROME, TIME QUANTITATIVE PCR, BLEPHAROPHIMOSIS-SYNDROME, PTOSIS, MUTATIONS, REARRANGEMENTS, ARCHITECTURE, PHENOTYPES, DISORDERS, MECHANISM
journal title
HUMAN MUTATION
Hum. Mutat.
volume
31
issue
5
pages
E1332 - E1347
Web of Science type
Article
Web of Science id
000279982000002
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.21233
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1002485
handle
http://hdl.handle.net/1854/LU-1002485
date created
2010-07-05 14:00:25
date last changed
2016-12-19 15:46:25
@article{1002485,
  author       = {D'haene, Barbara and Nevado, J and Pugeat, M and Pierquin, G and Lowry, RB and Reardon, W and Delicado, A and Garc{\'i}a-Mi{\~n}aur, S and Palomares, M and Courtens, W and Stefanova, M and Wallace, S and Watkins, W and Shelling, AN and Wieczorek, D and Veitia, RA and De Paepe, Anne and Lapunzina, P and De Baere, Elfride},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keyword      = {BPES,FOXL2,gene deletion,genotype-phenotype correlations,EPICANTHUS INVERSUS SYNDROME,TIME QUANTITATIVE PCR,BLEPHAROPHIMOSIS-SYNDROME,PTOSIS,MUTATIONS,REARRANGEMENTS,ARCHITECTURE,PHENOTYPES,DISORDERS,MECHANISM},
  language     = {eng},
  number       = {5},
  pages        = {E1332--E1347},
  title        = {FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions},
  url          = {http://dx.doi.org/10.1002/humu.21233},
  volume       = {31},
  year         = {2010},
}

Chicago
D’haene, Barbara, J Nevado, M Pugeat, G Pierquin, RB Lowry, W Reardon, A Delicado, et al. 2010. “FOXL2 Copy Number Changes in the Molecular Pathogenesis of BPES: Unique Cohort of 17 Deletions.” Human Mutation 31 (5): E1332–E1347.
APA
D’haene, Barbara, Nevado, J., Pugeat, M., Pierquin, G., Lowry, R., Reardon, W., Delicado, A., et al. (2010). FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. HUMAN MUTATION, 31(5), E1332–E1347.
Vancouver
1.
D’haene B, Nevado J, Pugeat M, Pierquin G, Lowry R, Reardon W, et al. FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. HUMAN MUTATION. 2010;31(5):E1332–E1347.
MLA
D’haene, Barbara, J Nevado, M Pugeat, et al. “FOXL2 Copy Number Changes in the Molecular Pathogenesis of BPES: Unique Cohort of 17 Deletions.” HUMAN MUTATION 31.5 (2010): E1332–E1347. Print.