Search

Your search keyword '"Baere, E."' showing total 6 results
Start Over Author "Baere, E." Database Gale General OneFile
6 results on '"Baere, E."'

1. A common NYX mutation in Flemish patients with X linked CSN

Author

Leroy, B.P., Budde, B.S., Wittmer, M., De Baere, E., Berger, W., and Zeitz, C.

Subjects
Gene mutations -- Research, Night blindness -- Genetic aspects, Night blindness -- Demographic aspects, Night blindness -- Research, Flemings -- Genetic aspects, Flemings -- Research, Health
Published
2009

2. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

Author

Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Van de Peer, Y., Veitia, R.A., De Paepe, A., and De Baere, E.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Chromosome abnormalities -- Research, Biological sciences
Published
2005

4. Evolution and expression of FOXL2. (Letter to JMG)

Author

Cocquet, J., Pailhoux, E., Jaubert, F., Servel, N., Xia, X., Pannetier, M., Baere, E. De, Messiaen, L., Cotinot, C., Fellous, M., and Veitia, R.A.

Subjects
Genetic disorders -- Research -- Genetic aspects, Syndromes -- Genetic aspects -- Research, Ovaries -- Abnormalities -- Research, Eyelids -- Abnormalities -- Research -- Genetic aspects, Blepharoptosis -- Genetic aspects -- Research, Health
Abstract

Mutations in the FOXL2 gene have recently been shown to cause the blepharophimosis-ptosis-epicanthus in-versus syndrome (BPES), a rare genetic disease (MIM 110100). (1) In type I BPES eyelid abnormalities are [...]

Published
2002

5. Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Author

De Baere, E., Dixon, M., Small, K., Jabs, E., Leroy, B., Devriendt, K., Gillerot, Y., Mortier, G., Meire, F., Van Maldergem, L., Hjalgrim, H., Huang, S., Liebaers, I., De Paepe, A., Fellous, M., Veitia, R., and Messiaen, L.

Subjects
Gene mutations -- Research, Blepharoptosis -- Genetic aspects, Genital diseases, Female -- Genetic aspects, Genetic transcription -- Research, Genetic disorders -- Research, Biological sciences
Published
2001

Catalog

Books, media, physical & digital resources
See catalog results