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Diplopia as presenting sign of Turcot syndrome.
Published in:
2017
By:
- Ninclaus, Virginie;
- Walraedt, Sophie;
- Baert, Edward;
- Laureys, Geneviève;
- Leroy, Bart;
- Zaeytijd, Julie
Publication type:
Report
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 568, doi. 10.1038/jid.2013.360
By:
- Morice-Picard, Fanny;
- Lasseaux, Eulalie;
- François, Stéphane;
- Simon, Delphine;
- Rooryck, Caroline;
- Bieth, Eric;
- Colin, Estelle;
- Bonneau, Dominique;
- Journel, Hubert;
- Walraedt, Sophie;
- Leroy, Bart P;
- Meire, Francoise;
- Lacombe, Didier;
- Arveiler, Benoit
Publication type:
Article
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170038
By:
- Van Cauwenbergh, Caroline;
- Coppieters, Frauke;
- Roels, Dimitri;
- De Jaegere, Sarah;
- Flipts, Helena;
- De Zaeytijd, Julie;
- Walraedt, Sophie;
- Claes, Charlotte;
- Fransen, Erik;
- Van Camp, Guy;
- Depasse, Fanny;
- Casteels, Ingele;
- de Ravel, Thomy;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. E1709, doi. 10.1002/humu.21336
By:
- Coppieters, Frauke;
- Casteels, Ingele;
- Meire, Françoise;
- De Jaegere, Sarah;
- Hooghe, Sally;
- van Regemorter, Nicole;
- Van Esch, Hilde;
- Matulevičienė, Aušra;
- Nunes, Luis;
- Meersschaut, Valérie;
- Walraedt, Sophie;
- Standaert, Lieve;
- Coucke, Paul;
- Hoeben, Heidi;
- Kroes, Hester Y.;
- Vande Walle, Johan;
- de Ravel, Thomy;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article

Found: 4

Diplopia as presenting sign of Turcot syndrome.

SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism.

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

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