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D

De Baere, E. and Beysen, D. and Oley, C. and De Sutter, P. and Garza, A. and Jonsrud, C. and Koivisto, P. and Leroy, B. and Lorenz, Birgit and Meire, F. and Plomp, A. and Van Maldergern, L. and De Paepe, A. and Cocquet, J. and Fellous, M. and Veitia, R. and Messiaen, L. (2002) Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis. In: 52nd Annual Meeting of the American-Society-of-Human-Genetics, OCT 15-19, 2002, BALTIMORE, MARYLAND.

De Baere, Elfride and Beysen, Diane and Oley, Christine and Lorenz, Birgit and Cocquet, Julie and De Sutter, Paul and Devriendt, Koen and Dixon, Michael and Fellous, Marc and Fryns, Jean-Pierre and Garza, Arturo and Jonsrud, Christoffer and Koivisto, Pasi A. and Krause, Amanda and Leroy, Bart P. and Meire, Francoise and Plomp, Astrid and Van Maldergem, Lionel and De Paepe, Anne and Veitia, Reiner and Messiaen, Ludwine (2003) FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. AMERICAN JOURNAL OF HUMAN GENETICS, 72 (2). pp. 478-487. ISSN 0002-9297

K

Kohl, Susanne and Baumann, Britta and Rosenberg, Thomas and Kellner, Ulrich and Lorenz, Birgit and Vadala, Maria and Jacobson, Samuel G. and Wissinger, Bernd (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. AMERICAN JOURNAL OF HUMAN GENETICS, 71 (2). pp. 422-425. ISSN 0002-9297