X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Bader, Ingrid, Brandau, Oliver, Achatz, Helene, Apfelstedt-Sylla, Eckart, Hergersberg, Martin, Lorenz, Birgit, Wissinger, Bernd, Wittwer, Barbel, Rudolph, Gunther, Meindl, Alfons, Meitinger, Thomas
Published in Investigative ophthalmology & visual science (01.04.2003)
Published in Investigative ophthalmology & visual science (01.04.2003)
Get full text
Journal Article
Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain
Gaudenz, Karin, Roessler, Erich, Quaderi, Nandita, Franco, Brunella, Feldman, George, Gasser, David L., Wittwer, Bärbel, Montini, Eugenio, Opitz, John M., Ballabio, Andrea, Muenke, Maximilian
Published in American journal of human genetics (01.09.1998)
Published in American journal of human genetics (01.09.1998)
Get full text
Journal Article
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
Meindl, A, Carvalho, M R, Herrmann, K, Lorenz, B, Achatz, H, Apfelstedt-Sylla, E, Wittwer, B, Ross, M, Meitinger, T
Published in Human molecular genetics (01.12.1995)
Published in Human molecular genetics (01.12.1995)
Get more information
Journal Article
Further localization of X-linked hydrocephalus in the chromosomal region Xq28
Willems, P J, Vits, L, Raeymaekers, P, Beuten, J, Coucke, P, Holden, J J, Van Broeckhoven, C, Warren, S T, Sagi, M, Robinson, D
Published in American journal of human genetics (01.08.1992)
Get full text
Published in American journal of human genetics (01.08.1992)
Journal Article
Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
Meschede, D, Exeler, R, Wittwer, B, Horst, J
Published in American journal of medical genetics (28.12.1998)
Published in American journal of medical genetics (28.12.1998)
Get more information
Journal Article
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3
Wittwer, B, Kircheisen, R, Leutelt, J, Orth, U, Gal, A
Published in American journal of medical genetics (12.07.1996)
Published in American journal of medical genetics (12.07.1996)
Get more information
Journal Article