Publications:

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Molecular Vision

Mackey, D A DA; Hewitt, A W AW; Ruddle, J B JB; Vote, B B; Buttery, R G RG; Toomes, C C; Metlapally, R R; Li, Y J YJ; Tran-Viet, K N KN; Malecaze, F F; Calvas, P P; Rosenberg, T T; Guggenheim, J A JA; Young, T L TL

Publication Date: 2011

Variant appearance in text: rs1495704

PubMed Link: 21850187

Variant Present in the following documents:

• Main text
• mv-v17-2118.pdf

View BVdb publication page

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Epilepsy Research

Chioza, Barry A BA; Aicardi, Jean J; Aschauer, Harald H; Brouwer, Oebele O; Callenbach, Petra P; Covanis, Athanasios A; Dooley, Joseph M JM; Dulac, Olivier O; Durner, Martina M; Eeg-Olofsson, Orvar O; Feucht, Martha M; Friis, Mogens Laue ML; Guerrini, Renzo R; Kjeldsen, Marianne Juel MJ; Nabbout, Rima R; Nashef, Lina L; Sander, Thomas T; Sirén, Auli A; Wirrell, Elaine E; McKeigue, Paul P; Robinson, Robert R; Gardiner, R Mark RM; Everett, Kate V KV

Publication Date: 2009-12

Variant appearance in text: rs1495704

PubMed Link: 19837565

Variant Present in the following documents:

View BVdb publication page