Glaucoma-associated WDR36 variants encode functional defects in a yeast model system von Footz, Tim K., Johnson, Jill L., Dubois, Stéphane, Boivin, Nicolas, Raymond, Vincent, Walter, Michael A.

Volltext

Severe Molecular Defects of a Novel FOXC1 W152G Mutation Result in Aniridia von Ito, Yoko A, Footz, Tim K, Berry, Fred B, Mirzayans, Farideh, Yu, May, Khan, Arif O, Walter, Michael A

Volltext

Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11 von BRIDGLAND, Lindsay, FOOTZ, Tim K, KARDEL, Melanie D, ALI RIAZI, M, MCDERMID, Heather E

Volltext

The Gene for Death Agonist BID Maps to the Region of Human 22q11.2 Duplicated in Cat Eye Syndrome Chromosomes and to Mouse Chromosome 6 von Footz, Tim K, Birren, Bruce, Minoshima, Shinsei, Asakawa, Shuichi, Shimizu, Nobuyoshi, Riazi, M.Ali, McDermid, Heather E

Volltext

Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentrome... von Footz, T K, Brinkman-Mills, P, Banting, G S, Maier, S A, Riazi, M A, Bridgland, L, Hu, S, Birren, B, Minoshima, S, Shimizu, N, Pan, H, Nguyen, T, Fang, F, Fu, Y, Ray, L, Wu, H, Shaull, S, Phan, S, Yao, Z, Chen, F, Huan, A, Hu, P, Wang, Q, Loh, P, Qi, S, Roe, B A, McDermid, H E

Volltext

Analyses of a Novel L130F Missense Mutation in FOXC1 von Ito, Yoko A, Footz, Tim K, Murphy, Tara C, Courtens, Winnie, Walter, Michael A

Volltext

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies von Ye, Ming, Berry-Wynne, Karyn M., Asai-Coakwell, Mika, Sundaresan, Periasamy, Footz, Tim, French, Curtis R., Abitbol, Marc, Fleisch, Valerie C., Corbett, Nathan, Allison, W. Ted, Drummond, Garry, Walter, Michael A., Underhill, T. Michael, Waskiewicz, Andrew J., Lehmann, Ordan J.

Volltext

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma von Lahola-Chomiak, Adrian A, Footz, Tim, Nguyen-Phuoc, Kim, Neil, Gavin J, Fan, Baojian, Allen, Keri F, Greenfield, David S, Parrish, Richard K, Linkroum, Kevin, Pasquale, Louis R, Leonhardt, Ralf M, Ritch, Robert, Javadiyan, Shari, Craig, Jamie E, Allison, W T, Lehmann, Ordan J, Walter, Michael A, Wiggs, Janey L

Volltext

Heteroduplex-based genotyping with microchip electrophoresis and dHPLC von Footz, Tim, Somerville, Martin J, Tomaszewski, Robert, Sprysak, Kathleen A, Backhouse, Christopher J

Volltext