Anneke I. den Hollander
Department of Human Genetics
Radboud University
Nijmegen Medical Centre
Nijmegen
Netherlands
Name/email consistency: high
- Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. den Hollander, A.I., van Lith-Verhoeven, J.J., Arends, M.L., Strom, T.M., Cremers, F.P., Hoyng, C.B. Arch. Ophthalmol. (2007)
- Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. den Hollander, A.I., Koenekoop, R.K., Mohamed, M.D., Arts, H.H., Boldt, K., Towns, K.V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., Ivings, L., Williams, G.A., Springell, K., Woods, C.G., Jafri, H., Rashid, Y., Strom, T.M., van der Zwaag, B., Gosens, I., Kersten, F.F., van Wijk, E., Veltman, J.A., Zonneveld, M.N., van Beersum, S.E., Maumenee, I.H., Wolfrum, U., Cheetham, M.E., Ueffing, M., Cremers, F.P., Inglehearn, C.F., Roepman, R. Nat. Genet. (2007)
- Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. den Hollander, A.I., Lopez, I., Yzer, S., Zonneveld, M.N., Janssen, I.M., Strom, T.M., Hehir-Kwa, J.Y., Veltman, J.A., Arends, M.L., Meitinger, T., Musarella, M.A., van den Born, L.I., Fishman, G.A., Maumenee, I.H., Rohrschneider, K., Cremers, F.P., Koenekoop, R.K. Invest. Ophthalmol. Vis. Sci. (2007)
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. den Hollander, A.I., Koenekoop, R.K., Yzer, S., Lopez, I., Arends, M.L., Voesenek, K.E., Zonneveld, M.N., Strom, T.M., Meitinger, T., Brunner, H.G., Hoyng, C.B., van den Born, L.I., Rohrschneider, K., Cremers, F.P. Am. J. Hum. Genet. (2006)
- CRB1 mutation spectrum in inherited retinal dystrophies. den Hollander, A.I., Davis, J., van der Velde-Visser, S.D., Zonneveld, M.N., Pierrottet, C.O., Koenekoop, R.K., Kellner, U., van den Born, L.I., Heckenlively, J.R., Hoyng, C.B., Handford, P.A., Roepman, R., Cremers, F.P. Hum. Mutat. (2004)
