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Browsing by Author Koenekoop, R.K.

Full Text	Issue Date	Title	Author(s)
	2011	IQCB1 mutations in patients with leber congenital amaurosis	Estrada-Cuzcano, A.; Koenekoop, R.K.; Coppieters, F.; Kohl, S.; Lopez, I., et al
	2011	Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice	Boldt, K.; Mans, D.A.; Won, J.; Reeuwijk, J. van; Vogt, A., et al
	2010	Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.	Littink, K.W.; Born, L.I. van den; Koenekoop, R.K.; Collin, R.W.J.; Zonneveld, M.N., et al
	2010	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.	Otto, E.A.; Hurd, T.W.; Airik, R.; Chaki, M.; Zhou, W., et al
	2010	Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.	Littink, K.W.; Koenekoop, R.K.; Born, L.I. van den; Collin, R.W.J.; Moruz, L.M., et al
	2010	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.	Littink, K.W.; Pott, J.W.; Collin, R.W.J.; Kroes, H.Y.; Verheij, J.B., et al
	2010	AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.	Louie, C.M.; Caridi, G.; Lopes, V.S.; Brancati, F.; Kispert, A., et al
	2009	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.	Khanna, H.; Davis, E.E.; Murga-Zamalloa, C.A.; Estrada-Cuzcano, A.; Lopez, I., et al
	2009	Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.	Thiadens, A.A.H.J.; Hollander, A.I. den; Roosing, S.; Nabuurs, S.B.; Zekveld-Vroon, R.C., et al
	2009	Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.	Wang, H.; Hollander, A.I. den; Moayedi, Y.; Abulimiti, A.; Li, Y., et al
	2008	Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.	Collin, R.W.; Littink, K.W.; Klevering, B.J.; Born, L.I. van den; Koenekoop, R.K., et al
	2008	Leber congenital amaurosis: genes, proteins and disease mechanisms.	Hollander, A.I. den; Roepman, R.; Koenekoop, R.K.; Cremers, F.P.M.
	2007	Development of a genotyping microarray for Usher syndrome.	Cremers, F.P.M.; Kimberling, W.J.; Kulm, M.; Brouwer, A.P.M. de; Wijk, E. van, et al
	2007	Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.	Hollander, A.I. den; Lopez, I.; Yzer, S.; Zonneveld, M.N.; Janssen, I.M., et al
	2007	Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.	Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K., et al
	2007	Leber congenital amaurosis: ciliary proteins on the move.	Koenekoop, R.K.; Cremers, F.P.M.; Hollander, A.I. den
	2007	Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.	Koenekoop, R.K.; Lopez, I.; Hollander, A.I. den; Allikmets, R.; Cremers, F.P.M.
	2007	Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.	Yzer, S.; Born, L.I. van den; Zonneveld, M.N.; Lopez, I.; Ayyagari, R., et al
	2006	CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.	Yzer, S.; Fishman, G.A.; Racine, J.; Al-Zuhaibi, S.; Chakor, H., et al
	2006	Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.	Hollander, A.I. den; Koenekoop, R.K.; Yzer, S.; Lopez, I.; Arends, M.L., et al
	2005	Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.	Zernant, J.; Kulm, M.; Dharmaraj, S.; Hollander, A.I. den; Perrault, I., et al
	2005	Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis	Hurk, J.A.J.M. van den; Rashbass, P.; Roepman, R.; Davis, J.; Voesenek, K.E.J., et al
	2004	CRB1 mutation spectrum in inherited retinal dystrophies.	Hollander, A.I. den; Davis, J.; Velde-Visser, S.D. van der; Zonneveld-Vrieling, M.N.; Pierrottet, C.O., et al