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Browsing by Author Lopez, I.

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
	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
	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	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
	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	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
	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
	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	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	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
	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
	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
	2002	Effects of fibroblast growth factor and glial-derived neurotrophic factor on akinesia, F-DOPA uptake and dopamine cells in parkinsonian primates	Fontan, A.; Roja, A.; Sanchez Pernaute, R.; Hernandez, I.; Lopez, I., et al