PuSH - Publication Server of Helmholtz Zentrum München

16 Records found.
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1.
Hermann, M.M.* et al.: Polymorphisms in vascular endothelial growth factor receptor 2 are associated with better response rates to ranibizumab treatment in age-related macular degeneration. Ophthalmology 121, 905-910 (2014)
2.
Roosing, S.* et al.: Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93, 110-117 (2013)
3.
Azam, M.* et al.: Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 129, 1377-1378 (2011)
4.
Boldt, K. et al.: Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J. Clin. Invest. 121, 2169-2180 (2011)
5.
Collin, R.W.* et al.: High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest. Ophthalmol. Vis. Sci. 52, 2227-2239 (2011)
6.
Siemiatkowska, A.M.* et al.: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol. Vis. 17, 3013-3024 (2011)
7.
Azam, M.* et al.: Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol. Vis. 16, 774-781 (2010)
8.
Bandah-Rozenfeld, D.* et al.: Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87, 199-208 (2010)
9.
Bandah-Rozenfeld, D.* et al.: Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest. Ophthalmol. Vis. Sci. 51, 4387-4394 (2010)
10.
Thiadens, A.A.H.J.* et al.: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85, 240-247 (2009)
11.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
12.
den Hollander, A.I.* et al.: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat. Genet. 39, 889-895 (2007)
13.
den Hollander, A.I.* et al.: Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Arch. Ophthalmol. 125, 932-935 (2007)
14.
den Hollander, A.I.* et al.: Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest. Ophthalmol. Vis. Sci. 48, 5690-5698 (2007)
15.
den Hollander, A.I.* et al.: Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis. Am. J. Hum. Genet. 79, 556-561 (2006)
16.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)