PuSH - Publication Server of Helmholtz Zentrum München

14 Records found.
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1.
Kohl, S.* et al.: Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat. Genet. 47, 757-765 (2015)
2.
Collin, R.W.* et al.: ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc. Natl. Acad. Sci. U.S.A. 110, 9856-9861 (2013)
3.
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)
4.
Azam, M.* et al.: Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 129, 1377-1378 (2011)
5.
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)
6.
Coene, K.L.* et al.: The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum. Mol. Genet. 20, 3592-3605 (2011)
7.
Siemiatkowska, A.M.* et al.: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol. Vis. 17, 3013-3024 (2011)
8.
Collin, R.W.* et al.: Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83, 594-603 (2008)
9.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
10.
den Hollander, A.I.* et al.: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat. Genet. 39, 889-895 (2007)
11.
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)
12.
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)
13.
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)
14.
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)