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A decade in search of myopia genes.
Jacobi FK, Pusch CM. Jacobi FK, et al. Front Biosci (Landmark Ed). 2010 Jan 1;15:359-72. doi: 10.2741/3625. Front Biosci (Landmark Ed). 2010. PMID: 20036825 Review.
A genetic perspective on myopia.
Jacobi FK, Zrenner E, Broghammer M, Pusch CM. Jacobi FK, et al. Cell Mol Life Sci. 2005 Apr;62(7-8):800-8. doi: 10.1007/s00018-004-4353-z. Cell Mol Life Sci. 2005. PMID: 15868405 Review.
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.
Nürnberg G, Jacobi FK, Broghammer M, Becker C, Blin N, Nürnberg P, Stephani U, Pusch CM. Nürnberg G, et al. Int J Mol Med. 2008 Apr;21(4):429-38. Int J Mol Med. 2008. PMID: 18360688
Examination of a German six-generation kindred by 10K whole genome chips led to the identification of a 19-cM map segment as being the most likely familial myopia candidate region spanning from chromosomal band 12q14.3 to 12q21.31 (MYP3). ...This new composite region is lo …
Examination of a German six-generation kindred by 10K whole genome chips led to the identification of a 19-cM map segment as being th …
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM. Jacobi FK, et al. Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):822-8. doi: 10.1007/s00417-002-0562-z. Epub 2002 Sep 21. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 12397430
Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M. Pusch CM, et al. J Mol Med (Berl). 2004 Jun;82(6):398-402. doi: 10.1007/s00109-004-0538-z. Epub 2004 Mar 24. J Mol Med (Berl). 2004. PMID: 15042303
Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.
Jacobi FK, Leo-Kottler B, Mittelviefhaus K, Zrenner E, Meyer J, Pusch CM, Wissinger B. Jacobi FK, et al. Invest Ophthalmol Vis Sci. 2001 May;42(6):1208-14. Invest Ophthalmol Vis Sci. 2001. PMID: 11328729
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
Riemann K, Sotlar K, Kupka S, Braun S, Zenner HP, Preyer S, Pfister M, Pusch CM, Blin N. Riemann K, et al. Cancer Genet Cytogenet. 2004 Apr 15;150(2):128-35. doi: 10.1016/j.cancergencyto.2003.10.013. Cancer Genet Cytogenet. 2004. PMID: 15066320
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