Jacobson SG - Search Results

1

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ. Ouyang XM, et al. Among authors: jacobson sg. Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20. Hum Genet. 2005. PMID: 15660226

2

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ. Yan D, et al. Among authors: jacobson sg. J Hum Genet. 2009 Dec;54(12):732-8. doi: 10.1038/jhg.2009.107. Epub 2009 Oct 30. J Hum Genet. 2009. PMID: 19881469 Free PMC article.

3

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CW, Wagenaar M, Moller C, Smith RJ, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson SG, Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ. Astuto LM, et al. Among authors: jacobson sg. Am J Hum Genet. 2000 Dec;67(6):1569-74. doi: 10.1086/316889. Epub 2000 Nov 1. Am J Hum Genet. 2000. PMID: 11060213 Free PMC article.

4

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Fields RR, Zhou G, Huang D, Davis JR, Möller C, Jacobson SG, Kimberling WJ, Sumegi J. Fields RR, et al. Among authors: jacobson sg. Am J Hum Genet. 2002 Sep;71(3):607-17. doi: 10.1086/342098. Epub 2002 Jul 16. Am J Hum Genet. 2002. PMID: 12145752 Free PMC article.

5

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. Mears AJ, et al. Among authors: jacobson sg. Am J Hum Genet. 1999 Mar;64(3):897-900. doi: 10.1086/302298. Am J Hum Genet. 1999. PMID: 10053026 Free PMC article. No abstract available.

6

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A. Buraczynska M, et al. Among authors: jacobson sg. Am J Hum Genet. 1997 Dec;61(6):1287-92. doi: 10.1086/301646. Am J Hum Genet. 1997. PMID: 9399904 Free PMC article.

7

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: jacobson sg. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.

8

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

Maeda T, Cideciyan AV, Maeda A, Golczak M, Aleman TS, Jacobson SG, Palczewski K. Maeda T, et al. Among authors: jacobson sg. Hum Mol Genet. 2009 Jun 15;18(12):2277-87. doi: 10.1093/hmg/ddp163. Epub 2009 Apr 1. Hum Mol Genet. 2009. PMID: 19339306 Free PMC article.

9

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Jacobson SG, et al. Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140. Epub 2008 May 7. Hum Mol Genet. 2008. PMID: 18463160 Free PMC article.

10

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Among authors: jacobson sg. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.

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