Jacobson SG - Search Results

1

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. Khanna H, et al. Among authors: jacobson sg. Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10. Nat Genet. 2009. PMID: 19430481 Free PMC article.

2

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A. Fujita R, et al. Among authors: jacobson sg. Am J Hum Genet. 1997 Sep;61(3):571-80. doi: 10.1086/515523. Am J Hum Genet. 1997. PMID: 9326322 Free PMC article.

3

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.

4

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Swain PK, et al. Among authors: jacobson sg. Neuron. 1997 Dec;19(6):1329-36. doi: 10.1016/s0896-6273(00)80423-7. Neuron. 1997. PMID: 9427255 Free article.

5

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Gieser L, et al. Among authors: jacobson sg. Am J Hum Genet. 1998 Nov;63(5):1439-47. doi: 10.1086/302121. Am J Hum Genet. 1998. PMID: 9792872 Free PMC article.

6

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A. Fishman GA, et al. Among authors: jacobson sg. Ophthalmology. 1998 Dec;105(12):2286-96. doi: 10.1016/S0161-6420(98)91231-3. Ophthalmology. 1998. PMID: 9855162 Free article.

7

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. Thompson DA, et al. Among authors: jacobson sg. Am J Hum Genet. 2002 Jan;70(1):224-9. doi: 10.1086/338455. Epub 2001 Nov 27. Am J Hum Genet. 2002. PMID: 11727200 Free PMC article.

8

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.

9

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. Acar C, et al. Among authors: jacobson sg. Mol Vis. 2003 Jan 24;9:14-7. Mol Vis. 2003. PMID: 12552256 Free article.

10

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.

Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM. Schwartz SB, et al. Among authors: jacobson sg. Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3593-7. doi: 10.1167/iovs.03-0155. Invest Ophthalmol Vis Sci. 2003. PMID: 12882812

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