Jacobson SG - Search Results

1

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: jacobson sg. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.

2

Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG. Marmor MF, et al. Among authors: jacobson sg. Am J Ophthalmol. 1990 Aug 15;110(2):124-34. doi: 10.1016/s0002-9394(14)76980-6. Am J Ophthalmol. 1990. PMID: 2378376 Free article.

3

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al. Macke JP, et al. Among authors: jacobson sg. Am J Hum Genet. 1993 Jul;53(1):80-9. Am J Hum Genet. 1993. PMID: 8317502 Free PMC article.

4

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.

5

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.

6

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.

7

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Kohl S, et al. Among authors: jacobson sg. Nat Genet. 1998 Jul;19(3):257-9. doi: 10.1038/935. Nat Genet. 1998. PMID: 9662398

8

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT. Wissinger B, et al. Among authors: jacobson sg. Genomics. 1998 Aug 1;51(3):325-31. doi: 10.1006/geno.1998.5390. Genomics. 1998. PMID: 9721202 Free article.

9

Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.

Gao YQ, Danciger M, Akhmedov NB, Zhao DY, Heckenlively JR, Fishman GA, Weleber RG, Jacobson SG, Farber DB. Gao YQ, et al. Among authors: jacobson sg. Mol Vis. 1998 Sep 17;4:16. Mol Vis. 1998. PMID: 9743540 Free article.

10

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.

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