Sandberg MA - Search Results

1

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP. Nishiguchi KM, et al. Among authors: sandberg ma. Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24. doi: 10.1073/pnas.0408183101. Epub 2004 Dec 9. Proc Natl Acad Sci U S A. 2004. PMID: 15591106 Free PMC article.

2

Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.

DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP. DeAngelis MM, et al. Among authors: sandberg ma. Arch Ophthalmol. 2002 Mar;120(3):369-75. doi: 10.1001/archopht.120.3.369. Arch Ophthalmol. 2002. PMID: 11879142

3

Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations.

Berson EL, Rosner B, Weigel-DiFranco C, Dryja TP, Sandberg MA. Berson EL, et al. Among authors: sandberg ma. Invest Ophthalmol Vis Sci. 2002 Sep;43(9):3027-36. Invest Ophthalmol Vis Sci. 2002. PMID: 12202526

4

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Sharon D, et al. Among authors: sandberg ma. Arch Ophthalmol. 2003 Sep;121(9):1316-23. doi: 10.1001/archopht.121.9.1316. Arch Ophthalmol. 2003. PMID: 12963616

5

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. Sharon D, et al. Among authors: sandberg ma. Am J Hum Genet. 2003 Nov;73(5):1131-46. doi: 10.1086/379379. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564670 Free PMC article.

6

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP. Nishiguchi KM, et al. Among authors: sandberg ma. Nature. 2004 Jan 1;427(6969):75-8. doi: 10.1038/nature02170. Nature. 2004. PMID: 14702087

7

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. Nishiguchi KM, et al. Among authors: sandberg ma. Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142. Hum Mutat. 2005. PMID: 15712225

8

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS. Dryja TP, et al. Among authors: sandberg ma. Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9. doi: 10.1073/pnas.0501233102. Epub 2005 Mar 21. Proc Natl Acad Sci U S A. 2005. PMID: 15781871 Free PMC article.

9

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL. Sandberg MA, et al. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304. doi: 10.1167/iovs.06-0971. Invest Ophthalmol Vis Sci. 2007. PMID: 17325176

10

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP. Thiagalingam S, et al. Among authors: sandberg ma. Ophthalmic Genet. 2007 Sep;28(3):135-42. doi: 10.1080/13816810701503681. Ophthalmic Genet. 2007. PMID: 17896311

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