Abrahamson M - Search Results

1

Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.

Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A. Ponjavic V, et al. Among authors: abrahamson m. Ophthalmic Genet. 1998 Dec;19(4):187-96. doi: 10.1076/opge.19.4.187.2305. Ophthalmic Genet. 1998. PMID: 9895243

2

Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.

Eksandh L, Andréasson S, Abrahamson M. Eksandh L, et al. Among authors: abrahamson m. Ophthalmic Genet. 2005 Sep;26(3):111-7. doi: 10.1080/13816810500228688. Ophthalmic Genet. 2005. PMID: 16272055

3

Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M. Schatz P, et al. Among authors: abrahamson m. Ophthalmic Genet. 2005 Sep;26(3):119-24. doi: 10.1080/13816810500229090. Ophthalmic Genet. 2005. PMID: 16272056

4

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S. Hugosson T, et al. Among authors: abrahamson m. Arch Ophthalmol. 2010 Jun;128(6):772-8. doi: 10.1001/archophthalmol.2010.98. Arch Ophthalmol. 2010. PMID: 20547956 Free PMC article.

5

A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.

Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G, Polland W. Ponjavic V, et al. Among authors: abrahamson m. Ophthalmic Genet. 1997 Jun;18(2):63-70. Ophthalmic Genet. 1997. PMID: 9228242

6

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: abrahamson m. Am J Hum Genet. 1997 Sep;61(3):571-80. doi: 10.1086/515523. Am J Hum Genet. 1997. PMID: 9326322 Free PMC article.

7

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.

Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B. Ekström U, et al. Among authors: abrahamson m. Ophthalmic Genet. 1998 Mar;19(1):27-37. doi: 10.1076/opge.19.1.27.2179. Ophthalmic Genet. 1998. PMID: 9587927

8

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.

Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls TJ, Andréasson S, Swaroop A. Bauer S, et al. Among authors: abrahamson m. Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2470-4. Invest Ophthalmol Vis Sci. 1998. PMID: 9804156

9

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.

Ekström U, Andréasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, Ehinger B. Ekström U, et al. Among authors: abrahamson m. Ophthalmic Genet. 1998 Sep;19(3):149-56. doi: 10.1076/opge.19.3.149.2186. Ophthalmic Genet. 1998. PMID: 9810570

10

Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene.

Gränse L, Abrahamson M, Ponjavic V, Andréasson S. Gränse L, et al. Among authors: abrahamson m. Ophthalmic Genet. 2001 Jun;22(2):97-105. doi: 10.1076/opge.22.2.97.2231. Ophthalmic Genet. 2001. PMID: 11449319

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