Ophthalmic Genetics, 1744-5094

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  1. 2019
  2. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

    Monika Meinert, Elisabet Englund, Hedberg-Oldfors, C., Oldfors, A., Kornhall, B., Lundin, C. & Wittström, E., 2019 Jul 2, In : Ophthalmic Genetics. 40, 3, p. 227–236 11 p.

    Research output: Contribution to journalArticle

  3. A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

    Peter, V. G., Nikopoulos, K., Quinodoz, M., Granse, L., Farinelli, P., Superti-Furga, A., Sten Andréasson & Rivolta, C., 2019, In : Ophthalmic Genetics. 40, 2, p. 177-181

    Research output: Contribution to journalArticle

  4. Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

    Aldrees, A., Abdelkader, E., Al-Habboubi, H., Alrwebah, H., Rahbeeni, Z. & Schatz, P., 2019, In : Ophthalmic Genetics. 40, 1, p. 77-79

    Research output: Contribution to journalLetter

  5. 2018
  6. Novel causative variants in patients with achromatopsia

    Abdelkader, E., Brandau, O., Bergmann, C., AlSalamah, N., Nowilaty, S. & Schatz, P., 2018 Nov 2, In : Ophthalmic Genetics. 39, 6, p. 678-683

    Research output: Contribution to journalArticle

  7. 2017
  8. Multimodal imaging in CABP4-related retinopathy

    Schatz, P., Elsayed, M. E. A. A. & Khan, A. O., 2017, In : Ophthalmic Genetics. 38, 5, p. 459-464 6 p.

    Research output: Contribution to journalArticle

  9. 2014
  10. Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.

    Wittström, E., Nordling, M. & Sten Andréasson, 2014, In : Ophthalmic Genetics. 35, 2, p. 91-106

    Research output: Contribution to journalArticle

  11. 2011
  12. Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy.

    Wittström, E., Ponjavic, V., Bondeson, M-L. & Sten Andréasson, 2011, In : Ophthalmic Genetics. 32, p. 217-227

    Research output: Contribution to journalArticle

  13. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

    Wittström, E., Ekvall, S., Schatz, P., Bondeson, M-L., Ponjavic, V. & Sten Andréasson, 2011, In : Ophthalmic Genetics. 32, p. 83-96

    Research output: Contribution to journalArticle

  14. Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome.

    Malm, E., Ponjavic, V., Möller, C., Kimberling, W. J. & Sten Andréasson, 2011, In : Ophthalmic Genetics. 32, p. 65-74

    Research output: Contribution to journalArticle

  15. Ubiquitin Carboxyl-Terminal Esterase L1 (UCHL1) S18Y Polymorphism In Patients With Cataracts

    Rudolph, T., Sjolander, A., Palmer, M. S., Lennart Minthon, Wallin, A., Andreasen, N., Tasa, G., Juronen, E., Blennow, K., Zetterberg, H. & Zetterberg, M., 2011, In : Ophthalmic Genetics. 32, 2, p. 75-79

    Research output: Contribution to journalArticle

  16. 2010
  17. Long-term 12 year follow-up of X-linked congenital retinoschisis.

    Kjellström, S., Vijayasarathy, C., Ponjavic, V., Sieving, P. & Sten Andréasson, 2010, In : Ophthalmic Genetics. Jul 1, p. 114-125

    Research output: Contribution to journalArticle

  18. 2009
  19. Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)

    Therése Hugosson, Gränse, L., Ponjavic, V. & Sten Andréasson, 2009, In : Ophthalmic Genetics. 30, 1, p. 1-6

    Research output: Contribution to journalArticle

  20. 2006
  21. Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2.

    Schatz, P., Klar, J., Sten Andréasson, Ponjavic, V. & Dahl, N., 2006, In : Ophthalmic Genetics. 27, 2, p. 51-56

    Research output: Contribution to journalArticle

  22. 2005
  23. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

    Schatz, P., Ponjavic, V., Sten Andréasson, McGee, T. L., Dryja, T. P. & Magnus Abrahamson, 2005, In : Ophthalmic Genetics. 26, 3, p. 119-24

    Research output: Contribution to journalArticle

  24. 2003
  25. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

    Sten Andréasson, Breuer, D. K., Louise Eksandh, Ponjavic, V., Frennesson, C., Hiriyanna, S., Filippova, E., Yashar, B. M. & Swaroop, A., 2003, In : Ophthalmic Genetics. 24, 4, p. 215-223

    Research output: Contribution to journalArticle

  26. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene

    Gränse, L., C-Bergstrand, I., Thiselton, D., Ponjavic, V., Anders Heijl, Votruba, M. & Sten Andréasson, 2003, In : Ophthalmic Genetics. 24, 4, p. 233-245

    Research output: Contribution to journalArticle

  27. 2002
  28. Clinical features of achromatopsia in Swedish patients with defined genotypes.

    Louise Eksandh, Kohl, S. & Wissinger, B., 2002, In : Ophthalmic Genetics. 23, 2, p. 109-20

    Research output: Contribution to journalArticle

  29. 2001
  30. Electrophysiologic findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene

    Gränse, L., Magnus Abrahamson, Ponjavic, V. & Sten Andréasson, 2001, In : Ophthalmic Genetics. 22, 2, p. 97-105

    Research output: Contribution to journalArticle

  31. 1998
  32. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype

    Ponjavic, V., Sten Andréasson, Magnus Abrahamson, Berndt Ehinger, Gieser, L., Fujita, R. & Swaroop, A., 1998, In : Ophthalmic Genetics. 19, 4, p. 187-196

    Research output: Contribution to journalArticle

  33. 1997
  34. A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267–Leu

    Ponjavic, V., Magnus Abrahamson, Sten Andréasson, Berndt Ehinger, Fex, G. & Polland, W., 1997, In : Ophthalmic Genetics. 18, 2, p. 63-70

    Research output: Contribution to journalArticle

  35. 1995
  36. Phenotype variation within a choroideremia family lacking the entire CHM gene

    Ponjavic, V., Magnus Abrahamson, Sten Andréasson, van Bokhoven, H., Cremers, F. P. M., Berndt Ehinger & Fex, G., 1995, In : Ophthalmic Genetics. 16, 4, p. 143-150

    Research output: Contribution to journalArticle

  37. 1992