Ophthalmic Genetics, 1744-5094

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  1. 2020

  2. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene

    Ulrika Kjellström, Susanne Martell, Cecilia Brobeck & Sten Andréasson, 2020 dec 27, I: Ophthalmic Genetics.

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  3. Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration

    Adel Salah Alahmadi, Abdulrahman H. Badawi, Moustafa S. Magliyah, Amani Albakri & Patrik Schatz, 2020 nov 29, I: Ophthalmic Genetics.

    Forskningsoutput: Tidskriftsbidrag › Letter

  4. Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm

    Abdulrahman AlZaid, Moustafa Magliyah, Patrik Schatz & Hassan Al-Dhibi, 2020, I: Ophthalmic Genetics. 41, 4, s. 394-396 3 s.

    Forskningsoutput: Tidskriftsbidrag › Letter

  5. 2019

  6. 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, Carola Hedberg-Oldfors, Anders Oldfors, Björn Kornhall, Catarina Lundin & Elisabeth Wittström, 2019 jul 2, I: Ophthalmic Genetics. 40, 3, s. 227–236 11 s.

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

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

    Virginie G. Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, Lotta Granse, Pietro Farinelli, Andrea Superti-Furga, Sten Andréasson & Carlo Rivolta, 2019, I: Ophthalmic Genetics. 40, 2, s. 177-181

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  8. Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis

    Moustafa Magliyah, Osama AlRaddadi, Abdullah Balbaid & Patrik Schatz, 2019, I: Ophthalmic Genetics. 40, 6, s. 588-590 3 s.

    Forskningsoutput: Tidskriftsbidrag › Letter

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

    Alanoud Aldrees, Ehab Abdelkader, Hussain Al-Habboubi, Huda Alrwebah, Zuhair Rahbeeni & Patrik Schatz, 2019, I: Ophthalmic Genetics. 40, 1, s. 77-79

    Forskningsoutput: Tidskriftsbidrag › Letter

  10. 2018

  11. Novel causative variants in patients with achromatopsia

    Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty & Patrik Schatz, 2018 nov 2, I: Ophthalmic Genetics. 39, 6, s. 678-683

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  12. Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

    Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, Carsten Bergmann, Tahani AlMurshed & Patrik Schatz, 2018, I: Ophthalmic Genetics. 39, 5, s. 659-661 3 s.

    Forskningsoutput: Tidskriftsbidrag › Letter

  13. 2017

  14. Multimodal imaging in CABP4-related retinopathy

    Patrik Schatz, Maram E A Abdalla Elsayed & Arif O. Khan, 2017, I: Ophthalmic Genetics. 38, 5, s. 459-464 6 s.

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  15. 2014

  16. Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.

    Elisabeth Wittström, Margareta Nordling & Sten Andréasson, 2014, I: Ophthalmic Genetics. 35, 2, s. 91-106

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  17. 2011

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

    Elisabeth Wittström, Vesna Ponjavic, Marie-Louise Bondeson & Sten Andréasson, 2011, I: Ophthalmic Genetics. 32, s. 217-227

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

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

    Elisabeth Wittström, Sara Ekvall, Patrik Schatz, Marie-Louise Bondeson, Vesna Ponjavic & Sten Andréasson, 2011, I: Ophthalmic Genetics. 32, s. 83-96

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

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

    Eva Malm, Vesna Ponjavic, Claes Möller, William J Kimberling & Sten Andréasson, 2011, I: Ophthalmic Genetics. 32, s. 65-74

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

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

    Thiemo Rudolph, Annica Sjolander, Mona Seibt Palmer, Lennart Minthon, Anders Wallin, Niels Andreasen, Gunnar Tasa, Erkki Juronen, Kaj Blennow, Henrik Zetterberg & Madeleine Zetterberg, 2011, I: Ophthalmic Genetics. 32, 2, s. 75-79

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  22. 2010

  23. Long-term 12 year follow-up of X-linked congenital retinoschisis.

    Sten Kjellström, Camasamudram Vijayasarathy, Vesna Ponjavic, Paul Sieving & Sten Andréasson, 2010, I: Ophthalmic Genetics. Jul 1, s. 114-125

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  24. 2009

  25. Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)

    Therése Hugosson, Lotta Gränse, Vesna Ponjavic & Sten Andréasson, 2009, I: Ophthalmic Genetics. 30, 1, s. 1-6

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  26. 2006

  27. Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2.

    Patrik Schatz, Joakim Klar, Sten Andréasson, Vesna Ponjavic & Niklas Dahl, 2006, I: Ophthalmic Genetics. 27, 2, s. 51-56

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  28. 2005

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

    Patrik Schatz, Vesna Ponjavic, Sten Andréasson, Terri L McGee, Thaddeus P Dryja & Magnus Abrahamson, 2005, I: Ophthalmic Genetics. 26, 3, s. 119-24

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  31. 2003

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

    Sten Andréasson, Debra K Breuer, Louise Eksandh, Vesna Ponjavic, Christina Frennesson, Suja Hiriyanna, Elena Filippova, Beverly M Yashar & Anand Swaroop, 2003, I: Ophthalmic Genetics. 24, 4, s. 215-223

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

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

    Lotta Gränse, Ingar C-Bergstrand, Dawn Thiselton, Vesna Ponjavic, Anders Heijl, Marcela Votruba & Sten Andréasson, 2003, I: Ophthalmic Genetics. 24, 4, s. 233-245

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  34. 2002

  35. Clinical features of achromatopsia in Swedish patients with defined genotypes.

    Louise Eksandh, Susanne Kohl & Bernd Wissinger, 2002, I: Ophthalmic Genetics. 23, 2, s. 109-20

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  36. 2001

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

    Lotta Gränse, Magnus Abrahamson, Vesna Ponjavic & Sten Andréasson, 2001, I: Ophthalmic Genetics. 22, 2, s. 97-105

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  38. 1998

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

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

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  42. 1997

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

    Vesna Ponjavic, Magnus Abrahamson, Sten Andréasson, Berndt Ehinger, Göran Fex & W Polland, 1997, I: Ophthalmic Genetics. 18, 2, s. 63-70

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  44. 1995

  45. Phenotype variation within a choroideremia family lacking the entire CHM gene

    Vesna Ponjavic, Magnus Abrahamson, Sten Andréasson, Hans van Bokhoven, Frans P M Cremers, Berndt Ehinger & Göran Fex, 1995, I: Ophthalmic Genetics. 16, 4, s. 143-150

    Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift

  46. 1992