Ophthalmic Genetics, 1744-5094
Tidskrift
- 2020
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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
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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
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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
- 2019
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
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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. 177-181Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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
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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. 77-79Forskningsoutput: Tidskriftsbidrag › Letter
- 2018
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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. 678-683Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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
- 2017
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
- 2014
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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. 91-106Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2011
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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. 217-227Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 83-96Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 65-74Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 75-79Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2010
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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. 114-125Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2009
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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. 1-6Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2006
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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. 51-56Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2005
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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. 119-24Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2003
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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. 215-223Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 233-245Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2002
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Clinical features of achromatopsia in Swedish patients with defined genotypes.
Louise Eksandh, Susanne Kohl & Bernd Wissinger, 2002, I: Ophthalmic Genetics. 23, 2, s. 109-20Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2001
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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. 97-105Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 1998
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A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
Ulf Ekström, Sten Andréasson, Vesna Ponjavic, Magnus Abrahamson, Ola Sandgren, Peter Nilsson-Ehle & Berndt Ehinger, 1998, I: Ophthalmic Genetics. 19, 3, s. 149-156Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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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. 187-196Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
Ulf Ekström, Vesna Ponjavic, Magnus Abrahamson, Peter Nilsson-Ehle, Sten Andréasson, Ingeborg Stenström & Berndt Ehinger, 1998, I: Ophthalmic Genetics. 19, 1, s. 27-37Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 1997
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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. 63-70Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 1995
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. 143-150Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 1992
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A six generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135–leucine)
Sten Andréasson, Berndt Ehinger, Magnus Abrahamson & G Fex, 1992, I: Ophthalmic Paediatrics and Genetics. 13, 3, s. 145-153Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift