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

Ophthalmic genetics, 2021-04, Vol.42 (2), p.161-169

2021

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A novel phenotype associated with the R162W variant in the KCNJ13 gene

Ophthalmic genetics, 2022-07, Vol.43 (4), p.1-507

2022

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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Ophthalmic genetics, 2019-03, Vol.40 (2), p.177-181

2019

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

Ophthalmic genetics, 2014-06, Vol.35 (2), p.91-106

2014

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Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

Ophthalmic genetics, 2016-06, Vol.37 (2), p.183-193

2016

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

Ophthalmic genetics, 2010-09, Vol.31 (3), p.114-125

2010

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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

Ophthalmic genetics, 2011-11, Vol.32 (4), p.217-227

2011

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

Ophthalmic genetics, 2006-06, Vol.27 (2), p.51-56

2006

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

Ophthalmic genetics, 2011-06, Vol.32 (2), p.83-96

2011

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

Ophthalmic genetics, 2009-01, Vol.30 (1), p.1-6

2009

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Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome

Ophthalmic genetics, 2011-06, Vol.32 (2), p.65-74

2011

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Juvenile X-Linked Retinoschisis with Normal Scotopic b-Wave in the Electroretinogram at an Early Stage of the Disease

Ophthalmic genetics, 2005-09, Vol.26 (3), p.111-117

2005

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Clinical Phenotype in a Swedish Family with a Mutation in the IMPDH1 Gene

Ophthalmic genetics, 2005-09, Vol.26 (3), p.119-124

2005

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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

Ophthalmic genetics, 2003, Vol.24 (4), p.215-223

2003

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Phenotype variations within a choroideremia family lacking the entire CHM gene

Ophthalmic genetics, 1995, Vol.16 (4), p.143-150

1995

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

Ophthalmic genetics, 2003-12, Vol.24 (4), p.233-245

2003

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

Ophthalmic genetics, 2001, Vol.22 (2), p.97-105

2001

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Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

Ophthalmic genetics, 2000-06, Vol.21 (2), p.69-77

2000

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Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene

Ophthalmic genetics, 1999, Vol.20 (4), p.251-257

1999

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Best&CloseCurlyQuote;s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

Ophthalmic genetics, 2001, Vol.22 (2), p.107-115

2001

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

Ophthalmic genetics, 1998, Vol.19 (3), p.149-156

1998

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

Ophthalmic genetics, 1997-06, Vol.18 (2), p.63-70

1997

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

Ophthalmic genetics, 2001, Vol.22 (2), p.97

2001

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

Ophthalmic genetics, 1998, Vol.19 (1), p.27-37

1998

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

Ophthalmic genetics, 1998, Vol.19 (4), p.187-196

1998

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

A novel phenotype associated with the R162W variant in the KCNJ13 gene

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

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

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

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

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

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

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

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

Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome

Juvenile X-Linked Retinoschisis with Normal Scotopic b-Wave in the Electroretinogram at an Early Stage of the Disease

Clinical Phenotype in a Swedish Family with a Mutation in the IMPDH1 Gene

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

Phenotype variations within a choroideremia family lacking the entire CHM gene

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

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

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene

Best&CloseCurlyQuote;s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

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

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

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

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

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

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