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Retinocytoma Undergoing Retinoblastoma Transformation in an Adult Patient

Case reports in ophthalmological medicine, 2023-07, Vol.2023, p.8127245-4

2023

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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Nature genetics, 1997-03, Vol.15 (3), p.247-251

1997

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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Nature genetics, 1999-06, Vol.22 (2), p.199-202

1999

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Genotype–phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

British journal of ophthalmology, 2008-04, Vol.92 (4), p.513-517

2008

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The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

American journal of human genetics, 1999-11, Vol.65 (5), p.1261-1267

1999

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Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina

Gene therapy, 2003-05, Vol.10 (9), p.818-821

2003

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Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

Investigative ophthalmology & visual science, 2000-01, Vol.41 (1), p.159-165

2000

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Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

Ophthalmic genetics, 2011-06, Vol.32 (2), p.114-117

2011

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Mutation Hot Spots in 5q31-Linked Corneal Dystrophies

American journal of human genetics, 1998-02, Vol.62 (2), p.320-324

1998

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Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration

Investigative ophthalmology & visual science, 2000-05, Vol.41 (6), p.1291-1296

2000

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Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier

Gene therapy, 2005-06, Vol.12 (11), p.942-947

2005

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Unilateral macular oedema in Zermatt and Stargardt macular dystrophies

British journal of ophthalmology, 2009-10, Vol.93 (10), p.1376-1377

2009

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A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

Journal of medical genetics, 2003-11, Vol.40 (11), p.e124-124

2003

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Potential blindness in children of patients with hereditary bone disease

Osteoporosis international, 2016-02, Vol.27 (2), p.841-844

2016

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A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

Human molecular genetics, 2003-03, Vol.12 (6), p.585-594

2003

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On the Role of Kerato-Epithelin in the Pathogenesis of 5q31-Linked Corneal Dystrophies

Investigative ophthalmology & visual science, 1999-09, Vol.40 (10), p.2213-2219

1999

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Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Eye (London), 2005-01, Vol.19 (1), p.92-96

2005

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Aberrant Accumulation of EFEMP1 Underlies Drusen Formation in Malattia Leventinese and Age-Related Macular Degeneration

Proceedings of the National Academy of Sciences - PNAS, 2002-10, Vol.99 (20), p.13067-13072

2002

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Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

American journal of human genetics, 2005-07, Vol.77 (1), p.54-63

2005

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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.302-308

2005

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Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma

Klinische Monatsblatter fur Augenheilkunde, 2015-04, Vol.232 (4), p.427

2015

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Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Human molecular genetics, 2001-10, Vol.10 (21), p.2415-2423

2001

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Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

Klinische Monatsblatter fur Augenheilkunde, 2016-04, Vol.233 (4), p.475

2016

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Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis

Klinische Monatsblatter fur Augenheilkunde, 2014-04, Vol.231 (4), p.405

2014

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Awareness of eye tumours in Down syndrome

British journal of ophthalmology, 2009-02, Vol.93 (2), p.276-276

2009

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Retinocytoma Undergoing Retinoblastoma Transformation in an Adult Patient

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Genotype–phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina

Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

Mutation Hot Spots in 5q31-Linked Corneal Dystrophies

Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration

Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier

Unilateral macular oedema in Zermatt and Stargardt macular dystrophies

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

Potential blindness in children of patients with hereditary bone disease

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

On the Role of Kerato-Epithelin in the Pathogenesis of 5q31-Linked Corneal Dystrophies

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Aberrant Accumulation of EFEMP1 Underlies Drusen Formation in Malattia Leventinese and Age-Related Macular Degeneration

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma

Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis

Awareness of eye tumours in Down syndrome

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