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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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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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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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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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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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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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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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Keratoepithelin in secondary corneal amyloidosis

Graefe's archive for clinical and experimental ophthalmology, 2006-06, Vol.244 (6), p.725-731

2006

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Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35

American journal of human genetics, 1998-09, Vol.63 (3), p.921-926

1998

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Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

American journal of human genetics, 2000-11, Vol.67 (5), p.1309-1313

2000

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Humidity’s effect on the dynamic-mechanical behavior of phenol-formaldehyde impregnated beech wood veneer

Bioresources, 2020-02, Vol.15 (1), p.1563-1574

2020

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Exclusion of COL8A1, the gene encoding the α2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy

British journal of ophthalmology, 2006-11, Vol.90 (11), p.1430-1431

2006

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The IC3D classification of the corneal dystrophies

Klinische Monatsblatter fur Augenheilkunde, 2011-01, Vol.228 Suppl 1, p.S1

2011

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Idiopathic cyclitic retrolental membrane in children

Klinische Monatsblätter für Augenheilkunde, 2005-03, Vol.222 (3), p.271-274

2005

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A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

American journal of human genetics, 2001-03, Vol.68 (3), p.772-777

2001

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Genomic Characterization and Embryonic Expression of the Mouse Bigh3 (Tgfbi) Gene

Biochemical and biophysical research communications, 2000-08, Vol.274 (2), p.267-274

2000

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Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

American journal of human genetics, 2008-05, Vol.82 (5), p.1178-1184

2008

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Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA)

Klinische Monatsblätter für Augenheilkunde, 2007-04, Vol.224 (4), p.340-343

2007

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Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Human genetics, 2003-05, Vol.112 (5-6), p.593-599

2003

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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

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

Mutation Hot Spots in 5q31-Linked Corneal Dystrophies

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

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

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

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

Keratoepithelin in secondary corneal amyloidosis

Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Humidity’s effect on the dynamic-mechanical behavior of phenol-formaldehyde impregnated beech wood veneer

Exclusion of COL8A1, the gene encoding the α2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy

The IC3D classification of the corneal dystrophies

Idiopathic cyclitic retrolental membrane in children

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Genomic Characterization and Embryonic Expression of the Mouse Bigh3 (Tgfbi) Gene

Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA)

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

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