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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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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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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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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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Amyloid and Non-amyloid Forms of 5q31-linked Corneal Dystrophy Resulting from Kerato-epithelin Mutations at Arg-124 Are Associated with Abnormal Turnover of the Protein

The Journal of biological chemistry, 2000-04, Vol.275 (15), p.11465-11469

2000

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Pupillometric quantification of residual rod and cone activity in patients with visual loss due to Leber congenital amaurosis

Acta ophthalmologica (Oxford, England), 2011-09, Vol.89 (s248), p.0-0

2011

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Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis

American journal of human genetics, 1998-12, Vol.63 (6), p.1903-1907

1998

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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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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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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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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Human mutation, 2001-03, Vol.17 (3), p.235-235

2001

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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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An efficient segmentation method for ultrasound images based on a semi-supervised approach and patch-based features

2011 IEEE International Symposium on Biomedical Imaging: From Nano to Macro, 2011, p.969-972

2011

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Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX

European journal of human genetics : EJHG, 1996, Vol.4 (4), p.214-218

1996

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Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees

Human genetics, 1994-11, Vol.94 (5), p.484-490

1994

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A molecular perspective on corneal dystrophies

Developments in ophthalmology, 2003, Vol.37, p.50-66

2003

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Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

American journal of human genetics, 2004-05, Vol.74 (5), p.817-826

2004

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Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations

The Journal of biological chemistry, 2004-07, Vol.279 (29), p.30469-30473

2004

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New frontiers in ocular genetics

Revue medicale de la Suisse romande, 1998-11, Vol.118 (11), p.959

Munier, F L

1998

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Bmi1 Loss Produces an Increase in Astroglial Cells and a Decrease in Neural Stem Cell Population and Proliferation

The Journal of neuroscience, 2005-06, Vol.25 (24), p.5774-5783

2005

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Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients

Ophthalmic genetics, 2001, Vol.22 (1), p.11-18

2001

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Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

Ophthalmic genetics, 2002, Vol.23 (3), p.167-174

2002

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

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

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

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

Amyloid and Non-amyloid Forms of 5q31-linked Corneal Dystrophy Resulting from Kerato-epithelin Mutations at Arg-124 Are Associated with Abnormal Turnover of the Protein

Pupillometric quantification of residual rod and cone activity in patients with visual loss due to Leber congenital amaurosis

Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis

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

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

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

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

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

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

An efficient segmentation method for ultrasound images based on a semi-supervised approach and patch-based features

Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX

Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees

A molecular perspective on corneal dystrophies

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations

New frontiers in ocular genetics

Bmi1 Loss Produces an Increase in Astroglial Cells and a Decrease in Neural Stem Cell Population and Proliferation

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients

Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

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