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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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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

Human mutation, 2004-04, Vol.23 (4), p.306-317

2004

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Genotyping Microarray for CSNB-Associated Genes

Investigative ophthalmology & visual science, 2009-12, Vol.50 (12), p.5919-5926

2009

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Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

Molecular vision, 2010-03, Vol.16, p.467-475

2010

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A Comprehensive Survey of Mutations in the OPA1 Gene in Patients with Autosomal Dominant Optic Atrophy

Investigative ophthalmology & visual science, 2002-06, Vol.43 (6), p.1715-1724

2002

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Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm

Ophthalmic genetics, 2012-03, Vol.33 (1), p.6-11

2012

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New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

Journal of medical genetics, 2007-03, Vol.44 (3), p.e70-e70

2007

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Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Journal of molecular medicine (Berlin, Germany), 2000-01, Vol.78 (5), p.282-286

2000

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A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

Human mutation, 2006-06, Vol.27 (6), p.553-557

2006

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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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De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

British journal of ophthalmology, 2007-08, Vol.91 (8), p.1083-1084

2007

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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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Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration

Archives of ophthalmology (1960), 2001-05, Vol.119 (5), p.745

2001

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Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

Ophthalmic genetics, 1996, Vol.17 (4), p.175-186

1996

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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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Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene

Molecular vision, 1998-12, Vol.4, p.31-31

1998

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Missense mutations in COL8A2, the gene encoding the alpha2 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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Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

Archives of ophthalmology (1960), 1996-02, Vol.114 (2), p.193

1996

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Familial adenomatous polyposis

Praxis (Bern. 1994), 1996-08, Vol.85 (35), p.1052

1996

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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

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

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

Genotyping Microarray for CSNB-Associated Genes

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

A Comprehensive Survey of Mutations in the OPA1 Gene in Patients with Autosomal Dominant Optic Atrophy

Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

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

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

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

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

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

Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

Familial adenomatous polyposis

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