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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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A common NYX mutation in Flemish patients with X linked CSNB

British journal of ophthalmology, 2009-05, Vol.93 (5), p.692-696

2009

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Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy

British journal of ophthalmology, 2004-04, Vol.88 (4), p.583-585

2004

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Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

British journal of ophthalmology, 2007-01, Vol.91 (1), p.89-93

2007

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Two cases of acute macular neuroretinopathy

Eye (London), 2007-09, Vol.21 (9), p.1226-1229

2007

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Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

British journal of radiology, 2006-03, Vol.79 (939), p.221-225

2006

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Genetic retinal diseases

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

LEROY, BP

2012

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Causes of night blindness

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

LEROY, BP

2011

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The Bestrophinopathies

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

LEROY, BP

2011

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Etiological diagnosis in the hearing impaired newborn: Proposal of a flow chart

International journal of pediatric otorhinolaryngology, 2011-01, Vol.75 (1), p.27-32

2011

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A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

American journal of medical genetics, 2004-02, Vol.125A (1), p.49-56

2004

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human molecular genetics, 2001-07, Vol.10 (15), p.1591-1600

2001

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The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

Clinical genetics, 2003-04, Vol.63 (4), p.303-307

2003

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Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy : report of a new pedigree

Graefe's archive for clinical and experimental ophthalmology, 2001-08, Vol.239 (8), p.575-582

2001

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RP1 Protein Truncating Mutations Predominate at the RP1 adRP Locus

Investigative ophthalmology & visual science, 2000-12, Vol.41 (13), p.4069-4073

2000

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Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

American journal of human genetics, 2000-11, Vol.67 (5), p.1129-1135

2000

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Genetic determinants of abnormal eye movements

Acta ophthalmologica (Oxford, England), 2008-09, Vol.86 (s243), p.0-0

LEROY, BP

2008

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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

American journal of human genetics, 2012-09, Vol.91 (3), p.527-532

2012

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Pivotal role for SD‐OCT in the diagnosis of acute zonal occult outer retinopathy

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

2011

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Toxic optic neuropathy secondary to disulfiram: a case series

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

2011

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Bilateral non‐arteritic ischemic optic neuropathy due to excessive use of transdermal estrogen by transgender patient

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.101-108

2013

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31

2008

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Colour Vision in Stargardt Disease

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

2011

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Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

Molecular genetics and metabolism, 2000-06, Vol.70 (2), p.142-150

2000

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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

A common NYX mutation in Flemish patients with X linked CSNB

Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

Two cases of acute macular neuroretinopathy

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Genetic retinal diseases

Causes of night blindness

The Bestrophinopathies

Etiological diagnosis in the hearing impaired newborn: Proposal of a flow chart

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy : report of a new pedigree

RP1 Protein Truncating Mutations Predominate at the RP1 adRP Locus

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Genetic determinants of abnormal eye movements

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Pivotal role for SD‐OCT in the diagnosis of acute zonal occult outer retinopathy

Toxic optic neuropathy secondary to disulfiram: a case series

Bilateral non‐arteritic ischemic optic neuropathy due to excessive use of transdermal estrogen by transgender patient

Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Colour Vision in Stargardt Disease

Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

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