prof. dr. Bart Leroy
work address
C. Heymanslaan 10
9000 Gent
9000 Gent
ORCID iD
https://orcid.org/0000-0002-9899-2081
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- 2018
- Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
- Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
- Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel variants in known disease genes
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- 2017
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel variants in known disease genes
- Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
- arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- Diplopia as presenting sign of Turcot syndrome
- 2016
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Hidden genetic variation in retinal dystrophies – exploring the contribution of copy number variations
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
- Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature
- Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
- Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
- Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
- Do not turn a blind eye to alkyl nitrite (poppers)!
- 2015
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Colour vision in Stargardt disease
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa
- Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
- Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up
- Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
- Retinal development in infants and young children with achromatopsia
- Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
- Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
- Prominent Mittendorf spot
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
- Refsum disease
- 2014
- Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
- Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
- Abnormal retinal development associated with FRMD7 mutations
- Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
- SLC24A5 Mutations are associated with non-syndromic oculocutaneous albinism
- 2013
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies
- A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
- Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
- A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
- Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
- The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
- High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy
- Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
- Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
- Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
- Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
- 2012
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
- Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions
- Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
- Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
- Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
- Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function
- A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
- BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
- Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
- Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
- Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
- Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
- Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)
- 2011
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
- The human visual cortex responds to gene therapy-mediated recovery of retinal function
- Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa
- Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome
- Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
- Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination
- Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
- Childhood onset autosomal recessive bestrophinopathy
- Discordance for retinitis pigmentosa in two monozygotic twin pairs
- The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus
- Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart
- Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
- 2010
- Ptosis as an associated finding in maternally inherited diabetes and deafness
- DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen: netvliesaandoeningen als voorbeeld
- CEP290, a gene with many faces : mutation overview and presentation of CEP290base
- Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
- A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy
- Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy
- Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
- Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum
- 2009
- Normalization of Generalized Retinal Function and Progression of Maculopathy after Cessation of Therapy in a Case of Severe Hydroxychloroquine Retinopathy with 19 years Follow-Up
- TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
- Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
- Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
- The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
- A common NYX mutation in Flemish patients with X linked CSNB
- Genotyping microarray for CSNB-associated genes
- ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY
- 2008
- Ocular features of treatable lysosomal storage disorders: Fabry disease, mucopolysaccharidoses I, II, VI, and Gaucher disease
- Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
- Vitamin A deficiency during pregnancy and congenital microphthalmos
- Orbital cyst and bilaterel colobomatous microphthalmos Reply
- Cancer-associated retinopathy (CAR) with electronegative ERG: a case report
- Biallelic mutation of BEST1 causes a distinct retinopathy in humans
- Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
- Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
- 2007
- Two cases of acute macular neuroretinopathy
- Preliminary screening results for fabry disease in young stroke patients reveals a new mutation
- High β-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos
- Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
- Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
- Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
- Development of a genotyping microarray for Usher syndrome
- Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
- Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
- 2006
- Retinal vessel dilation following repletion of vitamin A deficiency
- Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
- Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers
- 2005
- Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
- Mutations in VMD2 cause autosomal dominant vitreoretinochoroidopathy (ADVIRC)
- Myopia: more than a refractive error: Lasik and retinal dystrophies
- Reversible visual deficit and corpus callosum lesions due to metronidazole toxicity
- 2004
- Centrale en perifere neurologische toxiciteit door metronidazol
- A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
- Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy
- The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
- Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
- Progressive rod-cone dystrophy with subacute angle-closure glaucoma
- Progressive cone dystrophy and sensorineural hearing loss
- 2003
- Clinical features & retinal function in patients with Adult Refsum Syndrome
- Leber congenital amaurosis
- Alport syndrome and conjunctival telangiectasia
- The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
- FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
- 2002
- Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
- Genetic causes of retinal blindness
- 2001
- Spectrum of mutations in USH2A in British patients with Usher syndrome type II
- Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
- Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
- Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
- Mesopic visual acuity requirements for driving licences in the European Union research report
- A gene for nonsyndromic persistant hyperplastic primary vitreous maps to chromosome10q11-21 in a Pakistani family.
- 2000
- RP1 protein truncating mutations predominate at the RP1 adRP locus
- Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24
- Prevalence of AIPL1 mutations in inherited retinal degenerative disease
- Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
- 1998
- A large field panel D-15 test for low vision patients
- 1997
- Colour vision and colour vision deficiencies
- 1996
- Ophthalmological signs of tuberous sclerosis
- Refined genetic and physical mapping of BPES type II
- Neuropsychological aspects of Marfan syndrome
- 1995
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype
- 1994
- Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8
- 1992
- T-cell receptor expression in patients with rheumatic diseases
- T-cell receptor expression in patients with rheumatic diseases
- undated
- Mutations in Usherin in British patients with Usher syndrome type 2