Lista de obras -

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

scientific article published on 23 January 2019

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

artículo científico publicado en 2009

Allergy to ophthalmic solutions

artículo científico publicado en 2014

An atypical case of neurosarcoidosis presenting with neovascular glaucoma.

artículo científico publicado en 2018

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

artículo científico publicado en 2015

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

artículo científico

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

artículo científico publicado en 2018

Bilateral Choroidal Metastases from Endobronchial Carcinoid Treated with Somatostatin Analogues

artículo científico publicado en 2016

Bilateral non-arteritic ischemic optic neuropathy in a transsexual woman using excessive estrogen dosage

artículo científico publicado en 2013

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

artículo científico publicado en 2020

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

artículo científico publicado en 2013

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

scientific article published on 01 September 2018

Cognitive outcomes in Susac syndrome: A 2‐year neuropsychological follow‐up study

artículo científico publicado en 2024

Colour Vision in Stargardt Disease

artículo científico publicado en 2015

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome

artículo científico publicado en 2014

Contact dermatitis in patients undergoing serial intravitreal injections

artículo científico publicado en 2015

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 01 April 2019

DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.

artículo científico publicado en 2016

Diplopia as presenting sign of Turcot syndrome

artículo científico publicado en 2016

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

scientific article published on 17 December 2018

Efficacy of Multiple Dexamethasone Intravitreal Implants for Refractory Retinal Vein Occlusion-Related Macular Edema and Effect of Prior Vitrectomy

scientific article published on 07 November 2018

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

artículo científico publicado en 2013

Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss

artículo científico publicado en 2021

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

artículo científico publicado en 2017

New variants and in silico analyses in GRK1 associated Oguchi disease

artículo científico publicado en 2020

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

artículo científico publicado en 2015

PATHOGENIC VARIANTS IN THE ABCC6 GENE ARE ASSOCIATED WITH AN INCREASED RISK FOR ISCHEMIC STROKE.

artículo científico publicado en 2018

Peripheral ischaemic retinopathy and neovascularisation in a patient with subacute streptococcus mitis-induced bacterial endocarditis

artículo científico publicado en 2017

The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

artículo científico publicado en 2019

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

article

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

scientific article published on 28 January 2020

Thrombomodulin and Endothelial Dysfunction: A Disease-Modifier Shared between Malignant Hypertension and Atypical Hemolytic Uremic Syndrome

artículo científico publicado en 2018

Uveitis and immune checkpoint inhibition: when a blockage isn’t just a blockage ⬇️

scholarly article

VEGFA variants as prognostic markers for the retinopathy in Pseudoxanthoma elasticum

scientific article published on 08 April 2020

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

artículo científico publicado en 2016

Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation

scientific article published on 19 October 2020

Lista de obras de

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

Allergy to ophthalmic solutions

An atypical case of neurosarcoidosis presenting with neovascular glaucoma.

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Bilateral Choroidal Metastases from Endobronchial Carcinoid Treated with Somatostatin Analogues

Bilateral non-arteritic ischemic optic neuropathy in a transsexual woman using excessive estrogen dosage

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Cognitive outcomes in Susac syndrome: A 2‐year neuropsychological follow‐up study

Colour Vision in Stargardt Disease

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome

Contact dermatitis in patients undergoing serial intravitreal injections

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.

Diplopia as presenting sign of Turcot syndrome

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Efficacy of Multiple Dexamethasone Intravitreal Implants for Refractory Retinal Vein Occlusion-Related Macular Edema and Effect of Prior Vitrectomy

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

New variants and in silico analyses in GRK1 associated Oguchi disease

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

PATHOGENIC VARIANTS IN THE ABCC6 GENE ARE ASSOCIATED WITH AN INCREASED RISK FOR ISCHEMIC STROKE.

Peripheral ischaemic retinopathy and neovascularisation in a patient with subacute streptococcus mitis-induced bacterial endocarditis

The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Thrombomodulin and Endothelial Dysfunction: A Disease-Modifier Shared between Malignant Hypertension and Atypical Hemolytic Uremic Syndrome

Uveitis and immune checkpoint inhibition: when a blockage isn’t just a blockage ⬇️

VEGFA variants as prognostic markers for the retinopathy in Pseudoxanthoma elasticum

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation