prof. dr. Elfride De Baere
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
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Genetic defects of female sexual differentiation
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CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
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A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment
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CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
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CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
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A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
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- Journal Article
- A1
- open access
Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
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- Journal Article
- A1
- open access
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
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- Journal Article
- A1
- open access
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
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
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- Journal Article
- A1
- open access
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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Non-coding variation in disorders of sex development
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- Journal Article
- A1
- open access
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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Inflammasomes in inflammatory disease
(2016) EUROPEAN JOURNAL OF CLINICAL INVESTIGATION. In European Journal of Clinical Investigation 46(Supplement 1). p.99-99 -
When two rare diseases coincide : Kartagener Syndrome and Familial Mediterranean Fever
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CVID, isolated IgG deficiency and isolated IgG subclass deficiency : clinical features and B cell maturation of the Ghent cohort
(2016) -
Incidental findings : an opportunity for autonomy or a case of hidden heteronomy?
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Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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De genetische revolutie in beeld gebracht : nieuwe diagnostische mogelijkheden voor aandoeningen van de geslachtsontwikkeling
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
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Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
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JAK2 deficiency as a novel cause of impaired Th17 immunity
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The immunophenotypical landscape of patients with primary antibody deficiencies and their asymptomatic first-degree relatives : arguments for a multifactorial aetiology
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Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation
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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation
(2016) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 113(50). p.14384-14389 -
- Journal Article
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis