Ludwine Messiaen
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Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes
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Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?
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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
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Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
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Pigment cell-related manifestations in neurofibromatosis type 1: an overview
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Neurofibromin is actively transported to the nucleus
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A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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- Conference Paper
- C3
- open access
More than 125 FOXL2 mutations and variants in BPES and POF patients in the human FOXL2 allelic variant database
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Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors
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Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
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BRCA1/2 mutation spectrum and frequencies in Belgian breast/ovarian cancer families
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Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
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Evolution and expression of FOXL2
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Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.
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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
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BPES
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Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition
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Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
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A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
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Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5 ' end of the BRCA1 gene.
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Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.
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Quantification of NF1 transcripts reveals novel highly expressed splice variants.
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
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Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Quantification of splice variants using real-time PCR
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Carrier screening for cystic fibrosis in a prenatal setting.
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Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
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Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.
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Identification and characterisation of a founder mutation in the Belgian breast/ovarian cancer population
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Transcript mapping of the BPES critical region at 3q23: identification of novel candidate genes
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Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients with hereditary hemochromatosis.
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Association between the Cys282Tyr missense mutation and the haptoglobin phenotype polymorphism in patients with chronic hepatitis C
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Nieuwe inzichten in de moleculaire oorzaken van familiale borst- en ovariumkanker
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DNA-onderzoek in het begin van de 21ste eeuw: dromen en werkelijkheid.
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
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Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.
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Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint
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Exclusion of the beta '-COP gene and identification of a novel candidate gene for the blepharophimosis syndrome (BPES)
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Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5+3A > G
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Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA sequencer
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The Czech Republic: Genetic counseling in high-risk breast/ovarian cancer families.
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Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease
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Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach
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Erfelijke hemochromatose: van Kelten en IJzeren Tijdperk tot genetische diagnose.
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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
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Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization
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Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta ' subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization
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Molecular diagnostic evaluation of NF1 patients using the combined approach of karyotyping, fluorescent in situ hybridisation, the protein truncation assay and heteroduplex analysis
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APC resistance and associated F II variant or C677T homozygosity
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Human myosin V gene produces different transcripts in a cell type-specific manner
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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.
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Molecular analysis of lp36 breakpoints in two Merkel cell carcinomas.
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Application of fluorescence in situ hybridization to the identification of different marker chromosomes.
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Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.
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Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?
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Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization.
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Identification of two novel mutations in the protein S active gene using a non-isotopic scanning and sequencing method
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Experience with the APC resistance test without and with factor V deficient plasma
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Resistentie tegen geactiveerd proteïne C: Casuïstiek en overzicht van de literatuur.
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Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.
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Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method
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Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
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Report of the sixth international workshop on human chromosome 3 mapping 1995
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Refined genetic and physical mapping of BPES type II
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Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype
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An in vitro model for chick embryonic notochords
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Identificatie en karakterisatie van het gen voor neurofibromatose type 1 (NF1): recente ontwikkelingen
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LACK OF INDEPENDENCE BETWEEN 5 DNA POLYMORPHISMS IN THE NF1 GENE.