Research Explorer

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Researcher

Ludwine Messiaen

74 Results

2006

Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

Sofie De SchepperJoachim BoucneauYves Vander HaeghenLudwine MessiaenJean NaeyaertJo Lambert

A1 Journal Article in ARCHIVES OF DERMATOLOGICAL RESEARCH

Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes

Sofie De SchepperJoachim BoucneauWendy WestbroekM MOMMAASJ ONDERWATERLudwine MessiaenJean NaeyaertJo Lambert

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

2005

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome

Diane BeysenJeroen RaesBart LeroyA LucassenJRW YatesJ Clayton-SmithH IlyinaSS BrooksS Christin-MaitreMarc Fellous et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Stefan VermeulenFranki SpelemanL VANRANSBEECKJasmine VerspeetBjörn MentenMR VERSCHRAEGEN-SPAEPhilippe De WildeLudwine MessiaenRC MICHAELISJuliaan Leroy

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Pigment cell-related manifestations in neurofibromatosis type 1: an overview

Sofie De SchepperJoachim BoucneauJo LambertLudwine MessiaenJean Naeyaert

A1 Journal Article in PIGMENT CELL RESEARCH

2004

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

Juliaan LeroyBart LeroyLV EmmeryLudwine MessiaenJW Spranger

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Kathleen ClaesBruce PoppeIlse CoeneAnne De PaepeLudwine Messiaen

A1 Journal Article in BRITISH JOURNAL OF CANCER

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)

Jill YardleyBart LeroyNiki Hart-HoldenBart LafautBart LoeysLudwine MessiaenRahat PerveenM Ashwin ReddyShomi S BhattacharyaElias Traboulsi et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Neurofibromin is actively transported to the nucleus

Ina VandenbrouckePatric Van OostveldtElisabeth CoeneAnne De PaepeLudwine Messiaen

A1 Journal Article in FEBS LETTERS

2003

BRCA1/2 mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Kathleen ClaesBruce PoppeIlse CoeneAnne De PaepeLudwine Messiaen

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2

Kathleen ClaesBruce PoppeE MACHACKOVAIlse CoeneL FORETOVAAnne De PaepeLudwine Messiaen

A1 Journal Article in GENES CHROMOSOMES & CANCER

Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors

Nadine Van RoyM VAN GELEJo VandesompeleLudwine MessiaenSimon Van BelleR SCIOTK MORTELEJ GYSELINCKE MICHIELSRamses Forsyth et al.

A1 Journal Article in CANCER GENETICS AND CYTOGENETICS

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Elfride De BaereDiane BeysenChristine OleyBirgit LorenzJulie CocquetPetra De SutterKoen DevriendtMichael DixonMarc FellousJean-Pierre Fryns et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

More than 125 FOXL2 mutations and variants in BPES and POF patients in the human FOXL2 allelic variant database

Diane BeysenJo VandesompeleFilip PattynAnne De PaepeLudwine MessiaenElfride De Baere

2002

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.

K WIMMERM MUHLBAUERM ECKARTT CALLENSH REHDERT BIRKNERJuliaan LeroyC FONATSCHLudwine Messiaen

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.

D KAUFMANNW LEISTNERP KRUSEO KENNERS HOFFMEYERC HEINW VOGELLudwine MessiaenB BARTELT

A1 Journal Article in CANCER RESEARCH

Ludwine MessiaenE DE BAERE

Bookchapter in National Organization for Rare Disorders (NORD) (eds). Guide to rare disorders Publisher Lippincott, Williams and Wilkins, Philadelphia, PA, 2002, p.641. -

Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition

Ans BaeyensHubert ThierensKathleen ClaesBruce PoppeLudwine MessiaenLeo De RidderAnne Vral

A1 Journal Article in BRITISH JOURNAL OF CANCER

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.

Bart LoeysPiet HoebekeAnn RaesLudwine MessiaenAnne De PaepeJohan Vande Walle

A1 Journal Article in BJU INTERNATIONAL

Evolution and expression of FOXL2

J COCQUETE PAILHOUXF JAUBERTN SERVELX XIAM PANNETIERElfride De BaereLudwine MessiaenC COTINOTM FELLOUS et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

Stefan VermeulenLudwine MessiaenP SCHEIRSylvia De BieFranki SpelemanAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis

Elfride De BaereDiane BeysenC OLEYPetra De SutterA GARZAC JONSRUDP KOIVISTOBart LeroyB LORENZFrançoise Meire et al.

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.

Kathleen ClaesJo VandesompeleBruce PoppeK DAHANI COENEAnne De PaepeLudwine Messiaen

A1 Journal Article in ONCOGENE

Quantification of NF1 transcripts reveals novel highly expressed splice variants.

Ina VandenbrouckeJo VandesompeleAnne De PaepeLudwine Messiaen

A1 Journal Article in FEBS LETTERS

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Bart LoeysLieve NuytinckPetra Van AckerSOPHIE WALRAEDTM BONDUELLEK SERMONB HAMELA SANCHEZLudwine MessiaenAnne De Paepe

A1 Journal Article in PRENATAL DIAGNOSIS

2001

Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.

Hans Van VlierbergheJR DELANGHESylvia De BieMarleen PraetAnne De PaepeLudwine MessiaenMartine De VosGeert Leroux-Roels

A1 Journal Article in EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Carrier screening for cystic fibrosis in a prenatal setting.

Isabelle DelvauxAriane Van TongerlooLudwine MessiaenC VAN LOONSylvia De BieGeert MortierAnne De Paepe

A1 Journal Article in GENETIC TESTING

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

C GROSSElfride De BaereA LOWH CHANGLudwine Messiaen

A1 Journal Article in DNA AND CELL BIOLOGY

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

MT BASSIA BERGENP BITOUNSJ CHARLESM CLEMENTIR GOSSELINJ HURSTRA LEWISB LORENZT MEITINGER et al.

A1 Journal Article in HUMAN GENETICS

Quantification of splice variants using real-time PCR

Ina VandenbrouckeJo VandesompeleAnne De PaepeLudwine Messiaen

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Elfride De BaereM DIXONK SMALLE JABSBart LeroyK DEVRIENDTY GILLEROTGeert MortierFrançoise MeireL VAN MALDERGEM et al.

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

Elfride De BaereMichael J DixonKent W SmallEthylin W JabsBart LeroyKoenraad DevriendtYves GillerotGeert MortierFrançoise MeireLioinel Van Maldergem et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

2000

Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.

Jo LambertJM NAEYAERTAnne De PaepeRudy Van CosterA FERSTERM SONGLudwine Messiaen

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Association between the Cys282Tyr missense mutation and the haptoglobin phenotype polymorphism in patients with chronic hepatitis C

Hans Van VlierbergheLudwine MessiaenAnne De PaepeJoris DelangheMarleen PraetM De VosGeert Leroux-Roels

DNA-onderzoek in het begin van de 21ste eeuw: dromen en werkelijkheid.

Elfride De BaereLudwine Messiaen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Ludwine MessiaenT CALLENSGeert MortierDiane BeysenIna VandenbrouckeNadine Van RoyFranki SpelemanAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Identification and characterisation of a founder mutation in the Belgian breast/ovarian cancer population

Kathleen ClaesBruce PoppePETRA SCHEIRM De VosI DelveauxIlse CoeneAnne De PaepeLudwine Messiaen

Nieuwe inzichten in de moleculaire oorzaken van familiale borst- en ovariumkanker

Kathleen ClaesAnne De PaepeLudwine Messiaen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients with hereditary hemochromatosis.

Hans Van VlierbergheLudwine MessiaenMarc HautekeeteAnne De Paepe

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

Transcript mapping of the BPES critical region at 3q23: identification of novel candidate genes

Elfride De BaereLeen De VuystAnne De PaepeLudwine Messiaen

1999

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

Elfride De BaereNadine Van RoyFranki SpelemanY FUKUSHIMAAnne De PaepeLudwine Messiaen

A1 Journal Article in GENOMICS

Erfelijke hemochromatose: van Kelten en IJzeren Tijdperk tot genetische diagnose.

Hans Van VlierbergheLudwine MessiaenMarc HautekeeteA ELEWAUTAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Exclusion of the beta '-COP gene and identification of a novel candidate gene for the blepharophimosis syndrome (BPES)

Elfride De BaereE ROMANY FUKUSHIMAK VERHOEVENG VAN CAMPAnne De PaepeLudwine Messiaen

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Ludwine MessiaenT CALLENSKJ ROUXGeert MortierAnne De PaepeM ABRAMOWICZMA PERICAK-VANCEJM VANCEMR WALLACE

A1 Journal Article in GENETICS IN MEDICINE

Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach

M De VosBruce PoppeIsabelle DelvauxGeert MortierKathleen ClaesLudwine MessiaenAnne De Paepe

A1 Journal Article in DISEASE MARKERS

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5+3A > G

Kathleen ClaesE MachackovaMartine De VosBruce PoppeAnne De PaepeLudwine Messiaen

A1 Journal Article in DISEASE MARKERS

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

Kathleen ClaesEva MachackovaMichel De VosGeert MortierAnne De PaepeLudwine Messiaen

A2 Journal Article in HUMAN MUTATION

Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA sequencer

Karen SermonWilly LissensLudwine MessiaenMaryse BonduelleMark VandervorstAndré Van SteirteghemInge Liebaers

A1 Journal Article in FERTILITY AND STERILITY

The Czech Republic: Genetic counseling in high-risk breast/ovarian cancer families.

L FORETOVAE MACHACKOVAD VALIKLudwine Messiaen

A1 Journal Article in DISEASE MARKERS

1998

APC resistance and associated F II variant or C677T homozygosity

Gaston BaeleLudwine Messiaen

Application of fluorescence in situ hybridization to the identification of different marker chromosomes.

MR VERSCHRAEGEN-SPAEB QUACKS ROUSSEAUXH PISONLudwine MessiaenAnne De PaepeJ LESPINASSE

A1 Journal Article in ANNALES DE GENETIQUE

Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization.

Elfride De BaereFranki SpelemanNadine Van RoyAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

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

Elfride De BaereFranki SpelemanNadine Van RoyAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization

Elfride De BaereFranki SpelemanNadine Van RoyK MORTIERAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Geert MortierLudwine MessiaenMarc EspeelKJ SMETSBart VanzieleghemFrank RoelsAnne De Paepe

A1 Journal Article in PEDIATRIC RADIOLOGY

Human myosin V gene produces different transcripts in a cell type-specific manner

Jo LambertJean NaeyaertTOM CALLENSAnne De PaepeLudwine Messiaen

A1 Journal Article in BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Molecular analysis of lp36 breakpoints in two Merkel cell carcinomas.

Mireille Van GeleNadine Van RoySG RONANLudwine MessiaenJo VandesompeleMarie GeertsM NAEYAERTE BLENNOWI BAR-AMTK DAS GUPTA et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Molecular diagnostic evaluation of NF1 patients using the combined approach of karyotyping, fluorescent in situ hybridisation, the protein truncation assay and heteroduplex analysis

Ludwine MessiaenGeert MortierT CallensNadine Van RoyFranki SpelemanAnne De Paepe

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.

W COURTENSD GROSSMANNadine Van RoyLudwine MessiaenE VAMOSV TOPPETD HAUMONTC STREYDIOA JAUCHJR VERMEESCH et al.

A1 Journal Article in HUMAN GENETICS

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

W COURTENSW TJALMALudwine MessiaenE VAMOSJJ MARTINE VAN BOGAERTG KEERSMAEKERSP MEULYZERJ WAUTERS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

1997

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.

Ludwine MessiaenConny VAN LOONRudi ROSSAUIlse DE CANCKFrans De BaetsEddy ROBBRECHTAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Ludwine MessiaenT CALLENSA DEPAEPEMargarita CraenGeert Mortier

A1 Journal Article in HUMAN GENETICS

Experience with the APC resistance test without and with factor V deficient plasma

J Van AckerLudwine MessiaenGaston Baele

Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method

Ludwine MessiaenT CallensGaston Baele

A1 Journal Article in HAEMOSTASIS

Identification of two novel mutations in the protein S active gene using a non-isotopic scanning and sequencing method

Ludwine MessiaenT CallensBart VanbrabandtGaston Baele

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

W COURTENSFranki SpelemanLudwine MessiaenJ BORMANSNadine Van RoyE VAMOS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Resistentie tegen geactiveerd proteïne C: Casuïstiek en overzicht van de literatuur.

M REMERYLudwine MessiaenGaston Baele

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

1996

Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.

A VANLOORaymond VanholderK MADSENMarleen PraetJozef KintA DEPAEPELudwine MessiaenNorbert LameireL HASHOLTSA SORENSEN et al.

A1 Journal Article in AMERICAN JOURNAL OF NEPHROLOGY

Refined genetic and physical mapping of BPES type II

Ludwine MessiaenBart LeroySylvia De BieK De PauwNadine Van RoyFranki SpelemanG Van CampAnne De Paepe

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Report of the sixth international workshop on human chromosome 3 mapping 1995

SL NaylorB CarrittC BoileauC BeroudC AlexanderP AllderdiceA AlimovT AshworthJ BonifasP Bugert et al.

Editorial material

1995

An in vitro model for chick embryonic notochords

E GhanemLudwine MessiaenLeo De Ridder

A1 Journal Article in CYTOTECHNOLOGY

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype

Bart LeroyLudwine MessiaenNadine Van RoyFranki SpelemanAnne De Paepe

1993

Identificatie en karakterisatie van het gen voor neurofibromatose type 1 (NF1): recente ontwikkelingen

Ludwine MessiaenJuliaan Leroy

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

LACK OF INDEPENDENCE BETWEEN 5 DNA POLYMORPHISMS IN THE NF1 GENE.

Ludwine MessiaenS DEBIET MOENSA VANDENENDENJuliaan Leroy

A1 Journal Article in HUMAN MOLECULAR GENETICS