Research Explorer

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Researcher

Sylvia De Bie

Awards & Distinctions

12 Results

2014

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Saiqa YasmeenKatrine LundAnne De PaepeSylvia De BieArvid HeibergJoão SilvaMárcia MartinsTina SkjørringeLisbeth B Møller

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2005

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

Jo VandesompeleM BAUDISKatleen De PreterNadine Van RoyP AMBROSN BOWNC BRINKSCHMIDTH CHRISTIANSENV COMBARETM LASTOWSKA et al.

A1 Journal Article in JOURNAL OF CLINICAL ONCOLOGY

2004

DUP25 remains unconfirmed

Stefan VermeulenBjörn MentenSylvia De BiePaul CouckeFransiska MalfaitJulie De BackerFranki SpelemanAnne De PaepeB LOEYS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2002

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

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

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Bart LoeysLieve NuytinckIsabelle DelvauxSylvia De BieAnne De Paepe

A1 Journal Article in ARCHIVES OF INTERNAL MEDICINE

1996

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

1995

Diagnosis of human peroxisomal disorders. A handbook

Frank RoelsSylvia De BieRDBH SCHUTGENSG BESLEY

A2 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

Jean-Marie NaeyaertLieve NuytinckSylvia De BieHilde BeeleAndré KintAnne De Paepe

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Linkage: a primer for dermatologists

Sylvia De BieAnne De Paepe

A2 Journal Article in Eur. J. Dermatol., 5, 653-658

Klinische Genetica. Een medische tak in volle expansie. Hoofdstuk voor het boek 'Het Medisch Jaar' (editie 1998), 1997.

Bart LoeysSylvia De BieAnne De Paepe