Ghent University Academic Bibliography

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- Journal Article
- A1
- open access
Multiple phenotypes in phosphoglucomutase 1 deficiency

LC Tegtmeyer, S Rust, M van Scherpenzeel, BG Ng, ME Losfeld, S Timal, K Raymond, P He, M Ichikawa, J Veltman, et al.

(2014) NEW ENGLAND JOURNAL OF MEDICINE. 370(6). p.533-542
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Belgian Shwachman-Diamond syndrome cohort update: misdiagnosis as Jeune syndrome and CMV triggerd hemophagocytosis

H Schaballie, M Renard, X Bossuyt, C Vermylen, I Hoffman, I Scheers, N Revencu, G Matthijs, L Sevenants, Maria Bordon Cueto De Braem (UGent) , et al.

(2012) JOURNAL OF CLINICAL IMMUNOLOGY. 32(suppl. 1). p.215-215
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Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

DJ Osher, Kim De Leeneer (UGent) , G Michils, N Hamel, E Tomiak, Bruce Poppe (UGent) , K Leunen, E Legius, A Shuen, E Smith, et al.

(2012) BRITISH JOURNAL OF CANCER. 106(8). p.1460-1463
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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

Kim De Leeneer (UGent) , Mieke Van Bockstal (UGent) , Sara De Brouwer (UGent) , Natalia Swietek (UGent) , Peter Schietecatte (UGent) , N Sabbaghian, J Van den Ende, S Willocx, K Storm, B Blaumeiser, et al.

(2012) BREAST CANCER RESEARCH AND TREATMENT. 133(1). p.393-398
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Evaluation of RAD51C as a new breast cancer suceptibility gene in Belgian/Dutch population

Kim De Leeneer (UGent) , M Van Bockstael, Natalia Swietek (UGent) , J Van den Ende, K Storm, B Blaumeiser, K Leunens, CJ van Asperen, JT Wijnen, E Legius, et al.

(2011) EUROPEAN JOURNAL OF HUMAN GENETICS. 19(suppl. 2). p.195-195
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Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

F FOULQUIER, E VASILE, E SCHOLLEN, Nico Callewaert (UGent) , T RAEMAEKERS, D QUELHAS, J JAEKEN, P MILLS, B WINCHESTER, M KRIEGER, et al.

(2006) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 103(10). p.3764-3769
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Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I

Nico Callewaert (UGent) , E SCHOLLEN, A VANHECKE, J JAEKEN, G MATTHIJS and Roland Contreras (UGent)

(2003) GLYCOBIOLOGY. 13(5). p.367-375
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- Journal Article
- A1
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

F HES, R ZEWALD, T PEETERS, R SIJMONS, T LINKS, J VERHEIJ, G MATTHIJS, E LEGIUS, Geert Mortier (UGent) , K VAN DER TORREN, et al.

(2000) HUMAN GENETICS. 106(4). p.425-431
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- Conference Paper
- P1
The self-assembly and inhibition of protein adsorption by thiolated dextran monolayers at hydrophobic metal surfaces

RA Frazier, MC Davies, G Matthijs, CJ Roberts, Etienne Schacht (UGent) , S Tasker and SJB Tendler

(1997) Surface modification of polymeric biomaterials. p.117-127
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- Journal Article
- A1
Molecular resolution imaging of dextran monolayers immobilized on silica by atomic force microscopy.

S TASKER, G MATTHIJS, MC DAVIES, CJ ROBERTS, Etienne Schacht (UGent) and SJB TENDLER

(1996) LANGMUIR. 12(26). p.6436-6442

Academic Bibliography

Multiple phenotypes in phosphoglucomutase 1 deficiency

Belgian Shwachman-Diamond syndrome cohort update: misdiagnosis as Jeune syndrome and CMV triggerd hemophagocytosis

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

Evaluation of RAD51C as a new breast cancer suceptibility gene in Belgian/Dutch population

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

The self-assembly and inhibition of protein adsorption by thiolated dextran monolayers at hydrophobic metal surfaces

Molecular resolution imaging of dextran monolayers immobilized on silica by atomic force microscopy.

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