Publications by authors named "Els Schollen"

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TMEM165 deficiency causes a congenital disorder of glycosylation.
François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen

Am J Hum Genet· July 2012

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Screening for OST deficiencies in unsolved CDG-I patients.
Wendy Vleugels, Els Schollen, François Foulquier, Gert Matthijs

Biochem Biophys Res Commun· December 2009

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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Els Schollen, Liesbeth Keldermans, François Foulquier, Paz Briones, Amparo Chabas

Mol Genet Metab· April 2007

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Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
François Foulquier, Eliza Vasile, Els Schollen, Nico Callewaert, Tim Raemaekers

Proc Natl Acad Sci U S A· March 2006

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CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Michael Weinstein, Els Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet

Am J Med Genet A· July 2005

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Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
Els Schollen, Elisabeth Dequeker, Shirley McQuaid, Bruno Vankeirsbilck, Geneviève Michils

Hum Mutat· June 2005

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Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
Claudia E Grubenmann, Christian G Frank, Andreas J Hülsmeier, Els Schollen, Gert Matthijs

Hum Mol Genet· March 2004

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The prenatal diagnosis of congenital disorders of glycosylation (CDG).
Gert Matthijs, Els Schollen, Emile Van Schaftingen

Prenat Diagn· February 2004

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Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.
Michael Butler, D Quelhas, Alison J Critchley, Hubert Carchon, Holger F Hebestreit, Els Schollen

Glycobiology· September 2003

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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, Els Schollen, Annelies Vanhecke, Jaak Jaeken, Gert Matthijs

Glycobiology· May 2003

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Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
Johan L K Van Hove, Ron A Wevers, Johan Van Cleemput, Philippe Moerman, Raf Sciot, Els Schollen

Am J Med Genet A· May 2003

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PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
Els Schollen, Gert Matthijs, Marc Gewillig, Jean-Pierre Fryns, Eric Legius

Eur J Hum Genet· January 2003

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DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Els Schollen, Kevin Martens, Elke Geuzens, Gert Matthijs

Eur J Hum Genet· October 2002

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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Vibeke Westphal, Susanne Kjaergaard, Els Schollen, Kevin Martens, Stephanie Grunewald

Hum Mol Genet· March 2002

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