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1

Congenital Disorders of Glycosylation: A Review av Stephanie Grünewald, Gert Matthijs, Jaak Jaeken

Publicerad 2002

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Desensitization to cytoplasmic Ca2+ and Ca2+ sensitivities of guinea‐pig ileum and rabbit pulmonary artery smooth muscle. av Bernard Himpens, Gert Matthijs, A P Somlyo

Publicerad 1989

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Carbohydrate deficient glycoprotein (CDG) syndrome type I. av Jaak Jaeken, Gert Matthijs, Rita Barone, Hubert Carchon

Publicerad 1997

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How Golgi glycosylation meets and needs trafficking: the case of the COG complex av Ellen Reynders, François Foulquier, Wim Annaert, Gert Matthijs

Publicerad 2010

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On the nomenclature of congenital disorders of glycosylation (CDG) av J. Jaeken, Thierry Hennet, Hudson H. Freeze, Gert Matthijs

Publicerad 2008

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CDG nomenclature: Time for a change! av Jaak Jaeken, Thierry Hennet, Gert Matthijs, Hudson H. Freeze

Publicerad 2009

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Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure av Koenraad Devriendt, Christine Vanhole, Gert Matthijs, Francis de Zegher

Publicerad 1998

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8

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) av Els Schollen, Susanne Kjærgaard, Eric Legius, Marianne Schwartz, Gert Matthijs

Publicerad 2000

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High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency) av Stephanie Grünewald, Els Schollen, Emile Van Schaftingen, Jaak Jaeken, Gert Matthijs

Publicerad 2001

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10

Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality av Christian Thiel, Torben Lübke, Gert Matthijs, Kurt Von Figura, Christian Körner

Publicerad 2006

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11

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A av Gert Matthijs, Els Schollen, Emile Van Schaftingen, Jean‐Jacques Cassiman, Jaak Jaeken

Publicerad 1998

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12

Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle. av Bernard Himpens, Gert Matthijs, Avril V. Somlyo, T. M. Butler, A P Somlyo

Publicerad 1988

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13

Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions av Manuela Simoni, Egbert Bakker, Eurlings, Gert Matthijs, Enrico Moro, Müller, Vogt Vogt

Publicerad 1999

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14

A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency av Aimée Paulussen, Adam Raes, Gert Matthijs, Dirk J. Snyders, Nadine Cohen, Jeroen Aerssens

Publicerad 2002

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15

Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature av Eva Van Steijvoort, Davit Chokoshvili, Jeffrey W. Cannon, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry

Publicerad 2020

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16

Golgi function and dysfunction in the first COG4-deficient CDG type II patient av Ellen Reynders, François Foulquier, Elisa Leão Teles, Dulce Quelhas, Willy Morelle, Cathérine Rabouille, Wim Annaert, Gert Matthijs

Publicerad 2009

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17

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing av Simon Ardui, Valérie Race, Alena Zablotskaya, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch

Publicerad 2016

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18

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 av Renate Zeevaert, Francis de Zegher, Luisa Sturiale, Domenico Garozzo, Maria-Helena Smet, Marian Moens, Gert Matthijs, J. Jaeken

Publicerad 2012

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19

Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study av G Michils, Sabine Tejpar, Ronald Thoelen, Eric Van Cutsem, Joris Vermeesch, Jean‐Pierre Fryns, Eric Legius, Gert Matthijs

Publicerad 2005

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20

N-glycosylation as a eukaryotic protective mechanism against protein aggregation av Ramon Duran‐Romaña, Bert Houben, Matthias De Vleeschouwer, Nikolaos Louros, Matthew P. Wilson, Gert Matthijs, Joost Schymkowitz, Fréderic Rousseau

Publicerad 2024

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Sökresultat - Gert Matthijs

Congenital Disorders of Glycosylation: A Review av Stephanie Grünewald, Gert Matthijs, Jaak Jaeken

Desensitization to cytoplasmic Ca2+ and Ca2+ sensitivities of guinea‐pig ileum and rabbit pulmonary artery smooth muscle. av Bernard Himpens, Gert Matthijs, A P Somlyo

Carbohydrate deficient glycoprotein (CDG) syndrome type I. av Jaak Jaeken, Gert Matthijs, Rita Barone, Hubert Carchon

How Golgi glycosylation meets and needs trafficking: the case of the COG complex av Ellen Reynders, François Foulquier, Wim Annaert, Gert Matthijs

On the nomenclature of congenital disorders of glycosylation (CDG) av J. Jaeken, Thierry Hennet, Hudson H. Freeze, Gert Matthijs

CDG nomenclature: Time for a change! av Jaak Jaeken, Thierry Hennet, Gert Matthijs, Hudson H. Freeze

Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure av Koenraad Devriendt, Christine Vanhole, Gert Matthijs, Francis de Zegher

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) av Els Schollen, Susanne Kjærgaard, Eric Legius, Marianne Schwartz, Gert Matthijs

High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency) av Stephanie Grünewald, Els Schollen, Emile Van Schaftingen, Jaak Jaeken, Gert Matthijs

Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality av Christian Thiel, Torben Lübke, Gert Matthijs, Kurt Von Figura, Christian Körner

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A av Gert Matthijs, Els Schollen, Emile Van Schaftingen, Jean‐Jacques Cassiman, Jaak Jaeken

Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle. av Bernard Himpens, Gert Matthijs, Avril V. Somlyo, T. M. Butler, A P Somlyo

Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions av Manuela Simoni, Egbert Bakker, Eurlings, Gert Matthijs, Enrico Moro, Müller, Vogt Vogt

A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency av Aimée Paulussen, Adam Raes, Gert Matthijs, Dirk J. Snyders, Nadine Cohen, Jeroen Aerssens

Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature av Eva Van Steijvoort, Davit Chokoshvili, Jeffrey W. Cannon, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry

Golgi function and dysfunction in the first COG4-deficient CDG type II patient av Ellen Reynders, François Foulquier, Elisa Leão Teles, Dulce Quelhas, Willy Morelle, Cathérine Rabouille, Wim Annaert, Gert Matthijs

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing av Simon Ardui, Valérie Race, Alena Zablotskaya, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 av Renate Zeevaert, Francis de Zegher, Luisa Sturiale, Domenico Garozzo, Maria-Helena Smet, Marian Moens, Gert Matthijs, J. Jaeken

Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study av G Michils, Sabine Tejpar, Ronald Thoelen, Eric Van Cutsem, Joris Vermeesch, Jean‐Pierre Fryns, Eric Legius, Gert Matthijs

N-glycosylation as a eukaryotic protective mechanism against protein aggregation av Ramon Duran‐Romaña, Bert Houben, Matthias De Vleeschouwer, Nikolaos Louros, Matthew P. Wilson, Gert Matthijs, Joost Schymkowitz, Fréderic Rousseau

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