Resultados da pesquisa - Gert Matthijs

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  1. 1
    Congenital Disorders of Glycosylation: A Review

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

    Publicado em 2002
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  2. 2
    Desensitization to cytoplasmic Ca2+ and Ca2+ sensitivities of guinea‐pig ileum and rabbit pulmonary artery smooth muscle.

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

    Publicado em 1989
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  3. 3
    Carbohydrate deficient glycoprotein (CDG) syndrome type I.

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

    Publicado em 1997
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  4. 4
    How Golgi glycosylation meets and needs trafficking: the case of the COG complex

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

    Publicado em 2010
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  5. 5
    On the nomenclature of congenital disorders of glycosylation (CDG)

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

    Publicado em 2008
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  6. 6
    CDG nomenclature: Time for a change!

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

    Publicado em 2009
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  7. 7
    Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

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

    Publicado em 1998
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  8. 8
    Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

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

    Publicado em 2000
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  9. 9
    High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)

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

    Publicado em 2001
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  10. 10
    Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality

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

    Publicado em 2006
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  11. 11
    Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A

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

    Publicado em 1998
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  12. 12
    Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle.

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

    Publicado em 1988
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  13. 13
    Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions

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

    Publicado em 1999
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  14. 14
    A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency

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

    Publicado em 2002
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  15. 15
    Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

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

    Publicado em 2020
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  16. 16
    Golgi function and dysfunction in the first COG4-deficient CDG type II patient

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

    Publicado em 2009
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  17. 17
    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

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

    Publicado em 2016
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  18. 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

    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 Por Renate Zeevaert, Francis de Zegher, Luisa Sturiale, Domenico Garozzo, Maria-Helena Smet, Marian Moens, Gert Matthijs, J. Jaeken

    Publicado em 2012
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  19. 19
    Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

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

    Publicado em 2005
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  20. 20
    N-glycosylation as a eukaryotic protective mechanism against protein aggregation

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

    Publicado em 2024
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