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Displaying 1 - 25 of 32 results.

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    • Journal article
    The prenatal diagnosis of congenital disorders of glycosylation (CDG).
    Matthijs, Gert Schollen, Els Van Schaftingen, Emile[UCL] (2004) Prenatal diagnosis — Vol. 24, no. 2, p. 114-6 (2004)
    • Journal article
    SLC37A4-CDG: Second patient.
    Wilson, Matthew P Quelhas, Dulce Leão-Teles, Elisa Sturiale, Luisa Rymen, Daisy Keldermans, Liesbeth Race, Valérie Souche, Erika Rodrigues, Esmeralda Campos, Teresa Van Schaftingen, Emile[UCL] Foulquier, François Garozzo, Domenico Matthijs, Gert Jaeken, Jaak (2021) JIMD reports — Vol. 58, no.1, p. 122-128 (2021)
    • Journal article
    Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype
    Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak Goyens, Philippe (2012) JIMD reports — Vol. 4, p. 103-108 (2012)
    • Journal article
    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation.
    Foulquier, François Amyere, Mustapha Jaeken, Jaak Zeevaert, Renate Schollen, Els Race, Valérie Bammens, Riet Morelle, Willy Rosnoblet, Claire Legrand, Dominique Demaegd, Didier[UCL] Buist, Neil Cheillan, David Guffon, Nathalie Morsomme, Pierre[UCL] Annaert, Willem Freeze, Hudson H Van Schaftingen, Emile Vikkula, Miikka Matthijs, Gert (2012) American Journal of Human Genetics — Vol. 91, no. 1, p. 15-26 (2012)
    • Journal article
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
    Jansen, Jos C. Cirak, Sebahattin van Scherpenzeel, Monique Timal, Sharita Reunert, Janine Rust, Stephan Pérez, Belén Vicogne, Dorothée Krawitz, Peter Wada, Yoshinao Ashikov, Angel Pérez-Cerdá, Celia Medrano, Celia Arnoldy, Andrea Hoischen, Alexander Huijben, Karin Steenbergen, Gerry Quelhas, Dulce Diogo, Luisa Rymen, Daisy Jaeken, Jaak Guffon, Nathalie Cheillan, David van den Heuvel, Lambertus P. Maeda, Yusuke Kaiser, Olaf Schara, Ulrike Gerner, Patrick van den Boogert, Marjolein A.W. Holleboom, Adriaan G. Nassogne, Marie-Cécile[UCL] Sokal, Etienne[UCL] Salomon, Jody van den Bogaart, Geert Drenth, Joost P.H. Huynen, Martijn A. Veltman, Joris A. Wevers, Ron A. Morava, Eva Matthijs, Gert Foulquier, François Marquardt, Thorsten Lefeber, Dirk J. (2016) American Journal of Human Genetics — Vol. 98, no.2, p. 310-321 (2016)
    • Journal article
    Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
    Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)
    • Journal article
    Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
    Irrthum, Alexandre[UCL] Devriendt, Koenraad Chitayat, David Matthijs, Gert Glade, Conrad Steijlen, Peter M Fryns, Jean-Pierre Van Steensel, Maurice A M Vikkula, Miikka[UCL] (2003) American journal of human genetics — Vol. 72, no. 6, p. 1470-1478 (2003)
    • BookChapter
    Phosphomannomutases (PMM Genes)
    Matthijs, Gert Van Schaftingen, Emile[UCL] (2002) Wiley encyclopedia of molecular medicine — [ISBN : 9780471374947]
    • Journal article
    MAN1B1 deficiency: an unexpected CDG-II.
    Rymen, Daisy Peanne, Romain Millón, María B Race, Valérie Sturiale, Luisa Garozzo, Domenico Mills, Philippa Clayton, Peter Asteggiano, Carla G Quelhas, Dulce Cansu, Ali Martins, Esmeralda Nassogne, Marie-Cécile[UCL] Gonçalves-Rocha, Miguel Topaloglu, Haluk Jaeken, Jaak Foulquier, François Matthijs, Gert (2013) PLoS Genetics — Vol. 9, no.12, p. e1003989 (2013)
    • Journal article
    Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
    Matthijs, Gert Schollen, Els Pardon, Els Veiga-da-Cunha, Maria[UCL] Jaeken, Jaak Cassiman, Jean-Jacques Van Schaftingen, Emile[UCL] (1997) Nature Genetics — Vol. 16, no. 1, p. 88-92 (1997)
    • Journal article
    Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
    Pirard, Michèle[UCL] Matthijs, Gert Heykants, Leen Schollen, Els Grünewald, Stephanie Jaeken, Jaak Van Schaftingen, Emile[UCL] (1999) FEBS letters — Vol. 452, no. 3, p. 319-22 (1999)
    • Journal article
    Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.
    Pirard, Michel[UCL] Achouri, Younes[UCL] Collet, Jean-François[UCL] Schollen, Els Matthijs, Gert Van Schaftingen, Emile[UCL] (1999) The Biochemical journal — Vol. 339 ( Pt 1), p. 201-7 (1999)
    • Journal article
    Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
    Mbayabo, Gloire Lumbala Kabuyi, Paul Ngole, Mamy Lumaka, Aimé Race, Valerie Maisin, Diane[UCL] Gruson, Damien[UCL] Matthijs, Gert Minga, Tite Mikobi Devriendt, Koenraad Van Geet, Chris Tshilobo, Prosper Lukusa (2022) Journal of clinical laboratory analysis — Vol. 36, no.8, p. e24593 [1-6] (2022)
    • Journal article
    Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
    Balikova, Irina Martens, Kevin Melotte, Cindy Amyere, Mustapha[UCL] Van Vooren, Steven Moreau, Yves Vetrie, David Fiegler, Heike Carter, Nigel P Liehr, Thomas Vikkula, Miikka[UCL] Matthijs, Gert Fryns, Jean-Pierre Casteels, Ingele Devriendt, Koen Vermeesch, Joris Robert (2008) American journal of human genetics — Vol. 82, no. 1, p. 181-7 (2008)
    • Journal article
    A mammalian protein homologous to fructosamine-3-kinase is a ketosamine-3-kinase acting on psicosamines and ribulosamines but not on fructosamines.
    Collard, François[UCL] Delpierre, Ghislain[UCL] Stroobant, Vincent Matthijs, Gert Van Schaftingen, Emile[UCL] (2003) Diabetes — Vol. 52, no. 12, p. 2888-95 (2003)
    • Journal article
    Multiple phenotypes in phosphoglucomutase 1 deficiency.
    Tegtmeyer, Laura C Rust, Stephan van Scherpenzeel, Monique Ng, Bobby G Losfeld, Marie-Estelle Timal, Sharita Raymond, Kimiyo He, Ping Ichikawa, Mie Veltman, Joris Huijben, Karin Shin, Yoon S Sharma, Vandana Adamowicz, Maciej Lammens, Martin Reunert, Janine Witten, Anika Schrapers, Esther Matthijs, Gert Jaeken, Jaak Rymen, Daisy Stojkovic, Tanya Laforêt, Pascal Petit, François Aumaître, Olivier Czarnowska, Elzbieta Piraud, Monique Podskarbi, Teodor Stanley, Charles A Matalon, Reuben Burda, Patricie Seyyedi, Soraya Debus, Volker Socha, Piotr Sykut-Cegielska, Jolanta van Spronsen, Francjan de Meirleir, Linda Vajro, Pietro DeClue, Terry Ficicioglu, Can Wada, Yoshinao Wevers, Ron A Vanderschaeghe, Dieter Callewaert, Nico Fingerhut, Ralph Van Schaftingen, Emile[UCL] Freeze, Hudson H Morava, Eva Lefeber, Dirk J Marquardt, Thorsten (2014) New England Journal of Medicine — Vol. 370, no.6, p. 533-42 (2014)
    • BookChapter
    Phosphomannomutase
    Matthijs, Gert Van Schaftingen, Emile[UCL] (2002) Handbook of Glycosyltransferases and Their related Genes — [ISBN : 978-4-431-67877-9]
    • Journal article
    Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.
    Demaegd, Didier[UCL] Foulquier, François Colinet, Anne-Sophie[UCL] Gremillon, Louis Legrand, Dominique Mariot, Pascal Peiter, Edgar Van Schaftingen, Emile[UCL] Matthijs, Gert Morsomme, Pierre[UCL] (2013) Proceedings of the National academy of sciences of the United States of America — Vol. 110, no.17, p. 6859-64 (2013)
    • Journal article
    PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13
    Matthijs, Gert Schollen, Els Pirard, Michel[UCL] Budarf, Marcia L.. Van Schaftingen, Emile[UCL] Cassiman, Jean-Jacques (1997) Genomics — Vol. 40, no. 1, p. 41-47 (1997)
    • BookChapter
    Defects of N-Glycan Synthesis
    Jaeken, Jaak Matthijs, Gert Carchon, Hubert Van Schaftingen, Emile[UCL] (2001) The metabolic and molecular bases of inherited disease — [ISBN : 0-07-913035-6]
    • Journal article
    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
    Wilson, Matthew P Kentache, Takfarinas[UCL] Althoff, Charlotte R Schulz, Céline de Bettignies, Geoffroy Mateu Cabrera, Gisèle Cimbalistiene, Loreta Burnyte, Birute Yoon, Grace Costain, Gregory Vuillaumier-Barrot, Sandrine Cheillan, David Rymen, Daisy Rychtarova, Lucie Hansikova, Hana Bury, Marina[UCL] Dewulf, Joseph P.[UCL] Caligiore, Francesco[UCL] Jaeken, Jaak Cantagrel, Vincent Van Schaftingen, Emile[UCL] Matthijs, Gert Foulquier, François Bommer, Guido[UCL] (2024) Cell — Vol. 187, no.-, p. 1-17 (2024)
    • Journal article
    Congenital disorders of glycosylation (CDG): Quo vadis?
    Péanne, Romain de Lonlay, Pascale Foulquier, François Kornak, Uwe Lefeber, Dirk J Morava, Eva Pérez, Belén Seta, Nathalie Thiel, Christian Van Schaftingen, Emile[UCL] Matthijs, Gert Jaeken, Jaak (2018) European journal of medical genetics — Vol. 61, no.11, p. 643-663 (2018)
    • Speech
    Deficiency of subunit 6 of the conserved oligomeric golgi complex (COG6-CDG): second patient, different phenotype
    Goyens, Philippe Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak (2012) Annual Symposium of the Society for the Study of Inborn Errors of Metabolism — (United Kingdom) Birmingham
    • Journal article
    Patient with confirmed leopard syndrome developing multiple myeloma
    Colmant, Caroline Franck, Deborah Marot, Liliane[UCL] Matthijs, Gert Sznajer, Yves[UCL] Blomme, Sandrine Tromme, Isabelle[UCL] (2018) Dermatology Practical & Conceptual — Vol. 8, no.1, p. 59-62 (2018)
    • Journal article
    Manganese-induced turnover of TMEM165
    Potelle, Sven Dulary, Eudoxie[UCL] Climer, Leslie Duvet, Sandrine Morelle, Willy[UCL] Vicogne, Dorothée[UCL] Lebredonchel, Elodie[UCL] Houdou, Marine[UCL] Spriet, Corentin[UCL] Krzewinski-Recchi, Marie-Ange[UCL] Peanne, Romain Klein, André de Bettignies, Geoffroy[UCL] Morsomme, Pierre[UCL] Matthijs, Gert Marquardt, Thorsten Lupashin, Vladimir Foulquier, François (2017) Biochemical Journal — Vol. 474, p. 1481-1493

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