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50 publications found

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Group #1

Matched potential author: Gert Matthijs - author of 57 items
TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
Congenital Disorders of Glycosylation in Portugal - Two Decades of Experience[1]Dulce Quelhas PharmaD, [2]Esmeralda Martins, [3]Luísa Azevedo, [4]Anabela Bandeira, [5]Luísa Diogo, [6]Paula Garcia, [7]Sílvia Sequeira, [8]Ana Cristina Ferreira, [9]Elisa Leão Teles, [10]Esmeralda Rodrigues, ..., [21]Valérie Race, [22]Liesbeth Keldermans, [23]Gert Matthijs, [24]Jaak Jaeken [Full author list]The Journal of Pediatrics [missing]DOI: 10.1016/J.JPEDS.2020.12.026 [ORCID]
PubMed: 33340551 [ORCID]
2020-12-16Gert Matthijs (Q87778355; 57 items)
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card[1]Jaak Jaeken, [2]Dirk J Lefeber, [3]Gert Matthijs [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/S41431-020-0647-3 [ORCID]
PubMed: 32424323 [ORCID]
congenital disorder [missing]; congenital disorder of glycosylation [missing]; congenital disorder [missing]2020-05-18Gert Matthijs (Q87778355; 57 items)
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation[1]Leslie Matalonga, [2]Miren Bravo, [3]Carla Serra-Peinado, [4]Elisabeth García-Pelegrí, [5]Olatz Ugarteburu, [6]Silvia Vidal, [7]Maria Llambrich, [8]Ester Quintana, [9]Pedro Fuster-Jorge, [10]Maria Nieves Gonzalez-Bravo, ..., [13]Francisco Garcia-Garcia, [14]François Foulquier, [15]Gert Matthijs, [16]Philippa B Mills, [17]Antonia Ribes, ... [Full author list]Human Mutation [missing]DOI: 10.1002/HUMU.23145 [ORCID]
PubMed: 27862579 [ORCID]
congenital disorder [missing]; glycosylation [missing]; congenital disorder of glycosylation [missing]; Trafficking protein particle complex 11 [missing]; congenital disorder [missing]2017-02-01Gert Matthijs (Q87778355; 57 items)
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II[1]Claire Rosnoblet, [2]Dominique Legrand, [3]Didier Demaegd, [4]Hêla Hacine-Gherbi, [5]Geoffroy de Bettignies, [6]Riet Bammens, [7]Cindy Borrego, [8]Sandrine Duvet, [9]Pierre Morsomme, [10]Gert Matthijs, [11]François Foulquier [Full author list]Human Molecular Genetics [missing]DOI: 10.1093/HMG/DDT146 [ORCID]
PubMed: 23575229 [ORCID]
Transmembrane protein 165 [missing]2013-07-15Gert Matthijs (Q87778355; 57 items)
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells[1]Didier Demaegd, [2]François Foulquier, [3]Anne-Sophie Colinet, [4]Louis Gremillon, [5]Dominique Legrand, [6]Pascal Mariot, [7]Edgar Peiter, [8]Emile Van Schaftingen, [9]Gert Matthijs, [10]Pierre Morsomme [Full author list]Proceedings of the National Academy of Sciences of the United States of America [missing]DOI: 10.1073/PNAS.1219871110 [ORCID]
PubMed: 23569283 [ORCID]
protein family [missing]; regulation of lysosomal lumen pH [missing]; Transmembrane protein 165 [missing]; Putative ribosome biosynthesis protein GDT1 YBR187W [missing]; Ca(2+)/Mn(2+)-transporting P-type ATPase PMR1 YGL167C [missing]; Calcium-transporting ATPase PMC1 YGL006W [missing]2013-04-23Gert Matthijs (Q87778355; 57 items)
TMEM165 deficiency causes a congenital disorder of glycosylation[1]François Foulquier, [2]Mustapha Amyere, [3]Jaak Jaeken, [4]Renate Zeevaert, [5]Els Schollen, [6]Valérie Race, [7]Riet Bammens, [8]Willy Morelle, [9]Claire Rosnoblet, [10]Dominique Legrand, [11]Didier Demaegd, [12]Neil Buist, [13]David Cheillan, [14]Nathalie Guffon, [15]Pierre Morsomme, [16]Willem Annaert, [17]Hudson H. Freeze, [18]Emile Van Schaftingen, [19]Miikka Vikkula, [20]Gert Matthijs [Full author list]American Journal of Human Genetics [missing]DOI: 10.1016/J.AJHG.2012.05.002 [ORCID]
PubMed: 22683087 [ORCID]
congenital disorder [missing]; glycosylation [missing]; congenital disorder of glycosylation [missing]; protein N-linked glycosylation [missing]; Transmembrane protein 165 [missing]; congenital disorder [missing]2012-07-13Gert Matthijs (Q87778355; 57 items)
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)[1]Wendy Vleugels, [2]Sandrine Duvet, [3]Romain Peanne, [4]Anne-Marie Mir, [5]René Cacan, [6]Jean-Claude Michalski, [7]Gert Matthijs, [8]François Foulquier [Full author list]Biochimie [missing]DOI: 10.1016/J.BIOCHI.2011.01.016 [ORCID]
PubMed: 21315133 [ORCID]
2011-02-16Gert Matthijs (Q87778355; 57 items)
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation[1]Florence Molinari, [2]François Foulquier, [3]Patrick S. Tarpey, [4]Willy Morelle, [5]Sarah Boissel, [6]Jon Teague, [7]Sarah Edkins, [8]P. Andrew Futreal, [9]Michael Stratton, [10]Gillian Turner, [11]Gert Matthijs, [12]Jozef Gécz, [13]Arnold Munnich, [14]Laurence Colleaux [Full author list]American Journal of Human Genetics [missing]DOI: 10.1016/J.AJHG.2008.03.021 [ORCID]
PubMed: 18455129 [ORCID]
cognition [missing]; Magnesium transporter 1 [missing]; Tumor suppressor candidate 3 [missing]2008-05-01Gert Matthijs (Q87778355; 57 items)
Erratum: A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia[1]Eva Morava, [2]Renate Zeevaert, [3]Eckhard Korsch, [4]Karin Huijben, [5]Suzan Wopereis, [6]Gert Matthijs, [7]Kathelijn Keymolen, [8]Dirk J Lefeber, [9]Linda De Meirleir, [10]Ron A Wevers [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/SJ.EJHG.5201863 [ORCID]
microcephaly [missing]2007-06-21Gert Matthijs (Q87778355; 57 items)
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway[1]Claire E Hart, [2]Valerie Race, [3]Younes Achouri, [4]Elsa Wiame, [5]Mark Sharrard, [6]Simon Olpin, [7]Jennifer Watkinson, [8]James R Bonham, [9]Jaak Jaeken, [10]Gert Matthijs, [11]Emile Van Schaftingen [Full author list]American Journal of Human Genetics [missing]DOI: 10.1086/517888 [ORCID]
PubMed: 17436247 [ORCID]
2007-05-01Gert Matthijs (Q87778355; 57 items)
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation[1]François Foulquier, [2]Daniel Ungar, [3]Ellen Reynders, [4]Renate Zeevaert, [5]Philippa Mills, [6]Maria Teresa García-Silva, [7]Paz Briones, [8]Bryan Winchester, [9]Willy Morelle, [10]Monty Krieger, [11]Willem Annaert, [12]Gert Matthijs [Full author list]Human Molecular Genetics [missing]DOI: 10.1093/HMG/DDL476 [ORCID]
PubMed: 17220172 [ORCID]
glycosylation [missing]2007-01-12Gert Matthijs (Q87778355; 57 items)
A mammalian protein homologous to fructosamine-3-kinase is a ketosamine-3-kinase acting on psicosamines and ribulosamines but not on fructosamines[1]François Collard, [2]Ghislain Delpierre, [3]Vincent Stroobant, [4]Gert Matthijs, [5]Emile Van Schaftingen [Full author list]Diabetes [missing]DOI: 10.2337/DIABETES.52.12.2888 [ORCID]
PubMed: 14633848 [ORCID]
2003-12-01Gert Matthijs (Q87778355; 57 items)
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia[1]Alexandre Irrthum, [2]Koenraad Devriendt, [3]David Chitayat, [4]Gert Matthijs, [5]Conrad Glade, [6]Peter M Steijlen, [7]Jean-Pierre Fryns, [8]Maurice A M Van Steensel, [9]Miikka Vikkula, [10]Maurice van Steensel [Full author list]American Journal of Human Genetics [missing]DOI: 10.1086/375614 [ORCID]
PubMed: 12740761 [ORCID]
hair cycle process [missing]; SRY-box transcription factor 18 [missing]2003-05-08
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)[1]Els Schollen, [2]Kevin Martens, [3]Elke Geuzens, [4]Gert Matthijs [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/SJ.EJHG.5200858 [ORCID]
PubMed: 12357336 [ORCID]
congenital disorder [missing]; glycosylation [missing]2002-10-01Gert Matthijs (Q87778355; 57 items)
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[1]Vibeke Westphal, [2]Susanne Kjaergaard, [3]Els Schollen, [4]Kevin Martens, [5]Stephanie Grunewald, [6]Marianne Schwartz, [7]Gert Matthijs, [8]Hudson H Freeze [Full author list]Human Molecular Genetics [missing]DOI: 10.1093/HMG/11.5.599 [ORCID]
PubMed: 11875054 [ORCID]
congenital disorder [missing]; glycosylation [missing]; congenital disorder of glycosylation [missing]; congenital disorder of glycosylation type Ia [missing]; congenital disorder [missing]2002-03-01Gert Matthijs (Q87778355; 57 items)

Group #2

TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
Patenting and licensing in genetic testing: ethical, legal, and social issues[1]Sirpa Soini, [2]Ségolène Aymé, [3]Gert Matthijs [Full author list]European Journal of Human Genetics [missing]PubMed: 18557182 [ORCID]
patent [missing]2008-05-01
Introduction[1]Gert Matthijs, [2]Ségolène Aymé [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/EJHG.2008.35 [ORCID]
PubMed: 18432280 [ORCID]
2008-05-01

Group #3

Matched potential author: Gert Matthijs - author of 57 items
TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing[1]Geneviève Michils, [2]Silke Hollants, [3]Luc Dehaspe, [4]Jeroen Van Houdt, [5]Yannick Bidet, [6]Nancy Uhrhammer, [7]Yves-Jean Bignon, [8]Joris R Vermeesch, [9]Harry Cuppens, [10]Gert Matthijs [Full author list]The Journal of Molecular Diagnostics [missing]DOI: 10.1016/J.JMOLDX.2012.05.006 [ORCID]
PubMed: 23034506 [ORCID]
pyrosequencing [missing]; amplicon [missing]2012-09-30Gert Matthijs (Q87778355; 57 items)
Post-zygotic origin of isochromosome 12p[1]Thomy de Ravel, [2]Kathelijn Keymolen, [3]Elvire van Assche, [4]Ingrid Wittevronghel, [5]Philippe Moerman, [6]Ivo Salden, [7]Gert Matthijs, [8]Jean-Pierre Fryns, [9]Joris R Vermeesch [Full author list]Prenatal Diagnosis [missing]DOI: 10.1002/PD.956 [ORCID]
PubMed: 15614858 [ORCID]
2004-12-01Gert Matthijs (Q87778355; 57 items)

Group #4

TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study[1]Tom Thomaes, [2]Martine Thomis, [3]Steven Onkelinx, [4]Robert Fagard, [5]Gert Matthijs, [6]Roselien Buys, [7]Dirk Schepers, [8]Véronique Cornelissen, [9]Luc Vanhees [Full author list]BMC Genetics [missing]DOI: 10.1186/1471-2156-12-84 [ORCID]
PubMed: 21967077 [ORCID]
endophenotype [missing]2011-10-03
The CAREGENE study: genetic variants of the endothelium and aerobic power in patients with coronary artery disease[1]Steven Onkelinx, [2]Veronique Cornelissen, [3]Johan Defoor, [4]Gert Matthijs, [5]Tom Thomaes, [6]Ellen Coeckelberghs, [7]Roselien Buys, [8]Dirk Schepers, [9]Robert Fagard, [10]Luc Vanhees [Full author list]Acta Cardiologica [missing]DOI: 10.1080/AC.66.4.2126586 [ORCID]
PubMed: 21894794 [ORCID]
coronary artery disease [missing]2011-08-01
The CAREGENE study: polymorphisms of the beta1-adrenoceptor gene and aerobic power in coronary artery disease[1]Johan Defoor, [2]Kevin Martens, [3]Dominika Zielińska, [4]Gert Matthijs, [5]Hilde Van Nerum, [6]Dirk Schepers, [7]Robert Fagard, [8]Luc Vanhees [Full author list]European Heart Journal [missing]DOI: 10.1093/EURHEARTJ/EHI737 [ORCID]
PubMed: 16421173 [ORCID]
coronary artery disease [missing]2006-01-18

Group #5

TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
PREPL: a putative novel oligopeptidase propelled into the limelight[1]Kevin Martens, [2]Rita Derua, [3]Sandra Meulemans, [4]Etienne Waelkens, [5]Jaak Jaeken, [6]Gert Matthijs, [7]John W M Creemers [Full author list]Biological Chemistry [missing]DOI: 10.1515/BC.2006.111 [ORCID]
PubMed: 16913837 [ORCID]
2006-07-01
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome[1]Jaak Jaeken, [2]Kevin Martens, [3]Inge Francois, [4]Francois Eyskens, [5]Claudine Lecointre, [6]Rita Derua, [7]Sandra Meulemans, [8]Jerry W Slootstra, [9]Etienne Waelkens, [10]Francis de Zegher, [11]John W M Creemers, [12]Gert Matthijs [Full author list]American Journal of Human Genetics [missing]DOI: 10.1086/498852 [ORCID]
PubMed: 16385448 [ORCID]
hypotonia-cystinuria syndrome [missing]2005-11-23

Group #6

Matched potential author: Gert Matthijs - author of 57 items
TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation[1]Jos C. Jansen, [2]Sebahattin Çırak, [3]Monique van Scherpenzeel, [4]Sharita Timal, [5]Janine Reunert, [6]Stephan Rust, [7]Belén Pérez, [8]Dorothée Vicogne, [9]Peter Krawitz, [10]Yoshinao Wada, ..., [38]Ron A. Wevers, [39]Eva Morava, [40]Gert Matthijs, [41]François Foulquier, [42]Thorsten Marquardt, ... [Full author list]American Journal of Human Genetics [missing]DOI: 10.1016/J.AJHG.2015.12.010 [ORCID]
PubMed: 26833332 [ORCID]
glycosylation [missing]; Coiled-coil domain containing 115 [missing]2016-02-04Gert Matthijs (Q87778355; 57 items)
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[1]Michael Butler, [2]D Quelhas, [3]Alison J Critchley, [4]Hubert Carchon, [5]Holger F Hebestreit, [6]Richard G Hibbert, [7]Laura Vilarinho, [8]E Teles, [9]Gert Matthijs, [10]Els Schollen, [11]Pablo Argibay, [12]David J Harvey, [13]Raymond A Dwek, [14]Jaak Jaeken, [15]Pauline M Rudd [Full author list]Glycobiology [missing]DOI: 10.1093/GLYCOB/CWG079 [ORCID]
PubMed: 12773475 [ORCID]
congenital disorder [missing]; glycosylation [missing]2003-05-28Gert Matthijs (Q87778355; 57 items)

Group #7

Matched potential author: Gert Matthijs - author of 57 items
TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings[1]Matthew Wilson, [2]Alejandro Garanto, [3]Filippo Pinto E Vairo, [4]Bobby G Ng, [5]Wasantha K Ranatunga, [6]Marina Ventouratou, [7]Melissa Baerenfaenger, [8]Karin Huijben, [9]Christian Thiel, [10]Angel Ashikov, ..., [31]Jaak Jaeken, [32]Hudson H Freeze, [33]Gert Matthijs, [34]Eva Morava, [35]Dirk J Lefeber [Full author list]American Journal of Human Genetics [missing]DOI: 10.1016/J.AJHG.2021.09.012 [ORCID]
PubMed: 34653363 [ORCID]
2021-10-14Gert Matthijs (Q87778355; 57 items)
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)[1]Fabio Pettinato, [2]Giovanni Mostile, [3]Roberta Battini, [4]Diego Martinelli, [5]Annalisa Madeo, [6]Elisa Biamino, [7]Daniele Frattini, [8]Domenico Garozzo, [9]Serena Gasperini, [10]Rossella Parini, [11]Fabio Sirchia, [12]Giuseppe Sortino, [13]Luisa Sturiale, [14]Gert Matthijs, [15]Amelia Morrone, [16]Maja Di Rocco, [17]Renata Rizzo, [18]Jaak Jaeken, [19]Agata Fiumara, [20]Rita Barone [Full author list]The Cerebellum [missing]DOI: 10.1007/S12311-021-01242-X [ORCID]
2021-02-22Gert Matthijs (Q87778355; 57 items)

Group #8

Matched potential author: Gert Matthijs - author of 57 items
TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome[1]Johan L K Van Hove, [2]Jaak Jaeken, [3]Marijke Proesmans, [4]Kris De Boeck, [5]Kristin Minner, [6]Gert Matthijs, [7]Eric Verbeken, [8]Anouk Demunter, [9]Marc Boogaerts [Full author list]American Journal of Medical Genetics [missing]DOI: 10.1002/AJMG.A.30430 [ORCID]
PubMed: 15558713 [ORCID]
Rothmund-Thomson syndrome [missing]; poikiloderma with neutropenia [missing]2005-01-01Gert Matthijs (Q87778355; 57 items)
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome[1]Johan L K Van Hove, [2]Ron A. Wevers, [3]Johan Van Cleemput, [4]Philippe Moerman, [5]Raf Sciot, [6]Gert Matthijs, [7]Els Schollen, [8]Jan G N de Jong, [9]William F Carey, [10]Viv Muller, [11]Cath Nicholls, [12]Kelly Perkins, [13]John J Hopwood [Full author list]American Journal of Medical Genetics [missing]DOI: 10.1002/AJMG.A.20068 [ORCID]
PubMed: 12687673 [ORCID]
cardiomyopathy [missing]2003-05-01Gert Matthijs (Q87778355; 57 items)

Group #9

TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
A clearing house for diagnostic testing: the solution to ensure access to and use of patented genetic inventions?[1]Esther van Zimmeren, [2]Birgit Verbeure, [3]Gert Matthijs, [4]Geertrui Van Overwalle [Full author list]Bulletin of the World Health Organization [missing]DOI: 10.2471/BLT.06.030445 [ORCID]
PubMed: 16710543 [ORCID]
patent [missing]2006-05-17
Models for facilitating access to patents on genetic inventions[1]Geertrui Van Overwalle, [2]Esther van Zimmeren, [3]Birgit Verbeure, [4]Gert Matthijs [Full author list]Nature Reviews Genetics [missing]DOI: 10.1038/NRG1765 [ORCID]
PubMed: 16385347 [ORCID]
2006-02-01

Misc

Matched potential author: Gert Matthijs - author of 57 items
TitleAuthors (identified)Published InIdentifier(s)TopicPublished DateMatch?
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation[1]Laureline Lepais, [2]David Cheillan, [3]Sophie Collardeau Frachon, [4]Stéphane Hays, [5]Gert Matthijs, [6]Eleni Panagiotakaki, [7]Carine Abel, [8]Patrick Edery, [9]Massimiliano Rossi [Full author list]American Journal of Medical Genetics [missing]DOI: 10.1002/AJMG.A.37232 [ORCID]
PubMed: 26126960 [ORCID]
sibling [missing]; Electroencephalography [missing]; chondrodysplasia punctata [missing]; congenital disorder of glycosylation Id [missing]2015-06-30
Global implementation of genomic medicine: We are not alone[1]Teri Manolio, [2]Marc Abramowicz, [21-Q41653574]Surakameth Mahasirimongkol, [3]Fahd Al-mulla, [4]Warwick Anderson, [5]Rudi Balling, [6]Adam C Berger, [7]Steven Bleyl, [8]Aravinda Chakravarti, [9]Wasun Chantratita, [10]Rex L. Chisholm, ..., [21]Surakameth Mahasirimongkol, [22]Partha P Majumdar, [23]Gert Matthijs, [24]Howard L McLeod, [25]Andres Metspalu, ... [Full author list]Science Translational Medicine [missing]DOI: 10.1126/SCITRANSLMED.AAB0194 [ORCID]
PubMed: 26041702 [ORCID]
2015-06-03Gert Matthijs (Q87778355; 57 items)
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption[1]Anders Helander, [2]Jaak Jaeken, [3]Gert Matthijs, [4]Gösta Eggertsen [Full author list]Clinica Chimica Acta [missing]DOI: 10.1016/J.CCA.2014.01.018 [ORCID]
PubMed: 24508628 [ORCID]
2014-02-06
DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype[1]Ignacio Arroyo Carrera, [2]Gert Matthijs, [3]Belen Perez, [4]Celia Pérez Cerdá [Full author list]American Journal of Medical Genetics [missing]DOI: 10.1002/AJMG.A.35472 [ORCID]
PubMed: 22786653 [ORCID]
phenotype [missing]2012-07-11
A standardized framework for the validation and verification of clinical molecular genetic tests[1]Christopher J Mattocks, [2]Michael A Morris, [3]Gert Matthijs, [4]Elfriede Swinnen, [5]Anniek Corveleyn, [6]Els Dequeker, [7]Clemens R Müller, [8]Victoria Pratt, [9]Andrew Wallace [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/EJHG.2010.101 [ORCID]
PubMed: 20664632 [ORCID]
2010-12-01Gert Matthijs (Q87778355; 57 items)
Legal uncertainty in the area of genetic diagnostic testing[1]Isabelle Huys, [2]Nele Berthels, [3]Gert Matthijs, [4]Geertrui Van Overwalle [Full author list]Nature Biotechnology [missing]DOI: 10.1038/NBT1009-903 [ORCID]
PubMed: 19816443 [ORCID]
2009-10-01
From glycosylation to glycosylation diseases[1]Jaak Jaeken, [2]Gert Matthijs [Full author list]Biochimica et Biophysica Acta [missing]DOI: 10.1016/J.BBADIS.2009.08.003 [ORCID]
PubMed: 19765533 [ORCID]
2009-09-01
A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function[1]Maurits Demedts, [2]Willy Lissens, [3]Wim Wuyts, [4]Gert Matthijs, [5]Michiel Thomeer, [6]Roger Bouillon [Full author list]American Journal of Respiratory and Critical Care Medicine [missing]DOI: 10.1164/AJRCCM.177.5.558 [ORCID]
PubMed: 18296474 [ORCID]
interstitial lung disease [missing]2008-03-01
The impact of patenting on DNA diagnostic practice[1]Gert Matthijs, [2]Shirley Hodgson [Full author list]Clinical Medicine [missing]DOI: 10.7861/CLINMEDICINE.8-1-58 [ORCID]
PubMed: 18335671 [ORCID]
2008-02-01
Epilepsy as part of the phenotype associated with ATP1A2 mutations[1]Liesbet Deprez, [2]Sarah Weckhuysen, [3]Katelijne Peeters, [4]Tine Deconinck, [5]Kristl G Claeys, [6]Lieve R F Claes, [7]Arvid Suls, [8]Tine Van Dyck, [9]André Palmini, [10]Gert Matthijs, [11]Wim Van Paesschen, [12]Peter De Jonghe [Full author list]Epilepsia [missing]DOI: 10.1111/J.1528-1167.2007.01415.X [ORCID]
PubMed: 18028407 [ORCID]
phenotype [missing]2007-11-19
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[1]Els Schollen, [2]Elisabeth Dequeker, [3]Shirley McQuaid, [4]Bruno Vankeirsbilck, [5]Geneviève Michils, [6]John Harvey, [7]Eric van den Akker, [8]Ron van Schooten, [9]Zandra Clark, [10]Stephan Schrooten, [11]Gert Matthijs, [12]DDQA Collaborative Group [Full author list]Human Mutation [missing]DOI: 10.1002/HUMU.20182 [ORCID]
PubMed: 15880509 [ORCID]
2005-06-01Gert Matthijs (Q87778355; 57 items)
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema[1]Vera Noelle, [2]Matthias Knuepfer, [3]Ferdinand Pulzer, [4]Volker Schuster, [5]Werner Siekmeyer, [6]Gert Matthijs, [7]Christoph Vogtmann [Full author list]European Journal of Pediatrics [missing]DOI: 10.1007/S00431-004-1611-X [ORCID]
PubMed: 15645285 [ORCID]
thrombocytopenia [missing]; congenital disorder [missing]; glycosylation [missing]; congenital disorder of glycosylation [missing]; hypertrophic cardiomyopathy [missing]; congenital disorder [missing]2005-01-12
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)[1]Juliette Albuisson, [2]Chistophe Pêcheux, [3]Jean-Claude Carel, [4]Didier Lacombe, [5]Bruno Leheup, [6]Pablo Lapuzina, [7]Philippe Bouchard, [8]Eric Legius, [9]Gert Matthijs, [10]Malgorzata Wasniewska, [11]Marc Delpech, [12]Jacques Young, [13]Jean-Pierre Hardelin, [14]Catherine Dodé [Full author list]Human Mutation [missing]DOI: 10.1002/HUMU.9298 [ORCID]
PubMed: 15605412 [ORCID]
Kallmann syndrome [missing]2005-01-01
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes[1]Blanka Stibůrková, [2]Jacek Majewski, [3]Kateřina Hodaňová, [4]Lenka Ondrová, [5]Markéta Jerábková, [6]Marie Zikánová, [7]Petr Vylet'al, [8]Ivan Sebesta, [9]Anthony Marinaki, [10]Anne Simmonds, [11]Gert Matthijs, [12]Jean-Pierre Fryns, [13]Rosa Torres, [14]Juan García Puig, [15]Jurg Ott, [16]Stanislav Kmoch [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/SJ.EJHG.5200937 [ORCID]
PubMed: 12634862 [ORCID]
familial juvenile gout [missing]2003-02-01
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles[1]Sarah L Nolin, [10]Elke Holinski-Feder, [11]Frank Kooy, [12]John Longshore, [13]James Macpherson, [14]Jean-Louis Mandel, [15]Gert Matthijs, [15-Q30500553]Helle Hjalgrim, [2]W Ted Brown, [3]Anne Glicksman, [4]George E Houck, [5]Alice D Gargano, [6]Amy Sullivan, [7]Valérie Biancalana, [8]Karen Bröndum-Nielsen, [16]Francois Rousseau, [17]Peter Steinbach, [18]Marja-Leena Väisänen, [19]Harriet von Koskull, [20]Stephanie L Sherman [Full author list]American Journal of Human Genetics [missing]DOI: 10.1086/367713 [ORCID]
PubMed: 12529854 [ORCID]
2003-02-01
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A[1]Aimée Paulussen, [2]Gert Matthijs, [3]Marc Gewillig, [4]Peter Verhasselt, [5]Nadine Cohen, [6]Jeroen Aerssens [Full author list]Genetic Testing and Molecular Biomarkers [missing]DOI: 10.1089/109065703321560958 [ORCID]
PubMed: 12820704 [ORCID]
congenital disorder [missing]2003-01-01
European-wide opposition against the breast cancer gene patents[1]Gert Matthijs, [2]Dicky Halley [Full author list]European Journal of Human Genetics [missing]DOI: 10.1038/SJ.EJHG.5200924 [ORCID]
PubMed: 12461683 [ORCID]
2002-12-01
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation[1]Kathleen Freson, [2]Gert Matthijs, [3]Chantal Thys, [4]Paul Mariën, [5]Marc F Hoylaerts, [6]Jos Vermylen, [7]Chris Van Geet [Full author list]Human Molecular Genetics [missing]DOI: 10.1093/HMG/11.2.147 [ORCID]
PubMed: 11809723 [ORCID]
lead [missing]; Giant platelet disorder [missing]2002-01-01

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NameDescriptionAuthored itemsIdentifiersEmployer(s)
Gert Matthijsresearcher57ORCID: 0000-0001-6710-1912
Gert Matthijsbelgický vysokoškolský učitel, zabývá se genetikou a molekulární diagnostikou1VIAF ID: 15993880
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