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Guy FROYEN
Guy FROYEN
未知所在单位机构
在 uhasselt.be 的电子邮件经过验证
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引用次数
引用次数
年份
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch, M Bauters, J Ignatius, M Jansen, M Raynaud, K Hollanders, ...
The American Journal of Human Genetics 77 (3), 442-453, 2005
7002005
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
I Lahortiga, K De Keersmaecker, P Van Vlierberghe, C Graux, ...
Nature genetics 39 (5), 593-595, 2007
3122007
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
3112016
A screening study of surface stabilization during the production of drug nanocrystals
B Van Eerdenbrugh, J Vermant, JA Martens, L Froyen, J Van Humbeeck, ...
Journal of pharmaceutical sciences 98 (6), 2091-2103, 2009
2762009
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, ...
The American Journal of Human Genetics 82 (2), 432-443, 2008
2462008
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
S Carmi, KY Hui, E Kochav, X Liu, J Xue, F Grady, S Guha, K Upadhyay, ...
Nature communications 5 (1), 4835, 2014
2002014
Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes
G Froyen, H Van Esch, M Bauters, K Hollanders, SGM Frints, ...
Human mutation 28 (10), 1034-1042, 2007
2002007
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
JR Vermeesch, C Melotte, G Froyen, S Van Vooren, B Dutta, N Maas, ...
Journal of Histochemistry & Cytochemistry 53 (3), 413-422, 2005
1972005
Human monocyte chemotactic protein-3 (MCP-3): molecular cloning of the cDNA and comparison with other chemokines
G Opdenakker, G Froyen, P Fiten, P Proost, J Vandamme
Biochemical and biophysical research communications 191 (2), 535-542, 1993
1661993
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16. 3 deletions enables refinement of the genotype-phenotype map
G Van Buggenhout, C Melotte, B Dutta, G Froyen, P Van Hummelen, ...
Journal of Medical Genetics 41 (9), 691-698, 2004
1582004
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior
SGM Frints, P Marynen, D Hartmann, JP Fryns, J Steyaert, M Schachner, ...
Human Molecular Genetics 12 (13), 1463-1474, 2003
1542003
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
M Bauters, H Van Esch, MJ Friez, O Boespflug-Tanguy, M Zenker, ...
Genome research 18 (6), 847-858, 2008
1502008
Granulocyte chemotactic protein-2 and related CXC chemokines: from gene regulation to receptor usage
J Van Damme, A Wuyts, G Froyen, E Van Coillie, S Struyf, A Billiau, ...
Journal of leukocyte biology 62 (5), 563-569, 1997
1401997
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Y Wu, AC Arai, G Rumbaugh, AK Srivastava, G Turner, T Hayashi, ...
Proceedings of the National Academy of Sciences 104 (46), 18163-18168, 2007
1332007
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
H Van Esch, K Hollanders, L Badisco, C Melotte, P Van Hummelen, ...
Human molecular genetics 14 (13), 1795-1803, 2005
1252005
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium
APM de Brouwer, HG Yntema, T Kleefstra, D Lugtenberg, AR Oudakker, ...
Human mutation 28 (2), 207-208, 2007
1182007
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
L Huang, LA Jolly, S Willis-Owen, A Gardner, R Kumar, E Douglas, ...
The American Journal of Human Genetics 91 (4), 694-702, 2012
1172012
X‐linked mental retardation: vanishing boundaries between non‐specific (MRX) and syndromic (MRXS) forms
SGM Frints, G Froyen, P Marynen, JP Fryns
Clinical genetics 62 (6), 423-432, 2002
1152002
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
H Hu, K Wrogemann, V Kalscheuer, A Tzschach, H Richard, SA Haas, ...
The HUGO journal 3, 41-49, 2009
1142009
Identification of intellectual disability genes in female patients with a skewed X‐inactivation pattern
N Fieremans, H Van Esch, M Holvoet, G Van Goethem, K Devriendt, ...
Human mutation 37 (8), 804-811, 2016
1022016
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