Guy Froyen

Guy Froyen

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Guy Froyen

Guy Froyen

Publications by authors named "Guy Froyen"

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Clinical Validation of Targeted Solid Tumor Profiling.

Methods Mol Biol 2019 ;1908:73-87

Laboratory for Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, Hasselt, Belgium.

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http://dx.doi.org/10.1007/978-1-4939-9004-7_6DOI Listing
June 2019

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.

BMC Med Genomics 2018 Dec 19;11(1):123. Epub 2018 Dec 19.

Department of Human Genetics and Center for Human Genetics, Laboratory for Cytogenetics and Genome Research, University Hospitals Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1186/s12920-018-0446-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299999PMC
December 2018

Prognostic Biomarkers in the Progression From MGUS to Multiple Myeloma: A Systematic Review.

Clin Lymphoma Myeloma Leuk 2018 04 17;18(4):235-248. Epub 2018 Feb 17.

Department of Experimental Hematology, Jessa Hospital, Hasselt, Belgium; Faculty of Medicine and Life Sciences, Hasselt University, Hasselt, Belgium; University Biobank Limburg (UBiLim) and Biobank Jessa, Hasselt, Belgium; Department of Clinical Biology, Jessa Hospital, Hasselt, Belgium.

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http://dx.doi.org/10.1016/j.clml.2018.02.011DOI Listing
April 2018

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Eur J Med Genet 2015 May 7;58(5):324-7. Epub 2015 Apr 7.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150006
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http://dx.doi.org/10.1016/j.ejmg.2015.03.003DOI Listing
May 2015

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Eur J Hum Genet 2015 Apr 16;23(4):551-4. Epub 2014 Jul 16.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666577PMC
April 2015

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

EMBO Mol Med 2015 Apr;7(4):423-37

VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium Program in Molecular and Developmental Genetics, Doctoral School of Biomedical Sciences, University of Leuven, Leuven, Belgium

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http://dx.doi.org/10.15252/emmm.201404576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403044PMC
April 2015

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Am J Med Genet A 2014 Aug 15;164A(8):1947-52. Epub 2014 Apr 15.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium; Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.36580
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http://dx.doi.org/10.1002/ajmg.a.36580DOI Listing
August 2014

Large-scale analysis of tandem repeat variability in the human genome.

Nucleic Acids Res 2014 May 20;42(9):5728-41. Epub 2014 Mar 20.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium Human Genome Laboratory, Department of Human Genetics, KU Leuven, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1093/nar/gku212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027155PMC
May 2014

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Hum Mutat 2014 Mar 13;35(3):350-5. Epub 2014 Jan 13.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium; Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22498DOI Listing
March 2014

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

A longer tracheal occlusion period results in increased lung growth in the nitrofen rat model.

Prenat Diagn 2012 Jan 3;32(1):39-44. Epub 2011 Nov 3.

Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospital Gasthuisberg, Herestraat 49, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.2881DOI Listing
January 2012

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Pediatrics 2011 Oct 19;128(4):e1029-33. Epub 2011 Sep 19.

Molecular Genetics Laboratory, Department of Biochemistry, Cruces Hospital, 48903 Barakaldo, Bizkaia, Spain.

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http://dx.doi.org/10.1542/peds.2010-0388DOI Listing
October 2011

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Am J Med Genet A 2010 Feb;152A(2):305-12

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33198DOI Listing
February 2010

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

Am J Med Genet A 2008 Mar;146A(5):593-600

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.32186DOI Listing
March 2008

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Eur J Hum Genet 2007 Oct 20;15(10):1094-7. Epub 2007 Jun 20.

Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201878DOI Listing
October 2007

PAK3 related mental disability: further characterization of the phenotype.

Am J Med Genet A 2007 Oct;143A(20):2406-16

Department of Medical Genetics, Family Federation of Finland, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.31956DOI Listing
October 2007

Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia.

Nat Genet 2007 May 15;39(5):593-5. Epub 2007 Apr 15.

Human Genome Laboratory, Department of Molecular and Developmental Genetics, Vlaams Instituut voor Biotechnologie (VIB), Leuven, Belgium.

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http://dx.doi.org/10.1038/ng2025DOI Listing
May 2007

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Am J Med Genet A 2007 Feb;143(4):364-9

Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31572DOI Listing
February 2007

X-linked mental retardation and epigenetics.

J Cell Mol Med 2006 Oct-Dec;10(4):808-25

Human Genome Laboratory, VIB, Department Molecular and Developmental Genetics, University of Leuven, Leuven, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933076PMC
http://dx.doi.org/10.1111/j.1582-4934.2006.tb00526.xDOI Listing
January 2007

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Am J Med Genet A 2005 Dec;139(3):221-6

Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30991DOI Listing
December 2005

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

Eur J Med Genet 2005 Jul-Sep;48(3):263-75

Human Genome Laboratory, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.008DOI Listing
November 2005

Clinical study and haplotype analysis in two brothers with Partington syndrome.

Am J Med Genet 2002 Nov;112(4):361-8

Human Genome Laboratory, Flanders Interuniversity Institute for Biotechnology, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.10630DOI Listing
November 2002