Raymon Vijzelaar

Raymon Vijzelaar

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Raymon Vijzelaar

Raymon Vijzelaar

Publications by authors named "Raymon Vijzelaar"

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Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.

Pharmacogenomics 2019 Jan 6;20(1):9-20. Epub 2018 Dec 6.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.2217/pgs-2018-0135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563015PMC
January 2019

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.

Pharmacogenomics 2018 06 23;19(9):761-770. Epub 2018 May 23.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.2217/pgs-2018-0047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021911PMC
June 2018

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Mol Genet Metab 2016 12 27;119(4):329-337. Epub 2016 Oct 27.

Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Via Gaslini 5, 16147 Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.10.008DOI Listing
December 2016

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

J Clin Endocrinol Metab 2016 06 22;101(6):2545-53. Epub 2016 Mar 22.

Institutes of Metabolism and Systems Research (J.I., A.E.T., S.S., D.M.O., C.H.L.S., W.A.) and Cancer and Genomic Sciences (T.G.B.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Centres for Endocrinology, Diabetes and Metabolism (J.I., A.E.T., R.P.D., T.G.B., C.H.L.S., J.M.W.K., W.A.) and Rare Diseases and Personalised Medicine (T.G.B.), Birmingham Health Partners, Birmingham B15 2TH, United Kingdom; Departments of Paediatric Endocrinology and Diabetes (J.I., R.P.D., T.G.B., J.M.W.K.) and Paediatric Dermatology (C.M.), Birmingham Children's Hospital National Health Service Foundation Trust, Birmingham B4 6NH, United Kingdom; MRC-Holland bv (R.V.), 1057-DN Amsterdam, The Netherlands; Department of Paediatric Endocrinology (R.A.), Great Ormond St Hospital for Children, London WC1N 3JH, United Kingdom; and Benioff Children's Hospital (C.H.L.S.), University of California San Francisco, Oakland, California 94609.

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http://dx.doi.org/10.1210/jc.2015-4101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891801PMC
June 2016

Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification.

Genet Test Mol Biomarkers 2016 Mar 22;20(3):158-61. Epub 2016 Jan 22.

2 Department of Clinical Chemistry, Hematology and Immunology , Diakonessenhuis, Utrecht, The Netherlands .

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http://dx.doi.org/10.1089/gtmb.2015.0233DOI Listing
March 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

A multiplex assay to rapidly exclude HLA-DQ2.5 and HLA-DQ8 expression in patients at risk for celiac disease.

Clin Chem Lab Med 2013 Jun;51(6):1191-8

Department of Clinical Chemistry, Hematology and Immunology, Diakonessenhuis Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1515/cclm-2012-0774DOI Listing
June 2013

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

BMC Med Genet 2013 Apr 26;14:48. Epub 2013 Apr 26.

East Anglian Regional Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2350-14-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652776PMC
April 2013

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.

Genet Test Mol Biomarkers 2010 Aug;14(4):505-10

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1089/gtmb.2009.0188DOI Listing
August 2010

Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes.

Mod Pathol 2010 Jul 14;23(7):1029-39. Epub 2010 May 14.

Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/modpathol.2010.84DOI Listing
July 2010

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Mol Genet Metab 2009 Apr 20;96(4):171-6. Epub 2009 Jan 20.

Centro de Diagnóstico de Enfermedades Moleculares, UAM-CSIC, Departamento de Biología Molecular, Universidad Autónoma de Madrid, ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.009DOI Listing
April 2009