Publications by authors named "Mascha M V A P Schijvenaars"

11Publications

Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.

Authors:
Anita de Breuk Ilhan E Acar Eveline Kersten Mascha M V A P Schijvenaars Johanna M Colijn Lonneke Haer-Wigman Bjorn Bakker Sarah de Jong Magda A Meester-Smoor Timo Verzijden Tom O A R Missotten Jordi Monés Marc Biarnés Daniel Pauleikhoff Hans W Hense Rufino Silva Sandrina Nunes Joana B Melo Sascha Fauser Carel B Hoyng Marius Ueffing Marieke J H Coenen Caroline C W Klaver Anneke I den Hollander

Ophthalmology 2020 Jul 25. Epub 2020 Jul 25.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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July 2020

TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy.

Authors:
Julia M Hofstra Marieke J H Coenen Mascha M V A P Schijvenaars Jo H M Berden Johan van der Vlag Lies H Hoefsloot Nine V A M Knoers Jack F M Wetzels Tom Nijenhuis

PLoS One 2014 14;9(7):e102065. Epub 2014 Jul 14.

Department of Nephrology, Radboud university medical center, Nijmegen, the Netherlands.

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November 2015

Full-gene sequencing analysis of NAT2 and its relationship with isoniazid pharmacokinetics in Venezuelan children with tuberculosis.

Authors:
Lilly M Verhagen Marieke Jh Coenen Diana López Juan F García Jacobus H de Waard Mascha M V A P Schijvenaars Peter W M Hermans Rob E Aarnoutse

Pharmacogenomics 2014 Feb;15(3):285-96

Laboratorio de Tuberculosis, Instituto de Biomedicina, Universidad Central de Venezuela, Caracas, Venezuela.

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February 2014

Heme oxygenase-1 promoter polymorphisms do not influence susceptibility to systemic sclerosis and its clinical phenotypes.

Authors:
Lenny van Bon Jasper C A Broen Mascha M V A P Schijvenaars Blanca Rueda Carmen P Simeón Norberto Ortego-Centeno Miguel A González-Gay Timothy R D J Radstake Nicolas Hunzelmann Gabriella Riemekasten Torsten Witte Frank A D T G Wagener Madelon C Vonk Marieke J H Coenen Javier Martin

Clin Exp Rheumatol 2013 Mar-Apr;31(2 Suppl 76):186. Epub 2013 Feb 7.

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September 2013

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.

Authors:
Marieke J H Coenen Alide A Tieleman Mascha M V A P Schijvenaars Maike Leferink Laura P W Ranum Hans Scheffer Baziel G M van Engelen

Eur J Hum Genet 2011 May 12;19(5):567-70. Epub 2011 Jan 12.

Department of Human Genetics, Institute for Genetic and Metabolic Diseases, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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May 2011

Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome.

Authors:
Marieke J H Coenen Christian Enevold Pilar Barrera Mascha M V A P Schijvenaars Erik J M Toonen Hans Scheffer Leonid Padyukov Alf Kastbom Lars Klareskog Anne Barton Wietske Kievit Maarten J Rood Tim L Jansen Dorine Swinkels Piet L C M van Riel Barbara Franke Klaus Bendtzen Timothy R D J Radstake

PLoS One 2010 Dec 15;5(12):e14326. Epub 2010 Dec 15.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Institute for Genetic and Metabolic Disease (IGMD), Nijmegen, The Netherlands.

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December 2010

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

Authors:
Sascha Vermeer Alexander Hoischen Rowdy P P Meijer Christian Gilissen Kornelia Neveling Nienke Wieskamp Arjan de Brouwer Michel Koenig Mathieu Anheim Mirna Assoum Nathalie Drouot Slobodanka Todorovic Vedrana Milic-Rasic Hanns Lochmüller Giovanni Stevanin Cyril Goizet Albert David Alexandra Durr Alexis Brice Berry Kremer Bart P C van de Warrenburg Mascha M V A P Schijvenaars Angelien Heister Michael Kwint Peer Arts Jenny van der Wijst Joris Veltman Erik-Jan Kamsteeg Hans Scheffer Nine Knoers

Am J Hum Genet 2010 Dec 18;87(6):813-9. Epub 2010 Nov 18.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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December 2010

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).

Authors:
Barbara Franke Sita H H M Vermeulen Regine P M Steegers-Theunissen Marieke J Coenen Mascha M V A P Schijvenaars Hans Scheffer Martin den Heijer Henk J Blom

Birth Defects Res A Clin Mol Teratol 2009 Mar;85(3):216-26

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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March 2009

Allelic imbalance analysis using a single-nucleotide polymorphism microarray for the detection of bladder cancer recurrence.

Authors:
Marieke J H Coenen Martine Ploeg Mascha M V A P Schijvenaars Erik B Cornel Herbert F M Karthaus Hans Scheffer J Alfred Witjes Barbara Franke Lambertus A L M Kiemeney

Clin Cancer Res 2008 Dec;14(24):8198-204

Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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December 2008

The -2518A>G promoter polymorphism in the CCL2 gene is not associated with systemic sclerosis susceptibility or phenotype: results from a multicenter study of European Caucasian patients.

Authors:
Timothy R D J Radstake Madelon C Vonk Marieke Dekkers Mascha M V A P Schijvenaars William L Treppichio Robert Lafyatis Gabriela Riemekasten Frank van den Hoogen Marieke J H Coenen

Hum Immunol 2009 Feb 24;70(2):130-3. Epub 2008 Nov 24.

Department of Rheumatology, Radboud University, Nijmegen Medical Centre, The Netherlands.

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February 2009

Further characterization of the genetic defect of the Bent tail mouse, a mouse model for human neural tube defects.

Authors:
Riko Klootwijk Mascha M V A P Schijvenaars Edwin C M Mariman Barbara Franke

Birth Defects Res A Clin Mol Teratol 2004 Nov;70(11):880-4

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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November 2004