Marielle E Gijn

Marielle E van Gijn

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Marielle E Gijn

Marielle E van Gijn

Publications by authors named "Marielle E van Gijn"

31Publications

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1PubMed Central Citations

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Authors:
Riccardo Papa Marta Rusmini Stefano Volpi Roberta Caorsi Paolo Picco Alice Grossi Francesco Caroli Francesca Bovis Valeria Musso Laura Obici Cinzia Castana Angelo Ravelli Marielle E Van Gijn Isabella Ceccherini Marco Gattorno

Rheumatology (Oxford) 2020 Feb;59(2):344-360

Autoinflammatory Diseases and Immunodeficiencies Centre, Pediatric Rheumatology Clinic, IRCCS Giannina Gaslini Institute, University of Genoa.

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http://dx.doi.org/10.1093/rheumatology/kez270DOI Listing
February 2020

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Authors:
Riccardo Papa Marta Rusmini Stefano Volpi Roberta Caorsi Paolo Picco Alice Grossi Francesco Caroli Francesca Bovis Valeria Musso Laura Obici Cinzia Castana Angelo Ravelli Marielle E Van Gijn Isabella Ceccherini Marco Gattorno

Rheumatology (Oxford) 2020 Feb;59(2):458

Autoinflammatory Diseases and Immunodeficiencies Centre, Pediatric Rheumatology Clinic, IRCCS Giannina Gaslini Institute, University of Genoa.

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http://dx.doi.org/10.1093/rheumatology/kez376DOI Listing
February 2020

Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.

Authors:
Kim Elsink Joris M van Montfrans Mariëlle E van Gijn Maartje Blom P Martin van Hagen T W Kuijpers Geert W J Frederix

Clin Immunol 2020 Feb 5;213:108359. Epub 2020 Feb 5.

Julius Center for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2020.108359DOI Listing
February 2020

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.

Authors:
Gijs T J van Well Benjamin Kant Annabel van Nistelrooij Sema Sirma Ekmekci Stefanie V Henriet Esther Hoppenreijs Marcel van Deuren Joris van Montfrans Stefan Nierkens Ahmet Gül Mariëlle E van Gijn

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):142-146. Epub 2019 Dec 9.

Department of Genetics, University Medical Centre Groningen, The Netherlands.

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January 2020

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Authors:
Ivo F A C Fokkema Kasper J van der Velde Mariska K Slofstra Claudia A L Ruivenkamp Maartje J Vogel Rolph Pfundt Marinus J Blok Ronald H Lekanne Deprez Quinten Waisfisz Kristin M Abbott Richard J Sinke Rubayte Rahman Isaäc J Nijman Bart de Koning Gert Thijs Nienke Wieskamp Ruben J G Moritz Bart Charbon Jasper J Saris Johan T den Dunnen Jeroen F J Laros Morris A Swertz Marielle E van Gijn

Hum Mutat 2019 12 3;40(12):2230-2238. Epub 2019 Sep 3.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900155PMC
December 2019

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases.

Authors:
Benjamin Kant Ellen C Carbo Iris Kokmeijer Jelske J M Oosterman Joost Frenkel Morris A Swertz Johannes K Ploos van Amstel Juan I Aróstegui Marco J Koudijs Mariëlle E van Gijn

J Mol Diagn 2019 Nov 20;21(6):943-950. Epub 2019 Aug 20.

Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.jmoldx.2019.06.009DOI Listing
November 2019

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.

Authors:
Hemmo A F Yska Kim Elsink Taco W Kuijpers Geert W J Frederix Mariëlle E van Gijn Joris M van Montfrans

J Clin Immunol 2019 Aug 28;39(6):577-591. Epub 2019 Jun 28.

Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10875-019-00656-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697711PMC
August 2019

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Authors:
Beate Hagl Benedikt D Spielberger Silvia Thoene Sophie Bonnal Christian Mertes Christof Winter Isaac J Nijman Shira Verduin Andreas C Eberherr Anne Puel Detlev Schindler Jürgen Ruland Thomas Meitinger Julien Gagneur Jordan S Orange Marielle E van Gijn Ellen D Renner

Sci Rep 2018 11 13;8(1):16719. Epub 2018 Nov 13.

Chair and Institute of Environmental Medicine, UNIKA-T, Technical University of Munich and Helmholtz Zentrum Munich, Munich/Augsburg, Munich, Germany.

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http://www.nature.com/articles/s41598-018-34953-z
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http://dx.doi.org/10.1038/s41598-018-34953-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233225PMC
November 2018

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Authors:
Marielle E Van Gijn Isabella Ceccherini Yael Shinar Ellen C Carbo Mariska Slofstra Juan I Arostegui Guillaume Sarrabay Dorota Rowczenio Ebun Omoyımnı Banu Balci-Peynircioglu Hal M Hoffman Florian Milhavet Morris A Swertz Isabelle Touitou

J Med Genet 2018 08 29;55(8):530-537. Epub 2018 Mar 29.

Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier University, INSERM U1183, Montpellier, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105216DOI Listing
August 2018

Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' .

Authors:
Lars T van der Veken Merel C Maiburg Floris Groenendaal Mariëlle E van Gijn Andries C Bloem Claudia Erpelinck Stefan Gröschel Mathijs A Sanders Ruud Delwel Marc B Bierings Arjan Buijs

Haematologica 2018 04 8;103(4):e173-e176. Epub 2018 Feb 8.

Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands

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http://dx.doi.org/10.3324/haematol.2017.185033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865425PMC
April 2018

Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome.

Authors:
Edwin Cuperus Joris M VAN Montfrans Mariëlle E VAN Gijn Maarten T Bastiaens Mirjam Ma DE Willigen Roos J Leguit Carla Afm Brijnzeel-Koomen Ingrid Mb RusseL Suzanne Gma Pasmans

Eur J Dermatol 2017 06;27(3):313-314

Erasmus Medical Centre, Department of Dermatology, Rotterdam, The Netherlands, University Medical Centre Utrecht, Department of Dermatology, Utrecht, The Netherlands.

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http://dx.doi.org/10.1684/ejd.2017.2992DOI Listing
June 2017

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).

Authors:
Jerold Jeyaratnam Nienke M Ter Haar Monique G M de Sain-van der Velden Hans R Waterham Mariëlle E van Gijn Joost Frenkel

JIMD Rep 2016 27;27:33-8. Epub 2015 Sep 27.

Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_489
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http://link.springer.com/10.1007/8904_2015_489
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http://dx.doi.org/10.1007/8904_2015_489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867845PMC
May 2016

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Authors:
Joris M Van Montfrans Esther A R Hartman Kees P J Braun Eric A M Hennekam Elisabeth A Hak Paul J Nederkoorn Willeke F Westendorp Robbert G M Bredius Wouter J W Kollen Elisabeth H Schölvinck G Elizabeth Legger Isabelle Meyts Adrian Liston Klaske D Lichtenbelt Jacques C Giltay Gijs Van Haaften Gaby M De Vries Simons Helen Leavis Cornelis J G Sanders Marc B Bierings Stefan Nierkens Marielle E Van Gijn

Rheumatology (Oxford) 2016 May 10;55(5):902-10. Epub 2016 Feb 10.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht.

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http://dx.doi.org/10.1093/rheumatology/kev439DOI Listing
May 2016

Recurrent pyoderma gangrenosum and cystic acne associated with leucocyte adhesion deficiency due to novel mutations in ITGB2: successful treatment with infliximab and adalimumab.

Authors:
Anders Vahlquist Lena Douhan Håkansson Lars Rönnblom Malgorzata Karawajczyk Anders Fasth Marielle E van Gijn Dirk Roos Per Venge

Acta Derm Venereol 2015 Mar;95(3):349-51

Department of Medical Sciences/Dermatology, Uppsala University, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.2340/00015555-1929DOI Listing
March 2015

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

Authors:
Heleen D de Koning Mariëlle E van Gijn Monique Stoffels Johanna Jongekrijg Patrick L J M Zeeuwen Martin G Elferink Isaac J Nijman Patrick A M Jansen Kornelia Neveling Jos W M van der Meer Joost Schalkwijk Anna Simon

J Allergy Clin Immunol 2015 Feb 16;135(2):561-4. Epub 2014 Sep 16.

Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jaci.2014.07.050DOI Listing
February 2015

A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.

Authors:
Thijs W H Flinsenberg Willemijn J Janssen Eszter Herczenik Peter Boross Maaike Nederend Lieneke H Jongeneel Rianne C Scholman Jaap-Jan Boelens Coen Maas Marielle E van Gijn Joris M van Montfrans Jeanette H Leusen Marianne Boes

Clin Immunol 2014 Nov 19;155(1):108-17. Epub 2014 Sep 19.

Laboratory of Translational Immunology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2014.09.006DOI Listing
November 2014

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Authors:
Isaac J Nijman Joris M van Montfrans Marlous Hoogstraat Marianne L Boes Lisette van de Corput Ellen D Renner Patrick van Zon Stef van Lieshout Martin G Elferink Mirjam van der Burg Clementien L Vermont Bert van der Zwaag Esther Janson Edwin Cuppen Johannes K Ploos van Amstel Marielle E van Gijn

J Allergy Clin Immunol 2014 Feb 15;133(2):529-34. Epub 2013 Oct 15.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.08.032DOI Listing
February 2014

Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer.

Authors:
Nicky Dekker Eleonora B L van Dorst Rob B van der Luijt Marielle E van Gijn Marc van Tuil Johan A Offerhaus Margreet G E M Ausems

J Genet Couns 2013 Jun 30;22(3):345-57. Epub 2012 Nov 30.

Department of Reproductive Medicine and Gynaecology, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1007/s10897-012-9553-3DOI Listing
June 2013

A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

Authors:
Edo D Elstak Maroeska te Loo Kiki Tesselaar Peter van Kerkhof Jan Loeffen Dimitris Grivas Eric Hennekam Jaap Jan Boelens Peter M Hoogerbrugge Peter van der Sluijs Marielle E van Gijn Lisette van de Corput

Pediatr Blood Cancer 2012 Apr 13;58(4):598-605. Epub 2011 Jul 13.

Department of Cell Biology, UMC Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/pbc.23253DOI Listing
April 2012

Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence.

Authors:
Christine Beck Hermann J Girschick Henner Morbach Tobias Schwarz Toyba Yimam Joost Frenkel Marielle E van Gijn

Clin Exp Rheumatol 2011 Nov-Dec;29(6):1040-3. Epub 2011 Dec 22.

University of Wurzburg, Germany.

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March 2012

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Authors:
Roland P Kuiper Lisenka E L M Vissers Ramprasath Venkatachalam Danielle Bodmer Eveline Hoenselaar Monique Goossens Aline Haufe Eveline Kamping Renée C Niessen Frans B L Hogervorst Johan J P Gille Bert Redeker Carli M J Tops Marielle E van Gijn Ans M W van den Ouweland Nils Rahner Verena Steinke Philip Kahl Elke Holinski-Feder Monika Morak Matthias Kloor Susanne Stemmler Beate Betz Pierre Hutter David J Bunyan Sapna Syngal Julie O Culver Tracy Graham Tsun L Chan Iris D Nagtegaal J Han J M van Krieken Hans K Schackert Nicoline Hoogerbrugge Ad Geurts van Kessel Marjolijn J L Ligtenberg

Hum Mutat 2011 Apr 1;32(4):407-14. Epub 2011 Mar 1.

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

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http://dx.doi.org/10.1002/humu.21446DOI Listing
April 2011

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Authors:
Marlies J E Kempers Roland P Kuiper Charlotte W Ockeloen Pierre O Chappuis Pierre Hutter Nils Rahner Hans K Schackert Verena Steinke Elke Holinski-Feder Monika Morak Matthias Kloor Reinhard Büttner Eugene T P Verwiel J Han van Krieken Iris D Nagtegaal Monique Goossens Rachel S van der Post Renée C Niessen Rolf H Sijmons Irma Kluijt Frans B L Hogervorst Edward M Leter Johan J P Gille Cora M Aalfs Egbert J W Redeker Frederik J Hes Carli M J Tops Bernadette P M van Nesselrooij Marielle E van Gijn Encarna B Gómez García Diana M Eccles David J Bunyan Sapna Syngal Elena M Stoffel Julie O Culver Melanie R Palomares Tracy Graham Lea Velsher Janos Papp Edith Oláh Tsun L Chan Suet Y Leung Ad Geurts van Kessel Lambertus A L M Kiemeney Nicoline Hoogerbrugge Marjolijn J L Ligtenberg

Lancet Oncol 2011 Jan 8;12(1):49-55. Epub 2010 Dec 8.

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

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http://dx.doi.org/10.1016/S1470-2045(10)70265-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670774PMC
January 2011

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.

Authors:
Els van Riel Margreet Gem Ausems Frans Bl Hogervorst Irma Kluijt Marielle E van Gijn Jeanne van Echtelt Karen Scheidel-Jacobse Eric Fam Hennekam Rein P Stulp Yvonne J Vos G Johan A Offerhaus Fred H Menko Johan Jp Gille

Hered Cancer Clin Pract 2010 Aug 12;8(1). Epub 2010 Aug 12.

Department of Medical Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands.

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http://dx.doi.org/10.1186/1897-4287-8-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927519PMC
August 2010

[DIRA: life-threatening but treatable inherited inflammatory disease].

Authors:
Nienke M ter Haar Annet van Royen Mariëlle E van Gijn Joost Frenkel

Ned Tijdschr Geneeskd 2010 ;154:A1601

Universitair Medisch Centrum Utrecht, Afd. Kindergeneeskunde, The Netherlands.

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June 2010

Transcription factor achaete scute-like 2 controls intestinal stem cell fate.

Authors:
Laurens G van der Flier Marielle E van Gijn Pantelis Hatzis Pekka Kujala Andrea Haegebarth Daniel E Stange Harry Begthel Maaike van den Born Victor Guryev Irma Oving Johan H van Es Nick Barker Peter J Peters Marc van de Wetering Hans Clevers

Cell 2009 Mar;136(5):903-12

Hubrecht Institute-KNAW & University Medical Center Utrecht, Uppsalaan, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674090007
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http://dx.doi.org/10.1016/j.cell.2009.01.031DOI Listing
March 2009

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

Authors:
Marielle E van Gijn Stéphan Soler Claire de la Chapelle Marcel Mulder Cécile Ritorre Marjolein Kriek Laurent Philibert Michiel van der Wielen Joost Frenkel Sylvie Grandemange Egbert Bakker Johannes K Ploos van Amstel Isabelle Touitou

Eur J Hum Genet 2008 Nov 23;16(11):1404-6. Epub 2008 Jul 23.

DBG Department of Medical Genetics, UMC Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2008.135DOI Listing
November 2008

Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2.

Authors:
Orbicia Riccio Marielle E van Gijn April C Bezdek Luca Pellegrinet Johan H van Es Ursula Zimber-Strobl Lothar J Strobl Tasuku Honjo Hans Clevers Freddy Radtke

EMBO Rep 2008 Apr 15;9(4):377-83. Epub 2008 Feb 15.

Ecole Polytechnique Fédérale de Lausanne, Swiss Institute for Experimental Cancer Research, Chemin des Boveresses 155, Epalinges 1066, Switzerland.

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http://dx.doi.org/10.1038/embor.2008.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2288761PMC
April 2008

The Intestinal Wnt/TCF Signature.

Authors:
Laurens G Van der Flier Jacob Sabates-Bellver Irma Oving Andrea Haegebarth Mariagrazia De Palo Marcello Anti Marielle E Van Gijn Saskia Suijkerbuijk Marc Van de Wetering Giancarlo Marra Hans Clevers

Gastroenterology 2007 Feb 18;132(2):628-32. Epub 2006 Aug 18.

Hubrecht Institute, Netherlands Institute for Developmental Biology and Centre for Biomedical Genetics, Utrecht, The Netherlands.

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http://dx.doi.org/10.1053/j.gastro.2006.08.039DOI Listing
February 2007

Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells.

Authors:
Johan H van Es Marielle E van Gijn Orbicia Riccio Maaike van den Born Marc Vooijs Harry Begthel Miranda Cozijnsen Sylvie Robine Doug J Winton Freddy Radtke Hans Clevers

Nature 2005 Jun;435(7044):959-63

Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nature03659DOI Listing
June 2005

Wnt signalling induces maturation of Paneth cells in intestinal crypts.

Authors:
Johan H van Es Philippe Jay Alex Gregorieff Marielle E van Gijn Suzanne Jonkheer Pantelis Hatzis Andrea Thiele Maaike van den Born Harry Begthel Thomas Brabletz Makoto M Taketo Hans Clevers

Nat Cell Biol 2005 Apr 20;7(4):381-6. Epub 2005 Mar 20.

Hubrecht Institute, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584CT Utrecht, The Netherlands.

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https://www.uniklinik-freiburg.de/fileadmin/mediapool/07_kli
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http://www.nature.com/doifinder/10.1038/ncb1240
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http://dx.doi.org/10.1038/ncb1240DOI Listing
April 2005

The wnt-frizzled cascade in cardiovascular disease.

Authors:
Marielle E van Gijn Mat J A P Daemen Jos F M Smits W Matthijs Blankesteijn

Cardiovasc Res 2002 Jul;55(1):16-24

Department of Pharmacology, Cardiovascular Research Institute Maastricht, Maastricht University, P.O. Box 616, The Netherlands.

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http://dx.doi.org/10.1016/s0008-6363(02)00221-3DOI Listing
July 2002