Publications by authors named "Abeltje Polstra"

15Publications

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Authors:
Eline A Verberne Shuxiang Goh Jade England Manon van Ginkel Louise Rafael-Croes Saskia Maas Abeltje Polstra Yuri A Zarate Katherine A Bosanko Kieran B Pechter Emma Bedoukian Kosuke Izumi Ayeshah Chaudhry Nathaniel H Robin Megan Boothe Natalie C Lippa Vimla Aggarwal Darryl C De Vivo Anna Lehman Causes Study Sylvia Stockler Ange-Line Bruel Bertrand Isidor Jennifer Lemons David F Rodriguez-Buritica Christopher M Richmond Zornitza Stark Pankaj B Agrawal R Frank Kooy Marije E C Meuwissen David A Koolen Rolf Pfundt Agne Lieden Britt-Marie Anderlid Dagmar Glatz Marcel M A M Mannens Madhura Bakshi Frédérick A Mallette Mieke M van Haelst Philippe M Campeau

Genet Med 2020 Oct 20. Epub 2020 Oct 20.

Department of Pediatrics, University of Montreal, Montreal, QC, Canada.

View Article and Find Full Text PDF
October 2020

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.

Authors:
Tina D Hjortshøj Anna R Sørensen Melodi Yusibova Bo M Hansen Morten Dunø Marie Balslev-Harder Karen Grønskov Johanna M van Hagen Abeltje M Polstra Thomas Eggermann Martijn J J Finken Zeynep Tümer

Clin Genet 2020 06 11;97(6):902-907. Epub 2020 Mar 11.

Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

View Article and Find Full Text PDF
June 2020

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Authors:
Arjan C Houweling Glenda M Beaman Alex V Postma T Blair Gainous Klaske D Lichtenbelt Francesco Brancati Filipa M Lopes Ingeborg van der Made Abeltje M Polstra Michael L Robinson Kevin D Wright Jamie M Ellingford Ashley R Jackson Eline Overwater Rita Genesio Silvio Romano Letizia Camerota Emanuela D'Angelo Elizabeth J Meijers-Heijboer Vincent M Christoffels Kirk M McHugh Brian L Black William G Newman Adrian S Woolf Esther E Creemers

J Clin Invest 2019 12;129(12):5374-5380

Department of Experimental Cardiology, Amsterdam UMC, Amsterdam, Netherlands.

View Article and Find Full Text PDF
December 2019

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

Authors:
Jan Maarten Cobben Izabela M Krzyzewska Andrea Venema Adri N Mul Abeltje Polstra Alex V Postma Robert Smigiel Karolina Pesz Jacek Niklinski Monika A Chomczyk Peter Henneman Marcel Mam Mannens

Epigenomics 2019 05 15;11(7):767-785. Epub 2019 Mar 15.

Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
May 2019

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

Authors:
Linda M Henricks Ester J M Siemerink Hilde Rosing Judith Meijer Susan M I Goorden Abeltje M Polstra Lida Zoetekouw Annemieke Cats Jan H M Schellens André B P van Kuilenburg

Int J Cancer 2018 01 30;142(2):424-430. Epub 2017 Sep 30.

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
January 2018

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Authors:
Nina De Rocker Sarah Vergult David Koolen Eva Jacobs Alexander Hoischen Susan Zeesman Birgitte Bang Frédérique Béna Nele Bockaert Ernie M Bongers Thomy de Ravel Koenraad Devriendt Sabrina Giglio Laurence Faivre Shelagh Joss Saskia Maas Nathalie Marle Francesca Novara Malgorzata J M Nowaczyk Hilde Peeters Abeltje Polstra Filip Roelens Carla Rosenberg Julien Thevenon Zeynep Tümer Suzanne Vanhauwaert Konstantinos Varvagiannis Andy Willaert Marjolein Willemsen Marjolaine Willems Orsetta Zuffardi Paul Coucke Frank Speleman Evan E Eichler Tjitske Kleefstra Björn Menten

Genet Med 2015 Jun 18;17(6):460-6. Epub 2014 Sep 18.

Center for Medical Genetics, Ghent University, Ghent, Belgium.

View Article and Find Full Text PDF
June 2015

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Authors:
Daniela Q C M Barge-Schaapveld Saskia M Maas Abeltje Polstra Lia C Knegt Raoul C M Hennekam

Am J Med Genet A 2011 May 4;155A(5):1066-72. Epub 2011 Apr 4.

Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
May 2011

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Authors:
Ron Hochstenbach Ellen van Binsbergen John Engelen Aggie Nieuwint Abeltje Polstra Pino Poddighe Claudia Ruivenkamp Birgit Sikkema-Raddatz Dominique Smeets Martin Poot

Eur J Med Genet 2009 Jul-Aug;52(4):161-9. Epub 2009 Apr 9.

Department of Biomedical Genetics, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

View Article and Find Full Text PDF
November 2009

Cytomegalovirus and human herpesvirus 8 DNA detection in peripheral blood monocytic cells of AIDS patients: correlations with the presence of Kaposi's sarcoma and CMV disease.

Authors:
Antoinette C van der Kuyl Abeltje M Polstra Remco van den Burg Gerrit Jan Weverling Jaap Goudsmit Marion Cornelissen

J Med Virol 2005 Aug;76(4):541-6

Department of Human Retrovirology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
August 2005

Dynamics of cytomegalovirus (CMV)-specific T cells in HIV-1-infected individuals progressing to AIDS with CMV end-organ disease.

Authors:
Corine Bronke Nanette M Palmer Christine A Jansen Geertje H A Westerlaken Abeltje M Polstra Peter Reiss Margreet Bakker Frank Miedema Kiki Tesselaar Debbie van Baarle

J Infect Dis 2005 Mar 31;191(6):873-80. Epub 2005 Jan 31.

Department of Clinical Viro-Immunology, Sanquin Research and Landsteiner Laboratory, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
March 2005

Retrospective, longitudinal analysis of serum human herpesvirus-8 viral DNA load in AIDS-related Kaposi's sarcoma patients before and after diagnosis.

Authors:
Abeltje M Polstra Marion Cornelissen Jaap Goudsmit Antoinette C van der Kuyl

J Med Virol 2004 Nov;74(3):390-6

Department of Human Retrovirology, Academic Medical Centre, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
November 2004

An IL-8 gene promoter polymorphism is associated with the risk of the development of AIDS-related Kaposi's sarcoma: a case-control study.

Authors:
Antoinette C van der Kuyl Abeltje M Polstra Gerrit Jan Weverling Fokla Zorgdrager Remco van den Burg Marion Cornelissen

AIDS 2004 May;18(8):1206-8

Department of Human Retrovirology, Academic Medical Centre, University of Amsterdam, The Netherlands.

View Article and Find Full Text PDF
May 2004

Human herpesvirus 8 load in matched serum and plasma samples of patients with AIDS-associated Kaposi's sarcoma.

Authors:
Abeltje M Polstra Remco Van Den Burg Jaap Goudsmit Marion Cornelissen

J Clin Microbiol 2003 Dec;41(12):5488-91

Department of Human Retrovirology University of Amsterdam, The Netherlands.

View Article and Find Full Text PDF
December 2003

Latent and lytic HHV-8 mRNA expression in PBMCs and Kaposi's sarcoma skin biopsies of AIDS Kaposi's sarcoma patients.

Authors:
Abeltje M Polstra Jaap Goudsmit Marion Cornelissen

J Med Virol 2003 Aug;70(4):624-7

Department of Human Retrovirology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
August 2003

Development of real-time NASBA assays with molecular beacon detection to quantify mRNA coding for HHV-8 lytic and latent genes.

Authors:
Abeltje M Polstra J Goudsmit M Cornelissen

BMC Infect Dis 2002 Sep 4;2:18. Epub 2002 Sep 4.

Department of Human Retrovirology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
September 2002