Publications by authors named "Hannie Douben"

27Publications

Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Authors:
Stijn L M In 't Groen Douglas O S de Faria Alessandro Iuliano Johanna M P van den Hout Hannie Douben Trijnie Dijkhuizen David Cassiman Peter Witters Miguel-Ángel Barba Romero Annelies de Klein Galhana M Somers-Bolman Jasper J Saris Lies H Hoefsloot Ans T van der Ploeg Atze J Bergsma W W M Pim Pijnappel

Mol Ther Methods Clin Dev 2020 Jun 13;17:337-348. Epub 2020 Jan 13.

Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.

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June 2020

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Authors:
Tyler F Beck Danielle Veenma Oleg A Shchelochkov Zhiyin Yu Bum Jun Kim Hitisha P Zaveri Yolande van Bever Sunju Choi Hannie Douben Terry K Bertin Pragna I Patel Brendan Lee Dick Tibboel Annelies de Klein David W Stockton Monica J Justice Daryl A Scott

Hum Mol Genet 2020 04;29(6):1054

Department of Molecular and Human Genetics.

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April 2020

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Authors:
Jacob W P Potuijt Martijn Baas Rivka Sukenik-Halevy Hannie Douben Picard Nguyen Deon J Venter Renée Gallagher Sigrid M Swagemakers Steven E R Hovius Christianne A van Nieuwenhoven Robert-Jan H Galjaard Peter J van der Spek Nadav Ahituv Annelies de Klein

Genet Med 2018 11 15;20(11):1405-1413. Epub 2018 Mar 15.

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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November 2018

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Authors:
Anneke Kievit Federico Tessadori Hannie Douben Ingrid Jordens Madelon Maurice Jeannette Hoogeboom Raoul Hennekam Sheela Nampoothiri Hülya Kayserili Marco Castori Margo Whiteford Connie Motter Catherine Melver Michael Cunningham Anne Hing Nancy M Kokitsu-Nakata Siulan Vendramini-Pittoli Antonio Richieri-Costa Annette F Baas Corstiaan C Breugem Karen Duran Maarten Massink Patrick W B Derksen Wilfred F J van IJcken Leontine van Unen Fernando Santos-Simarro Pablo Lapunzina Vera L Gil-da Silva Lopes Elaine Lustosa-Mendes Max Krall Anne Slavotinek Victor Martinez-Glez Jeroen Bakkers Koen L I van Gassen Annelies de Klein Marie-José H van den Boogaard Gijs van Haaften

Eur J Hum Genet 2018 02 18;26(2):210-219. Epub 2018 Jan 18.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.

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February 2018

Aging of bone marrow- and umbilical cord-derived mesenchymal stromal cells during expansion.

Authors:
Samantha F H de Witte Eleonora E Lambert Ana Merino Tanja Strini Hannie J C W Douben Lisa O'Flynn Steve J Elliman Annelies J E M M de Klein Philip N Newsome Carla C Baan Martin J Hoogduijn

Cytotherapy 2017 07 24;19(7):798-807. Epub 2017 Apr 24.

Nephrology and Transplantation, Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands.

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July 2017

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.

Authors:
Erwin Brosens Florian Marsch Elisabeth M de Jong Hitisha P Zaveri Alina C Hilger Vera Gisela Choinitzki Alice Hölscher Per Hoffmann Stefan Herms Thomas M Boemers Benno M Ure Martin Lacher Michael Ludwig Bert H Eussen Robert M van der Helm Hannie Douben Diane Van Opstal Rene M H Wijnen H Berna Beverloo Yolande van Bever Alice S Brooks Hanneke IJsselstijn Daryl A Scott Johannes Schumacher Dick Tibboel Heiko Reutter Annelies de Klein

Eur J Hum Genet 2016 12 20;24(12):1715-1723. Epub 2016 Jul 20.

Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.

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December 2016

An Acute Cellular Rejection With Detrimental Outcome Occurring Under Belatacept-Based Immunosuppressive Therapy: An Immunological Analysis.

Authors:
Gretchen N de Graav Dennis A Hesselink Marjolein Dieterich Rens Kraaijeveld Hannie Douben Annelies de Klein Dave L Roelen Willem Weimar Joke I Roodnat Marian C Clahsen-van Groningen Carla C Baan

Transplantation 2016 05;100(5):1111-9

1 Department of Internal Medicine, Section Transplantation and Nephrology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. 2 Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. 3 Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, the Netherlands. 4 Department of Pathology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

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May 2016

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

Authors:
Simone Olgiati Astrid Thomas Marialuisa Quadri Guido J Breedveld Josja Graafland Hubertus Eussen Hannie Douben Annelies de Klein Marco Onofrj Vincenzo Bonifati

Parkinsonism Relat Disord 2015 Aug 9;21(8):981-6. Epub 2015 Jun 9.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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August 2015

Stable X chromosome reactivation in female human induced pluripotent stem cells.

Authors:
Tahsin Stefan Barakat Mehrnaz Ghazvini Bas de Hoon Tracy Li Bert Eussen Hannie Douben Reinier van der Linden Nathalie van der Stap Marjan Boter Joop S Laven Robert-Jan Galjaard J Anton Grootegoed Annelies de Klein Joost Gribnau

Stem Cell Reports 2015 Feb 29;4(2):199-208. Epub 2015 Jan 29.

Department of Developmental Biology, Erasmus MC, University Medical Center, 3015 CE Rotterdam, the Netherlands. Electronic address:

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February 2015

Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.

Authors:
Celine E F de Esch Mehrnaz Ghazvini Friedemann Loos Nune Schelling-Kazaryan W Widagdo Shashini T Munshi Erik van der Wal Hannie Douben Nilhan Gunhanlar Steven A Kushner W W M Pim Pijnappel Femke M S de Vrij Niels Geijsen Joost Gribnau Rob Willemsen

Stem Cell Reports 2014 Oct 11;3(4):548-55. Epub 2014 Sep 11.

Department of Clinical Genetics, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands. Electronic address:

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October 2014

Culture expansion induces non-tumorigenic aneuploidy in adipose tissue-derived mesenchymal stromal cells.

Authors:
Marieke Roemeling-van Rhijn Annelies de Klein Hannie Douben Qiuwei Pan Luc J W van der Laan Jan N M Ijzermans Michiel G H Betjes Carla C Baan Willem Weimar Martin J Hoogduijn

Cytotherapy 2013 Nov;15(11):1352-61

Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands. Electronic address:

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November 2013

Structural genome variations in individuals with childhood cancer and tumour predisposition syndromes.

Authors:
Saskia Hopman Johannes Merks Hubertus Eussen Hannie Douben Simone Snijder Raoul Hennekam Annelies de Klein Huib Caron

Eur J Cancer 2013 Jun 6;49(9):2170-8. Epub 2013 Mar 6.

Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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June 2013

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Authors:
Tyler F Beck Danielle Veenma Oleg A Shchelochkov Zhiyin Yu Bum Jun Kim Hitisha P Zaveri Yolande van Bever Sunju Choi Hannie Douben Terry K Bertin Pragna I Patel Brendan Lee Dick Tibboel Annelies de Klein David W Stockton Monica J Justice Daryl A Scott

Hum Mol Genet 2013 Mar 5;22(5):1026-38. Epub 2012 Dec 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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March 2013

Mesenchymal stem cells derived from adipose tissue are not affected by renal disease.

Authors:
Marieke Roemeling-van Rhijn Marlies E J Reinders Annelies de Klein Hannie Douben Sander S Korevaar Fane K F Mensah Frank J M F Dor Jan N M IJzermans Michiel G H Betjes Carla C Baan Willem Weimar Martin J Hoogduijn

Kidney Int 2012 Oct 13;82(7):748-58. Epub 2012 Jun 13.

Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.

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October 2012

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin.

Authors:
Dora Janeth Fonseca Carlos Fernando Prada Luz Miriam Siza Diana Angel Yenny Milena Gomez Carlos Martin Restrepo Hannie Douben Fernando Rivadeneira Annelies de Klein Paul Laissue

Am J Med Genet A 2012 Mar 7;158A(3):689-93. Epub 2012 Feb 7.

Unidad de Genética, Escuela de Medicina y Ciencias de la Salud. Universidad del Rosario. Bogotá, Colombia.

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March 2012

Comparable levels of folate-induced aneusomy in B-lymphoblasts from oral-cleft patients and controls.

Authors:
Bart J B Bliek Régine P M Steegers-Theunissen Hannie Douben Jan Lindemans Eric A P Steegers Annelies de Klein

Mutat Res 2012 Jan 25;741(1-2):76-80. Epub 2011 Nov 25.

Department of Obstetrics and Gynecology, Erasmus MC, Rotterdam, The Netherlands.

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January 2012

Mapping of homozygous deletions in verified esophageal adenocarcinoma cell lines and xenografts.

Authors:
Jurjen J Boonstra Ronald van Marion Hannie J C W Douben Jerry S Lanchbury Kirsten M Timms Victor Abkevich Hugo W Tilanus Annelies de Klein Winand N M Dinjens

Genes Chromosomes Cancer 2012 Mar 12;51(3):272-82. Epub 2011 Nov 12.

Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

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March 2012

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

Authors:
Danielle Veenma Erwin Brosens Elisabeth de Jong Cees van de Ven Connie Meeussen Titia Cohen-Overbeek Marjan Boter Hubertus Eussen Hannie Douben Dick Tibboel Annelies de Klein

Eur J Hum Genet 2012 Mar 9;20(3):298-304. Epub 2011 Nov 9.

Department of Paediatric Surgery, Rotterdam, The Netherlands.

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March 2012

Overexpression of full-length ETV1 transcripts in clinical prostate cancer due to gene translocation.

Authors:
Delila Gasi Hetty A van der Korput Hannie C Douben Annelies de Klein Corrina M de Ridder Wytske M van Weerden Jan Trapman

PLoS One 2011 Jan 26;6(1):e16332. Epub 2011 Jan 26.

Department of Pathology, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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January 2011

Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.

Authors:
Danielle Veenma Niels Beurskens Hannie Douben Bert Eussen Petra Noomen Lutgarde Govaerts Els Grijseels Maarten Lequin Ronald de Krijger Dick Tibboel Annelies de Klein Dian Van Opstal

PLoS One 2010 Dec 21;5(12):e15348. Epub 2010 Dec 21.

Department of Pediatric Surgery, Erasmus-MC Sophia, Rotterdam, The Netherlands.

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December 2010