Publications by authors named "Bettina Blaumeiser"

34Publications

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.

Clin Case Rep 2020 Aug 13;8(8):1461-1466. Epub 2020 May 13.

Center of Medical Genetics University Hospital and University of Antwerp Antwerp Belgium.

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http://dx.doi.org/10.1002/ccr3.2889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455455PMC
August 2020

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome.

Mov Disord Clin Pract 2019 Nov 23;6(8):731-732. Epub 2019 Oct 23.

Department of Neurology Antwerp University Hospital Antwerp Belgium.

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http://dx.doi.org/10.1002/mdc3.12835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856462PMC
November 2019

Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach.

J Med Ethics 2020 02 16;46(2):104-109. Epub 2019 Sep 16.

Department of Obstetrics and Gynaecology, Universitair Ziekenhuis Antwerpen, Edegem, Belgium.

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http://dx.doi.org/10.1136/medethics-2018-105186DOI Listing
February 2020

Spectrum of Movement Disorders in 18p Deletion Syndrome.

Mov Disord Clin Pract 2019 Jan 6;6(1):70-73. Epub 2018 Dec 6.

Department of Neurology Antwerp University Hospital Antwerp Belgium.

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http://doi.wiley.com/10.1002/mdc3.12707
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http://dx.doi.org/10.1002/mdc3.12707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335372PMC
January 2019

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.

Acta Derm Venereol 2017 Jul;97(7):862-863

Heinrich-Heine-University, Medical Faculty, , Institute of Human Genetics, , 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.2340/00015555-2658DOI Listing
July 2017

A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis.

BMJ Case Rep 2015 Feb 9;2015. Epub 2015 Feb 9.

Department of Genetics, Antwerp University Hospital UZA, Edegem, Belgium.

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http://dx.doi.org/10.1136/bcr-2014-206609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330456PMC
February 2015

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Birth Defects Res A Clin Mol Teratol 2014 Oct 8;100(10):797-800. Epub 2014 Sep 8.

Department of Gynaecology & Obstetrics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium; Department of Gynaecology & Obstetrics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/bdra.23299DOI Listing
October 2014

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Am J Med Genet A 2008 Sep;146A(17):2304-7

Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.32444
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http://dx.doi.org/10.1002/ajmg.a.32444DOI Listing
September 2008

Investigation of the HLA-DRB1 locus in alopecia areata.

Eur J Dermatol 2006 Jul-Aug;16(4):363-7

Institute for Legal Medicine, Charité University Hospital, Berlin, Germany.

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March 2007

Familial aggregation of alopecia areata.

J Am Acad Dermatol 2006 Apr 23;54(4):627-32. Epub 2006 Jan 23.

Department of Medical Genetics, University Hospital of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.jaad.2005.12.007DOI Listing
April 2006

Prenatal diagnosis of Pfeiffer syndrome type II.

Prenat Diagn 2004 Aug;24(8):644-6

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/pd.960DOI Listing
August 2004