Mieke van Haelst

Mieke van Haelst

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Mieke van Haelst

Mieke van Haelst

Publications by authors named "Mieke van Haelst"

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Genetics of Obesity.

Exp Suppl 2019 ;111:419-441

Obesity Center CGG, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-3-030-25905-1_19DOI Listing
October 2019

Fetal methotrexate syndrome: A systematic review of case reports.

Reprod Toxicol 2019 Aug 8;87:125-139. Epub 2019 Jun 8.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.reprotox.2019.05.066DOI Listing
August 2019

A comprehensive diagnostic approach to detect underlying causes of obesity in adults.

Obes Rev 2019 Jun 1;20(6):795-804. Epub 2019 Mar 1.

Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/obr.12836DOI Listing
June 2019

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation.

Mol Genet Genomic Med 2019 Jun 4;7(6):e00632. Epub 2019 May 4.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565551PMC
June 2019

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.

Obes Facts 2019 19;12(4):369-384. Epub 2019 Jun 19.

Obesity Center CGG (Centrum Gezond Gewicht), Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands,

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https://www.karger.com/Article/FullText/499978
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http://dx.doi.org/10.1159/000499978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758708PMC
June 2019

The pathogenesis of obesity.

Metabolism 2019 Mar 9;92:26-36. Epub 2019 Jan 9.

Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, location Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2018.12.012DOI Listing
March 2019

[A girl with 16p11.2 deletion syndrome].

Ned Tijdschr Geneeskd 2019 Mar 21;163. Epub 2019 Mar 21.

Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.

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March 2019

PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).

Hypertens Res 2018 Nov 12;41(11):981-988. Epub 2018 Sep 12.

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

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http://dx.doi.org/10.1038/s41440-018-0094-5DOI Listing
November 2018

The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

Am J Med Genet A 2018 11 20;176(11):2456-2459. Epub 2018 Sep 20.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.40486DOI Listing
November 2018

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Clin Dysmorphol 2018 Jul;27(3):78-83

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.

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http://dx.doi.org/10.1097/MCD.0000000000000219DOI Listing
July 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Clin Dysmorphol 2018 Apr;27(2):58-62

Department of Clinical Genetics, VU University Medical Center, Amsterdam.

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http://dx.doi.org/10.1097/MCD.0000000000000216DOI Listing
April 2018

Young girl with severe early-onset obesity and hyperphagia.

BMJ Case Rep 2017 Sep 25;2017. Epub 2017 Sep 25.

Pediatric Endocrinology - Obesity Center CGG, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1136/bcr-2017-221067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747791PMC
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Clinical utility gene card for: Cantú syndrome.

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
April 2017

Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child.

Eur J Hum Genet 2016 12 27;24(12):1681-1687. Epub 2016 Jul 27.

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

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http://dx.doi.org/10.1038/ejhg.2016.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117911PMC
December 2016

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

Am J Med Genet A 2016 09 23;170(9):2431-5. Epub 2016 Jun 23.

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

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http://dx.doi.org/10.1002/ajmg.a.37818DOI Listing
September 2016

Further confirmation of the MED13L haploinsufficiency syndrome.

Eur J Hum Genet 2015 Jan 30;23(1):135-8. Epub 2014 Apr 30.

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

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http://www.nature.com/articles/ejhg201469
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http://dx.doi.org/10.1038/ejhg.2014.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266749PMC
January 2015

Ciliary disturbances in syndromal and non-syndromal obesity.

J Pediatr Genet 2014 Jun;3(2):79-88

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

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http://dx.doi.org/10.3233/PGE-14085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020988PMC
June 2014

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

Mol Genet Genomic Med 2014 Mar 12;2(2):134-7. Epub 2013 Dec 12.

Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960055PMC
March 2014

A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.

Am J Med Genet A 2014 Jan 15;164A(1):194-8. Epub 2013 Nov 15.

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

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http://dx.doi.org/10.1002/ajmg.a.36202DOI Listing
January 2014

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.

Am J Med Genet A 2013 Feb 9;161A(2):254-60. Epub 2013 Jan 9.

Department of Pediatric Genetics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35672DOI Listing
February 2013

Mutations in GRIP1 cause Fraser syndrome.

J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.

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

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http://dx.doi.org/10.1136/jmedgenet-2011-100590DOI Listing
May 2012

Ablepharon-Macrostomia syndrome--extension of the phenotype.

Am J Med Genet A 2011 Dec 14;155A(12):3060-2. Epub 2011 Oct 14.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.34287DOI Listing
December 2011

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

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

Am J Med Genet A 2011 May 4;155A(5):1192-5. Epub 2011 Apr 4.

Department of Genomics of Common Disease, Imperial College London, Hammersmith Hospital Campus, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33986
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http://dx.doi.org/10.1002/ajmg.a.33986DOI Listing
May 2011

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

Am J Med Genet A 2007 Dec;143A(24):3194-203

Molecular Medicine Unit, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.31951DOI Listing
December 2007

Familial gigantism caused by an NSD1 mutation.

Am J Med Genet A 2005 Nov;139(1):40-4

Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30973DOI Listing
November 2005