Publications by authors named "Mieke M Van Haelst"

69Publications

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.

Curr Diab Rep 2020 07 30;20(9):44. Epub 2020 Jul 30.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands.

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July 2020

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Am J Med Genet A 2020 08 28;182(8):1952-1956. Epub 2020 May 28.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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August 2020

Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome.

Eur J Hum Genet 2020 09 15;28(9):1196-1204. Epub 2020 May 15.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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September 2020

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.

Am J Med Genet A 2020 07 22;182(7):1776-1779. Epub 2020 Apr 22.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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July 2020

Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.

Eur J Hum Genet 2020 07 6;28(7):943-946. Epub 2020 Mar 6.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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July 2020

Three-dimensional facial morphology in Cantú syndrome.

Am J Med Genet A 2020 05 26;182(5):1041-1052. Epub 2020 Feb 26.

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

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May 2020

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681

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

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December 2019

Genetics of Obesity.

Exp Suppl 2019 ;111:419-441

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

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October 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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February 2020

Fetal methotrexate syndrome: A systematic review of case reports.

Reprod Toxicol 2019 08 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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August 2019

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

Mol Genet Genomic Med 2019 06 4;7(6):e00632. Epub 2019 May 4.

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

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June 2019

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

Ned Tijdschr Geneeskd 2019 03 21;163. Epub 2019 Mar 21.

Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.

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March 2019

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

Obes Rev 2019 06 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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June 2019

The pathogenesis of obesity.

Metabolism 2019 03 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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March 2019

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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November 2018

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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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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July 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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September 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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April 2017

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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September 2016

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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June 2014

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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January 2015

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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March 2014

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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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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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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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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December 2007