Mieke M van Haelst

Mieke M van Haelst

UNVERIFIED PROFILE

Are you Mieke M van Haelst?   Register this Author

Register author
Mieke M van Haelst

Mieke M van Haelst

Publications by authors named "Mieke M van Haelst"

Are you Mieke M van Haelst?   Register this Author

53Publications

2148Reads

49Profile Views

Genetics of Obesity.

Authors:
Lotte Kleinendorst Mieke M van Haelst Erica L T van den Akker

Exp Suppl 2019 ;111:419-441

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

View Article

Download full-text PDF

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

Fetal methotrexate syndrome: A systematic review of case reports.

Authors:
Eline A Verberne Emma de Haan J Peter van Tintelen Dick Lindhout Mieke M van Haelst

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Eline S van der Valk Erica L T van den Akker Mesut Savas Lotte Kleinendorst Jenny A Visser Mieke M Van Haelst Arya M Sharma Elisabeth F C van Rossum

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.

View Article

Download full-text PDF

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

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

Authors:
Mellody I Cooiman Lotte Kleinendorst Bert van der Zwaag Ignace M C Janssen Frits J Berends Mieke M van Haelst

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Mesut Savas Vincent L Wester Jenny A Visser Lotte Kleinendorst Bert van der Zwaag Mieke M van Haelst Erica L T van den Akker Elisabeth F C van Rossum

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,

View Article

Download full-text PDF

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

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Authors:
Sandra Jansen Ilse M van der Werf A Micheil Innes Alexandra Afenjar Pankaj B Agrawal Ilse J Anderson Paldeep S Atwal Ellen van Binsbergen Marie-José van den Boogaard Lucia Castiglia Zeynep H Coban-Akdemir Anke van Dijck Diane Doummar Albertien M van Eerde Anthonie J van Essen Koen L van Gassen Maria J Guillen Sacoto Mieke M van Haelst Ivan Iossifov Jessica L Jackson Elizabeth Judd Charu Kaiwar Boris Keren Eric W Klee Jolien S Klein Wassink-Ruiter Marije E Meuwissen Kristin G Monaghan Sonja A de Munnik Caroline Nava Charlotte W Ockeloen Rosa Pettinato Hilary Racher Tuula Rinne Corrado Romano Victoria R Sanders Rhonda E Schnur Eric J Smeets Alexander P A Stegmann Asbjørg Stray-Pedersen David A Sweetser Paulien A Terhal Kristian Tveten Grace E VanNoy Petra F de Vries Jessica L Waxler Marcia Willing Rolph Pfundt Joris A Veltman R Frank Kooy Lisenka E L M Vissers Bert B A de Vries

Eur J Hum Genet 2019 May 24;27(5):738-746. Epub 2019 Jan 24.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41431-018-0292-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462006PMC
May 2019

The pathogenesis of obesity.

Authors:
Sabrina M Oussaada Katy A van Galen Mellody I Cooiman Lotte Kleinendorst Eric J Hazebroek Mieke M van Haelst Kasper W Ter Horst Mireille J Serlie

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:

View Article

Download full-text PDF

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

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

Authors:
Lotte Kleinendorst Marthe Sno Mieke M van Haelst

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

Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.

View Article

Download full-text PDF

 Source
March 2019

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

Authors:
Kirsten Y Renkema Jonne M Westermann Rutger A J Nievelstein Shirley M Lo-A-Njoe Bert van der Zwaag Meindert E Manshande Mieke M van Haelst

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Lotte Kleinendorst Graciela Pi Castán Alfonso Caro-Llopis Elles M J Boon Mieke M van Haelst

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.

View Article

Download full-text PDF

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

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Authors:
Marijn F Stokman Bert van der Zwaag Nicole C A J van de Kar Mieke M van Haelst Albertien M van Eerde Joost W van der Heijden Hester Y Kroes Elly Ippel Annelien J A Schulp Koen L van Gassen Iris A L M van Rooij Rachel H Giles Philip L Beales Ronald Roepman Heleen H Arts Ernie M H F Bongers Kirsten Y Renkema Nine V A M Knoers Jeroen van Reeuwijk Marc R Lilien

Pediatr Nephrol 2018 10 5;33(10):1701-1712. Epub 2018 Jul 5.

Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00467-018-3958-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132874PMC
October 2018

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Authors:
Federico Tessadori Helen I Roessler Sanne M C Savelberg Sonja Chocron Sarah M Kamel Karen J Duran Mieke M van Haelst Gijs van Haaften Jeroen Bakkers

Dis Model Mech 2018 10 18;11(10). Epub 2018 Oct 18.

Hubrecht Institute-KNAW and UMC Utrecht, 3584 CT Utrecht, the Netherlands

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1242/dmm.035469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215435PMC
October 2018

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Authors:
Lotte Kleinendorst Maarten P G Massink Mellody I Cooiman Mesut Savas Olga H van der Baan-Slootweg Roosje J Roelants Ignace C M Janssen Hanne J Meijers-Heijboer Nine V A M Knoers Hans Kristian Ploos van Amstel Elisabeth F C van Rossum Erica L T van den Akker Gijs van Haaften Bert van der Zwaag Mieke M van Haelst

J Med Genet 2018 09 3;55(9):578-586. Epub 2018 Jul 3.

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

View Article

Download full-text PDF

 Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105315
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2018-105315DOI Listing
September 2018

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

Authors:
Helen I Roessler Catharina M L Volker-Touw Paulien A Terhal Gijs van Haaften Mieke M van Haelst

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

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

View Article

Download full-text PDF

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

Williams-Beuren syndrome in diverse populations.

Authors:
Paul Kruszka Antonio R Porras Deise Helena de Souza Angélica Moresco Victoria Huckstadt Ashleigh D Gill Alec P Boyle Tommy Hu Yonit A Addissie Gary T K Mok Cedrik Tekendo-Ngongang Karen Fieggen Eloise J Prijoles Pranoot Tanpaiboon Engela Honey Ho-Ming Luk Ivan F M Lo Meow-Keong Thong Premala Muthukumarasamy Kelly L Jones Khadija Belhassan Karim Ouldim Ihssane El Bouchikhi Laila Bouguenouch Anju Shukla Katta M Girisha Nirmala D Sirisena Vajira H W Dissanayake C Sampath Paththinige Rupesh Mishra Monisha S Kisling Carlos R Ferreira María Beatriz de Herreros Ni-Chung Lee Saumya S Jamuar Angeline Lai Ee Shien Tan Jiin Ying Lim Cham Breana Wen-Min Neerja Gupta Stephanie Lotz-Esquivel Ramsés Badilla-Porras Dalia Farouk Hussen Mona O El Ruby Engy A Ashaat Siddaramappa J Patil Leah Dowsett Alison Eaton A Micheil Innes Vorasuk Shotelersuk Ëben Badoe Ambroise Wonkam María Gabriela Obregon Brian H Y Chung Milana Trubnykova Jorge La Serna Bertha Elena Gallardo Jugo Miguel Chávez Pastor Hugo Hernán Abarca Barriga Andre Megarbane Beth A Kozel Mieke M van Haelst Roger E Stevenson Marshall Summar A Adebowale Adeyemo Colleen A Morris Danilo Moretti-Ferreira Marius George Linguraru Maximilian Muenke

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.

View Article

Download full-text PDF

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

Young girl with severe early-onset obesity and hyperphagia.

Authors:
Lotte Kleinendorst Mieke M van Haelst Erica L T van den Akker

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Konrad Platzer Hongjie Yuan Hannah Schütz Alexander Winschel Wenjuan Chen Chun Hu Hirofumi Kusumoto Henrike O Heyne Katherine L Helbig Sha Tang Marcia C Willing Brad T Tinkle Darius J Adams Christel Depienne Boris Keren Cyril Mignot Eirik Frengen Petter Strømme Saskia Biskup Dennis Döcker Tim M Strom Heather C Mefford Candace T Myers Alison M Muir Amy LaCroix Lynette Sadleir Ingrid E Scheffer Eva Brilstra Mieke M van Haelst Jasper J van der Smagt Levinus A Bok Rikke S Møller Uffe B Jensen John J Millichap Anne T Berg Ethan M Goldberg Isabelle De Bie Stephanie Fox Philippe Major Julie R Jones Elaine H Zackai Rami Abou Jamra Arndt Rolfs Richard J Leventer John A Lawson Tony Roscioli Floor E Jansen Emmanuelle Ranza Christian M Korff Anna-Elina Lehesjoki Carolina Courage Tarja Linnankivi Douglas R Smith Christine Stanley Mark Mintz Dianalee McKnight Amy Decker Wen-Hann Tan Mark A Tarnopolsky Lauren I Brady Markus Wolff Lutz Dondit Helio F Pedro Sarah E Parisotto Kelly L Jones Anup D Patel David N Franz Rena Vanzo Elysa Marco Judith D Ranells Nataliya Di Donato William B Dobyns Bodo Laube Stephen F Traynelis Johannes R Lemke

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.

View Article

Download full-text PDF

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

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

Authors:
Désirée Y van Haaften-Visser Magdalena Harakalova Enric Mocholi Joris M van Montfrans Abdul Elkadri Ester Rieter Karoline Fiedler Peter M van Hasselt Emily M M Triffaux Mieke M van Haelst Isaac J Nijman Wigard P Kloosterman Edward E S Nieuwenhuis Aleixo M Muise Edwin Cuppen Roderick H J Houwen Paul J Coffer

J Biol Chem 2017 05 16;292(19):7904-7920. Epub 2017 Mar 16.

From the Division of Pediatrics, Wilhelmina Children's Hospital,

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1074/jbc.M116.772038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427269PMC
May 2017

Clinical utility gene card for: Cantú syndrome.

Authors:
Edwin P Kirk Ingrid Scurr Gijs van Haaften Mieke M van Haelst Colin G Nichols Maggie Williams Sarah F Smithson Dorothy K Grange

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.

View Article

Download full-text PDF

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

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Authors:
Christel Depienne Caroline Nava Boris Keren Solveig Heide Agnès Rastetter Sandrine Passemard Sandra Chantot-Bastaraud Marie-Laure Moutard Pankaj B Agrawal Grace VanNoy Joan M Stoler David J Amor Thierry Billette de Villemeur Diane Doummar Caroline Alby Valérie Cormier-Daire Catherine Garel Pauline Marzin Sophie Scheidecker Anne de Saint-Martin Edouard Hirsch Christian Korff Armand Bottani Laurence Faivre Alain Verloes Christine Orzechowski Lydie Burglen Bruno Leheup Joelle Roume Joris Andrieux Frenny Sheth Chaitanya Datar Michael J Parker Laurent Pasquier Sylvie Odent Sophie Naudion Marie-Ange Delrue Cédric Le Caignec Marie Vincent Bertrand Isidor Florence Renaldo Fiona Stewart Annick Toutain Udo Koehler Birgit Häckl Celina von Stülpnagel Gerhard Kluger Rikke S Møller Deb Pal Tord Jonson Maria Soller Nienke E Verbeek Mieke M van Haelst Carolien de Kovel Bobby Koeleman Glen Monroe Gijs van Haaften Tania Attié-Bitach Lucile Boutaud Delphine Héron Cyril Mignot

Hum Genet 2017 04 10;136(4):463-479. Epub 2017 Mar 10.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00439-017-1772-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360844PMC
April 2017

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

Authors:
Noa Lipstein Nanda M Verhoeven-Duif Francesco E Michelassi Nathaniel Calloway Peter M van Hasselt Katarzyna Pienkowska Gijs van Haaften Mieke M van Haelst Ron van Empelen Inge Cuppen Heleen C van Teeseling Annemieke M V Evelein Jacob A Vorstman Sven Thoms Olaf Jahn Karen J Duran Glen R Monroe Timothy A Ryan Holger Taschenberger Jeremy S Dittman Jeong-Seop Rhee Gepke Visser Judith J Jans Nils Brose

J Clin Invest 2017 Mar 13;127(3):1005-1018. Epub 2017 Feb 13.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1172/JCI90259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330740PMC
March 2017

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Authors:
Glen R Monroe Gerardus W Frederix Sanne M C Savelberg Tamar I de Vries Karen J Duran Jasper J van der Smagt Paulien A Terhal Peter M van Hasselt Hester Y Kroes Nanda M Verhoeven-Duif Isaäc J Nijman Ellen C Carbo Koen L van Gassen Nine V Knoers Anke M Hövels Mieke M van Haelst Gepke Visser Gijs van Haaften

Genet Med 2016 09 4;18(9):949-56. Epub 2016 Feb 4.

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

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/gim2015200
Publisher Site
http://dx.doi.org/10.1038/gim.2015.200DOI Listing
September 2016

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

Authors:
Iris M de Lange Annemarie A Verrijn Stuart Rob B van der Luijt Hans Kristian Ploos van Amstel Mieke M van Haelst

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.

View Article

Download full-text PDF

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

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Authors:
Tamar I de Vries Glen R Monroe Martine J van Belzen Christian A van der Lans Sanne Mc Savelberg William G Newman Gijs van Haaften Rutger A Nievelstein Mieke M van Haelst

Eur J Hum Genet 2016 08 9;24(9):1363-6. Epub 2016 Mar 9.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ejhg.2016.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989203PMC
August 2016

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Authors:
Marijn F Stokman Machteld M Oud Ellen van Binsbergen Gisela G Slaats Nayia Nicolaou Kirsten Y Renkema Isaac J Nijman Ronald Roepman Rachel H Giles Heleen H Arts Nine V A M Knoers Mieke M van Haelst

Am J Med Genet A 2016 06 19;170(6):1566-9. Epub 2016 Feb 19.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.37598DOI Listing
June 2016

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Authors:
Dragana J Josifova Glen R Monroe Federico Tessadori Esther de Graaff Bert van der Zwaag Sarju G Mehta Magdalena Harakalova Karen J Duran Sanne M C Savelberg Isaäc J Nijman Heinz Jungbluth Casper C Hoogenraad Jeroen Bakkers Nine V Knoers Helen V Firth Philip L Beales Gijs van Haaften Mieke M van Haelst

Hum Mol Genet 2016 06 22;25(11):2158-2167. Epub 2016 Mar 22.

Department of Genetics

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddw082DOI Listing
June 2016

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Authors:
Brieana Fregeau Bum Jun Kim Andrés Hernández-García Valerie K Jordan Megan T Cho Rhonda E Schnur Kristin G Monaghan Jane Juusola Jill A Rosenfeld Elizabeth Bhoj Elaine H Zackai Stephanie Sacharow Kristin Barañano Daniëlle G M Bosch Bert B A de Vries Kristin Lindstrom Audrey Schroeder Philip James Peggy Kulch Seema R Lalani Mieke M van Haelst Koen L I van Gassen Ellen van Binsbergen A James Barkovich Daryl A Scott Elliott H Sherr

Am J Hum Genet 2016 May 14;98(5):963-970. Epub 2016 Apr 14.

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2016.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863473PMC
May 2016

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

Authors:
Suzanne I M Alsters Anthony P Goldstone Jessica L Buxton Anna Zekavati Alona Sosinsky Andrianos M Yiorkas Susan Holder Robert E Klaber Nicola Bridges Mieke M van Haelst Carel W le Roux Andrew J Walley Robin G Walters Michael Mueller Alexandra I F Blakemore

PLoS One 2015 29;10(6):e0131417. Epub 2015 Jun 29.

Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131417PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485893PMC
March 2016

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.

Authors:
Shirley Lo-A-Njoe Lars T van der Veken Clementien Vermont Louise Rafael-Croes Vincent Keizer Ron Hochstenbach Nine Knoers Mieke M van Haelst

Case Rep Genet 2016 31;2016:2861653. Epub 2016 Jan 31.

Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1155/2016/2861653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752968PMC
March 2016

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Authors:
Charlotte W Ockeloen Marjolein H Willemsen Sonja de Munnik Bregje W M van Bon Nicole de Leeuw Aad Verrips Sarina G Kant Elizabeth A Jones Han G Brunner Rosa L E van Loon Eric E J Smeets Mieke M van Haelst Gijs van Haaften Ann Nordgren Helena Malmgren Giedre Grigelioniene Sascha Vermeer Pedro Louro Lina Ramos Thomas J J Maal Celeste C van Heumen Helger G Yntema Carine E L Carels Tjitske Kleefstra

Eur J Hum Genet 2015 Sep 26;23(9):1176-85. Epub 2014 Nov 26.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ejhg.2014.253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538199PMC
September 2015

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

Authors:
Charlotte W Ockeloen Marjolein H Willemsen Sonja de Munnik Bregje W M van Bon Nicole de Leeuw Aad Verrips Sarina G Kant Elizabeth A Jones Han G Brunner Rosa L E van Loon Eric E J Smeets Mieke M van Haelst Gijs van Haaften Ann Nordgren Helena Malmgren Giedre Grigelioniene Sascha Vermeer Pedro Louro Lina Ramos Thomas J J Maal Celeste C van Heumen Helger G Yntema Carine E L Carels Tjitske Kleefstra

Eur J Hum Genet 2015 Sep;23(9):1270

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ejhg.2015.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538192PMC
September 2015

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:
Shannon Marchegiani Taylor Davis Federico Tessadori Gijs van Haaften Francesco Brancati Alexander Hoischen Haigen Huang Elise Valkanas Barbara Pusey Denny Schanze Hanka Venselaar Anneke T Vulto-van Silfhout Lynne A Wolfe Cynthia J Tifft Patricia M Zerfas Giovanna Zambruno Ariana Kariminejad Farahnaz Sabbagh-Kermani Janice Lee Maria G Tsokos Chyi-Chia R Lee Victor Ferraz Eduarda Morgana da Silva Cathy A Stevens Nathalie Roche Oliver Bartsch Peter Farndon Eva Bermejo-Sanchez Brian P Brooks Valerie Maduro Bruno Dallapiccola Feliciano J Ramos Hon-Yin Brian Chung Cédric Le Caignec Fabiana Martins Witold K Jacyk Laura Mazzanti Han G Brunner Jeroen Bakkers Shuo Lin May Christine V Malicdan Cornelius F Boerkoel William A Gahl Bert B A de Vries Mieke M van Haelst Martin Zenker Thomas C Markello

Am J Hum Genet 2015 Jul 25;97(1):99-110. Epub 2015 Jun 25.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2015.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572501PMC
July 2015

Non-invasive sources of cells with primary cilia from pediatric and adult patients.

Authors:
Henry Ajzenberg Gisela G Slaats Marijn F Stokman Heleen H Arts Ive Logister Hester Y Kroes Kirsten Y Renkema Mieke M van Haelst Paulien A Terhal Iris A van Rooij Mandy G Keijzer-Veen Nine V Knoers Marc R Lilien Michael A Jewett Rachel H Giles

Cilia 2015 1;4. Epub 2015 Jun 1.

Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s13630-015-0017-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450497PMC
June 2015

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Authors:
Eugenia Migliavacca Christelle Golzio Katrin Männik Ian Blumenthal Edwin C Oh Louise Harewood Jack A Kosmicki Maria Nicla Loviglio Giuliana Giannuzzi Loyse Hippolyte Anne M Maillard Ali Abdullah Alfaiz Mieke M van Haelst Joris Andrieux James F Gusella Mark J Daly Jacques S Beckmann Sébastien Jacquemont Michael E Talkowski Nicholas Katsanis Alexandre Reymond

Am J Hum Genet 2015 May 30;96(5):784-96. Epub 2015 Apr 30.

Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2015.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570289PMC
May 2015

Further confirmation of the MED13L haploinsufficiency syndrome.

Authors:
Mieke M van Haelst Glen R Monroe Karen Duran Ellen van Binsbergen Johannes M Breur Jacques C Giltay Gijs van Haaften

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.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/ejhg201469
Publisher Site
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.

Authors:
Tamar I de Vries Mieke M van Haelst

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

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

View Article

Download full-text PDF

 Source
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.

Authors:
W Ludo van der Pol Jolien F Leijenaar Wim G M Spliet Selma W Lavrijsen Nicolaas J G Jansen Kees P J Braun Marcel Mulder Brigitte Timmers-Raaijmakers Kimberly Ratsma Dennis Dooijes Mieke M van Haelst

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Ellen van Binsbergen Richard J Ellis Nadia Abdelmalik Joanna Jarvis Kashmir Randhawa Josephine Wyatt-Ashmead Natalie Canham J Guy Thorpe-Beeston Grazia M S Mancini Mieke M Van Haelst

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.

View Article

Download full-text PDF

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

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

Authors:
Saskia N van der Crabben Magdalena Harakalova Eva H Brilstra Frédérique M C van Berkestijn Floris C Hofstede Adrianus J van Vught Edwin Cuppen Wigard Kloosterman Hans Kristian Ploos van Amstel Gijs van Haaften Mieke M van Haelst

Am J Med Genet A 2014 Jan 20;164A(1):29-35. Epub 2013 Nov 20.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.36184DOI Listing
January 2014

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Authors:
Denny Schanze Magdalena Harakalova Cathy A Stevens Francesco Brancati Bruno Dallapiccola Peter Farndon Victor E F Ferraz Donna M McDonald-McGinn Elaine H Zackai Michael Wright Stef van Lieshout Maartje J Vogel Mieke M van Haelst Martin Zenker

Am J Med Genet A 2013 Dec 24;161A(12):3012-7. Epub 2013 Sep 24.

Institute of Human Genetics, University Hospital Magdeburg, Germany.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.36119DOI Listing
December 2013

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Authors:
Annette F Baas Michael Gabbett Milan Rimac Minttu Kansikas Martine Raphael Rutger Aj Nievelstein Wayne Nicholls Johan Offerhaus Danielle Bodmer Annekatrin Wernstedt Birgit Krabichler Ulrich Strasser Minna Nyström Johannes Zschocke Stephen P Robertson Mieke M van Haelst Katharina Wimmer

Eur J Hum Genet 2013 Jan 13;21(1):55-61. Epub 2012 Jun 13.

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

View Article

Download full-text PDF

 Source
http://www.nature.com/doifinder/10.1038/ejhg.2012.117
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522206PMC
January 2013

Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.

Authors:
Joram D Mul Denovan P Begg Suzanne I M Alsters Gijs van Haaften Karen J Duran David A D'Alessio Carel W le Roux Stephen C Woods Darleen A Sandoval Alexandra I F Blakemore Edwin Cuppen Mieke M van Haelst Randy J Seeley

Am J Physiol Endocrinol Metab 2012 Jul 24;303(1):E103-10. Epub 2012 Apr 24.

Metabolic Diseases Institute, University of Cincinnati, Cincinnati, OH, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1152/ajpendo.00159.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404562PMC
July 2012

Mutations in GRIP1 cause Fraser syndrome.

Authors:
Maartje J Vogel Patrick van Zon Louise Brueton Marleen Gijzen Marc C van Tuil Phillip Cox Denny Schanze Ariana Kariminejad Siavash Ghaderi-Sohi Edward Blair Martin Zenker Peter J Scambler Hans Kristian Ploos van Amstel Mieke M van Haelst

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.

View Article

Download full-text PDF

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

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:
Magdalena Harakalova Jeske J T van Harssel Paulien A Terhal Stef van Lieshout Karen Duran Ivo Renkens David J Amor Louise C Wilson Edwin P Kirk Claire L S Turner Debbie Shears Sixto Garcia-Minaur Melissa M Lees Alison Ross Hanka Venselaar Gert Vriend Hiroki Takanari Martin B Rook Marcel A G van der Heyden Folkert W Asselbergs Hans M Breur Marielle E Swinkels Ingrid J Scurr Sarah F Smithson Nine V Knoers Jasper J van der Smagt Isaac J Nijman Wigard P Kloosterman Mieke M van Haelst Gijs van Haaften Edwin Cuppen

Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ng.2324DOI Listing
May 2012

Ablepharon-Macrostomia syndrome--extension of the phenotype.

Authors:
Staci Kallish Donna M McDonald-McGinn Mieke M van Haelst Scott P Bartlett James A Katowitz Elaine H Zackai

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.

View Article

Download full-text PDF

 Source
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.

View Article

Download full-text PDF

 Source
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.

Authors:
Adam J de Smith Mieke M van Haelst Richard J Ellis Susan E Holder Stewart J Payne Sugera K Hashim Philippe Froguel Alexandra I F Blakemore

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.

View Article

Download full-text PDF

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

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

Authors:
Adam J de Smith Carolin Purmann Robin G Walters Richard J Ellis Susan E Holder Mieke M Van Haelst Angela F Brady Una L Fairbrother Mehul Dattani Julia M Keogh Elana Henning Giles S H Yeo Stephen O'Rahilly Philippe Froguel I Sadaf Farooqi Alexandra I F Blakemore

Hum Mol Genet 2009 Sep 4;18(17):3257-65. Epub 2009 Jun 4.

Section of Genomic Medicine, Imperial College London, Hammersmith Hospital Campus, London, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddp263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722987PMC
September 2009

Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup).

Authors:
Mieke M van Haelst Rubin Wang Piranit N Kantaputra Rodger Palmer Philip Beales

Am J Med Genet A 2009 Feb;149A(4):833-4

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.32722DOI Listing
February 2009

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

Authors:
Mieke M van Haelst Peter J Scambler Raoul C M Hennekam

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

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

View Article

Download full-text PDF

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

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Authors:
Stephen P Robertson Zandra A Jenkins Timothy Morgan Lesley Adès Salim Aftimos Odile Boute Torunn Fiskerstrand Sixto Garcia-Miñaur Arthur Grix Andrew Green Vazken Der Kaloustian Ray Lewkonia Brenda McInnes Mieke M van Haelst Grazia Mancini Grazia Macini Tamás Illés Geert Mortier Ruth Newbury-Ecob Linda Nicholson Charles I Scott Karolina Ochman Izabela Brozek Deborah J Shears Andrea Superti-Furga Mohnish Suri Margo Whiteford Andrew O M Wilkie Deborah Krakow

Am J Med Genet A 2006 Aug;140(16):1726-36

Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.31322DOI Listing
August 2006

Familial gigantism caused by an NSD1 mutation.

Authors:
Mieke M van Haelst Jeannette J M Hoogeboom Genevieve Baujat Hennie T Brüggenwirth Ingrid Van de Laar Kim Coleman Nazneen Rahman Martinus F Niermeijer Sten L S Drop Peter J Scambler

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

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

View Article

Download full-text PDF

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

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Authors:
Yanli Fan Muneer A Esmail Stephen J Ansley Oliver E Blacque Keith Boroevich Alison J Ross Susan J Moore Jose L Badano Helen May-Simera Deanna S Compton Jane S Green Richard Alan Lewis Mieke M van Haelst Patrick S Parfrey David L Baillie Philip L Beales Nicholas Katsanis William S Davidson Michel R Leroux

Nat Genet 2004 Sep 15;36(9):989-93. Epub 2004 Aug 15.

Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, B.C. V5A 1S6, Canada.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ng1414DOI Listing
September 2004