Ingrid van Laar

Ingrid van de Laar

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Ingrid van Laar

Ingrid van de Laar

Publications by authors named "Ingrid van de Laar"

42Publications

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1PubMed Central Citations

Biallelic Variants in , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Authors:
Judith M A Verhagen Myrthe van den Born Herma C van der Linde Peter G J Nikkels Rob M Verdijk Maryann H Kivlen Leontine M A van Unen Annette F Baas Henriette Ter Heide Lennie van Osch-Gevers Marianne Hoogeveen-Westerveld Johanna C Herkert Aida M Bertoli-Avella Marjon A van Slegtenhorst Marja W Wessels Frans W Verheijen David Hassel Robert M W Hofstra Ramanujan S Hegde Peter M van Hasselt Tjakko J van Ham Ingrid M B H van de Laar

Circ Genom Precis Med 2019 Sep 28;12(9):397-406. Epub 2019 Aug 28.

Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.

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http://dx.doi.org/10.1161/CIRCGEN.119.002507DOI Listing
September 2019

Variants in DOCK3 cause developmental delay and hypotonia.

Authors:
Kimberly Wiltrout Alejandro Ferrer Ingrid van de Laar Kazuhiko Namekata Takayuki Harada Eric W Klee Michael T Zimmerman Margot A Cousin Jennifer L Kempainen Dusica Babovic-Vuksanovic Marjon A van Slegtenhorst Coranne D Aarts-Tesselaar Rhonda E Schnur Marisa Andrews Marwan Shinawi

Eur J Hum Genet 2019 Aug 11;27(8):1225-1234. Epub 2019 Apr 11.

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/s41431-019-0397-2DOI Listing
August 2019

Psychological well-being in patients with aneurysms-osteoarthritis syndrome.

Authors:
Lidia R Bons Allard T van den Hoven Ayda E Damirchi Denise van der Linde Silvy Dekker Robert M Kauling Ingrid M B H van de Laar Elisabeth M W J Utens Ricardo P J Budde Jolien W Roos-Hesselink

Am J Med Genet A 2019 Aug 27;179(8):1491-1497. Epub 2019 May 27.

Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61209
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http://dx.doi.org/10.1002/ajmg.a.61209DOI Listing
August 2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Authors:
Hanneke A Haijes Maria J E Koster Holger Rehmann Dong Li Hakon Hakonarson Gerarda Cappuccio Miroslava Hancarova Daphne Lehalle Willie Reardon G Bradley Schaefer Anna Lehman Ingrid M B H van de Laar Coranne D Tesselaar Clesson Turner Alice Goldenberg Sophie Patrier Julien Thevenon Michele Pinelli Nicola Brunetti-Pierri Darina Prchalová Markéta Havlovicová Markéta Vlckova Zdeněk Sedláček Elena Lopez Vassilis Ragoussis Alistair T Pagnamenta Usha Kini Harmjan R Vos Robert M van Es Richard F M A van Schaik Ton A J van Essen Maria Kibaek Jenny C Taylor Jennifer Sullivan Vandana Shashi Slave Petrovski Christina Fagerberg Donna M Martin Koen L I van Gassen Rolph Pfundt Marni J Falk Elizabeth M McCormick H T Marc Timmers Peter M van Hasselt

Am J Hum Genet 2019 Aug 25;105(2):283-301. Epub 2019 Jul 25.

Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699192PMC
August 2019

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

Authors:
Julie De Backer Antoine Bondue Werner Budts Arturo Evangelista Pastora Gallego Guillaume Jondeau Bart Loeys Maria L Peña Gisela Teixido-Tura Ingrid van de Laar Aline Verstraeten Jolien Roos Hesselink

Eur J Prev Cardiol 2019 Jun 11:2047487319854552. Epub 2019 Jun 11.

2 European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group.

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http://dx.doi.org/10.1177/2047487319854552DOI Listing
June 2019

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

Authors:
Krystien V V Lieve Judith M A Verhagen Jinhong Wei J Martijn Bos Christian van der Werf Ferran Rosés I Noguer Grazia M S Mancini Wenting Guo Ruiwu Wang Freek van den Heuvel Ingrid M E Frohn-Mulder Wataru Shimizu Akihiko Nogami Hitoshi Horigome Jason D Roberts Antoine Leenhardt Harry J G Crijns Andreas C Blank Takeshi Aiba Ans C P Wiesfeld Nico A Blom Naokata Sumitomo Jan Till Michael J Ackerman S R Wayne Chen Ingrid M B H van de Laar Arthur A M Wilde

Heart Rhythm 2019 Feb 28;16(2):220-228. Epub 2018 Aug 28.

AMC Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.08.025DOI Listing
February 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Authors:
Danique R M Vlaskamp Benjamin J Shaw Rosemary Burgess Davide Mei Martino Montomoli Han Xie Candace T Myers Mark F Bennett Wenshu XiangWei Danielle Williams Saskia M Maas Alice S Brooks Grazia M S Mancini Ingrid M B H van de Laar Johanna M van Hagen Tyson L Ware Richard I Webster Stephen Malone Samuel F Berkovic Renate M Kalnins Federico Sicca G Christoph Korenke Conny M A van Ravenswaaij-Arts Michael S Hildebrand Heather C Mefford Yuwu Jiang Renzo Guerrini Ingrid E Scheffer

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Authors:
Judith M A Verhagen Myrthe van den Born Serife Kurul Angeliki Asimaki Ingrid M B H van de Laar Ingrid M E Frohn-Mulder Janneke A E Kammeraad Sing C Yap Margot M Bartelings Marjon A van Slegtenhorst Jan H von der Thüsen Marja W Wessels

Circ Genom Precis Med 2018 12;11(12):e002397

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.M.A.V., M.v.d.B., S.K., I.M.B.H.v.d.L., M.A.v.S., M.W.W.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002397DOI Listing
December 2018

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Authors:
Judith M A Verhagen Job H Veldman Paul A van der Zwaag Jan H von der Thüsen Erwin Brosens Imke Christiaans Dennis Dooijes Apollonia T J M Helderman-van den Enden Ronald H Lekanne Deprez Michelle Michels Anneke M van Mil Rogier A Oldenburg Jasper J van der Smagt Arthur van den Wijngaard Marja W Wessels Robert M W Hofstra Marjon A van Slegtenhorst Jan D H Jongbloed Ingrid M B H van de Laar

Eur J Hum Genet 2018 11 9;26(11):1603-1610. Epub 2018 Jul 9.

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

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http://dx.doi.org/10.1038/s41431-018-0208-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189092PMC
November 2018

Aortic Dimensions and Clinical Outcome in Patients With SMAD3 Mutations.

Authors:
A T van den Hoven Lidia R Bons Sara J Baart Adriaan Moelker Ingrid M B H van de Laar Annemien E van den Bosch Jos A Bekkers Hence J M Verhagen Denise van der Linde Jolien W Roos-Hesselink

Circ Genom Precis Med 2018 11;11(11):e002329

Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (A.T.v.d.H., L.R.B., A.E.v.d.B., D.v.d.L., J.W.R.-H.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002329DOI Listing
November 2018

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Authors:
Dorien Schepers Giada Tortora Hiroko Morisaki Gretchen MacCarrick Mark Lindsay David Liang Sarju G Mehta Jennifer Hague Judith Verhagen Ingrid van de Laar Marja Wessels Yvonne Detisch Mieke van Haelst Annette Baas Klaske Lichtenbelt Kees Braun Denise van der Linde Jolien Roos-Hesselink George McGillivray Josephina Meester Isabelle Maystadt Paul Coucke Elie El-Khoury Sandhya Parkash Birgitte Diness Lotte Risom Ingrid Scurr Yvonne Hilhorst-Hofstee Takayuki Morisaki Julie Richer Julie Désir Marlies Kempers Andrea L Rideout Gabrielle Horne Chris Bennett Elisa Rahikkala Geert Vandeweyer Maaike Alaerts Aline Verstraeten Hal Dietz Lut Van Laer Bart Loeys

Hum Mutat 2018 05 6;39(5):621-634. Epub 2018 Mar 6.

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

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http://dx.doi.org/10.1002/humu.23407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947146PMC
May 2018

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

Authors:
Judith M A Verhagen Marlies Kempers Luc Cozijnsen Berto J Bouma Anthonie L Duijnhouwer Jan G Post Yvonne Hilhorst-Hofstee Sebastiaan C A M Bekkers Wilhelmina S Kerstjens-Frederikse Thomas J van Brakel Eric Lambermon Marja W Wessels Bart L Loeys Jolien W Roos-Hesselink Ingrid M B H van de Laar

Int J Cardiol 2018 05 7;258:243-248. Epub 2018 Feb 7.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2018.01.145DOI Listing
May 2018

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Authors:
Iris H I M Hollink Majid Alfadhel Anwar S Al-Wakeel Farough Ababneh Rolph Pfundt Stella A de Man Rami Abou Jamra Arndt Rolfs Aida M Bertoli-Avella Ingrid M B H van de Laar

J Hum Genet 2018 04 8;63(4):539. Epub 2018 Mar 8.

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

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http://www.nature.com/articles/s10038-017-0373-z
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http://dx.doi.org/10.1038/s10038-017-0373-zDOI Listing
April 2018

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: as an Important Contributor.

Authors:
Elisabeth Gillis Ajay A Kumar Ilse Luyckx Christoph Preuss Elyssa Cannaerts Gerarda van de Beek Björn Wieschendorf Maaike Alaerts Nikhita Bolar Geert Vandeweyer Josephina Meester Florian Wünnemann Russell A Gould Rustam Zhurayev Dmytro Zerbino Salah A Mohamed Seema Mital Luc Mertens Hanna M Björck Anders Franco-Cereceda Andrew S McCallion Lut Van Laer Judith M A Verhagen Ingrid M B H van de Laar Marja W Wessels Emmanuel Messas Guillaume Goudot Michaela Nemcikova Alice Krebsova Marlies Kempers Simone Salemink Toon Duijnhouwer Xavier Jeunemaitre Juliette Albuisson Per Eriksson Gregor Andelfinger Harry C Dietz Aline Verstraeten Bart L Loeys

Front Physiol 2017 25;8:730. Epub 2017 Sep 25.

Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.

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http://dx.doi.org/10.3389/fphys.2017.00730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622312PMC
September 2017

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: as an Important Contributor.

Authors:
Elisabeth Gillis Ajay A Kumar Ilse Luyckx Christoph Preuss Elyssa Cannaerts Gerarda van de Beek Björn Wieschendorf Maaike Alaerts Nikhita Bolar Geert Vandeweyer Josephina Meester Florian Wünnemann Russell A Gould Rustam Zhurayev Dmytro Zerbino Salah A Mohamed Seema Mital Luc Mertens Hanna M Björck Anders Franco-Cereceda Andrew S McCallion Lut Van Laer Judith M A Verhagen Ingrid M B H van de Laar Marja W Wessels Emmanuel Messas Guillaume Goudot Michaela Nemcikova Alice Krebsova Marlies Kempers Simone Salemink Toon Duijnhouwer Xavier Jeunemaitre Juliette Albuisson Per Eriksson Gregor Andelfinger Harry C Dietz Aline Verstraeten Bart L Loeys

Front Physiol 2017 13;8:400. Epub 2017 Jun 13.

Faculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.

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http://dx.doi.org/10.3389/fphys.2017.00400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469151PMC
June 2017

Pregnancy in Women With SMAD3 Mutation.

Authors:
Iris M van Hagen Denise van der Linde Ingrid M B H van de Laar Laura Muiño Mosquera Julie De Backer Jolien W Roos-Hesselink

J Am Coll Cardiol 2017 03;69(10):1356-1358

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http://dx.doi.org/10.1016/j.jacc.2016.12.029DOI Listing
March 2017

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.

Authors:
Wilhelmina S Kerstjens-Frederikse Ingrid M B H van de Laar Yvonne J Vos Judith M A Verhagen Rolf M F Berger Klaske D Lichtenbelt Jolien S Klein Wassink-Ruiter Paul A van der Zwaag Gideon J du Marchie Sarvaas Klasien A Bergman Catia M Bilardo Jolien W Roos-Hesselink Johan H P Janssen Ingrid M Frohn-Mulder Karin Y van Spaendonck-Zwarts Joost P van Melle Robert M W Hofstra M W Wessels

Genet Med 2016 09 28;18(9):914-23. Epub 2016 Jan 28.

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

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http://dx.doi.org/10.1038/gim.2015.193DOI Listing
September 2016

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Authors:
Iris H I M Hollink Majid Alfadhel Anwar S Al-Wakeel Farough Ababneh Rolph Pfundt Stella A de Man Rami Abou Jamra Arndt Rolfs Aida M Bertoli-Avella Ingrid M B H van de Laar

J Hum Genet 2016 Mar 26;61(3):229-33. Epub 2015 Nov 26.

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

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http://dx.doi.org/10.1038/jhg.2015.134DOI Listing
March 2016

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

Authors:
Rowida Almomani Judith M A Verhagen Johanna C Herkert Erwin Brosens Karin Y van Spaendonck-Zwarts Angeliki Asimaki Paul A van der Zwaag Ingrid M E Frohn-Mulder Aida M Bertoli-Avella Ludolf G Boven Marjon A van Slegtenhorst Jasper J van der Smagt Wilfred F J van IJcken Bert Timmer Margriet van Stuijvenberg Rob M Verdijk Jeffrey E Saffitz Frederik A du Plessis Michelle Michels Robert M W Hofstra Richard J Sinke J Peter van Tintelen Marja W Wessels Jan D H Jongbloed Ingrid M B H van de Laar

J Am Coll Cardiol 2016 Feb;67(5):515-25

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

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http://dx.doi.org/10.1016/j.jacc.2015.10.093DOI Listing
February 2016

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Authors:
Delfien Syx Tim Van Damme Sofie Symoens Merel C Maiburg Ingrid van de Laar Jenny Morton Mohnish Suri Miguel Del Campo Ingrid Hausser Trinh Hermanns-Lê Anne De Paepe Fransiska Malfait

Hum Mutat 2015 May 6;36(5):535-47. Epub 2015 Apr 6.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.22774DOI Listing
May 2015

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Authors:
Aida M Bertoli-Avella Elisabeth Gillis Hiroko Morisaki Judith M A Verhagen Bianca M de Graaf Gerarda van de Beek Elena Gallo Boudewijn P T Kruithof Hanka Venselaar Loretha A Myers Steven Laga Alexander J Doyle Gretchen Oswald Gert W A van Cappellen Itaru Yamanaka Robert M van der Helm Berna Beverloo Annelies de Klein Luba Pardo Martin Lammens Christina Evers Koenraad Devriendt Michiel Dumoulein Janneke Timmermans Hennie T Bruggenwirth Frans Verheijen Inez Rodrigus Gareth Baynam Marlies Kempers Johan Saenen Emeline M Van Craenenbroeck Kenji Minatoya Ritsu Matsukawa Takuro Tsukube Noriaki Kubo Robert Hofstra Marie Jose Goumans Jos A Bekkers Jolien W Roos-Hesselink Ingrid M B H van de Laar Harry C Dietz Lut Van Laer Takayuki Morisaki Marja W Wessels Bart L Loeys

J Am Coll Cardiol 2015 Apr;65(13):1324-1336

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands. Electronic address:

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http://content.onlinejacc.org/data/Journals/JAC/933667/01040
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http://linkinghub.elsevier.com/retrieve/pii/S073510971500403
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http://dx.doi.org/10.1016/j.jacc.2015.01.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380321PMC
April 2015

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Authors:
Ellen A Croonen Willy M Nillesen Kyra E Stuurman Gretel Oudesluijs Ingrid M B M van de Laar Liesbeth Martens Charlotte Ockeloen Inge B Mathijssen Marga Schepens Martina Ruiterkamp-Versteeg Hans Scheffer Brigitte H W Faas Ineke van der Burgt Helger G Yntema

Eur J Hum Genet 2013 Sep 16;21(9):936-42. Epub 2013 Jan 16.

Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746261PMC
September 2013

[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].

Authors:
Denise van der Linde Ingrid M B H van de Laar Adriaan Moelker Marja W Wessels Aida M Bertoli-Avella Jolien W Roos-Hesselink

Ned Tijdschr Geneeskd 2013 ;157(21):A5588

Erasmus MC, Afd. Cardiologie, Rotterdam, the Netherlands.

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July 2013

[22q11.2 deletion syndrome diagnosed in an adult male].

Authors:
Robert-Jan Hassing Judith M A Verhagen Ingrid M B H van de Laar Paul L A van Daele

Ned Tijdschr Geneeskd 2011 ;155(40):A3644

Erasmus Medisch Centrum, Afd. Interne Geneeskunde, Rotterdam, the Netherlands.

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May 2013

Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.

Authors:
Denise van der Linde Jos A Bekkers Francesco U S Mattace-Raso Ingrid M B H van de Laar Adriaan Moelker Annemien E van den Bosch Bas M van Dalen Janneke Timmermans Aida M Bertoli-Avella Marja W Wessels Ad J J C Bogers Jolien W Roos-Hesselink

Ann Thorac Surg 2013 Feb 30;95(2):563-9. Epub 2012 Aug 30.

Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.athoracsur.2012.07.009DOI Listing
February 2013

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms.

Authors:
Denise van der Linde Hence J M Verhagen Adriaan Moelker Ingrid M B H van de Laar Isabelle Van Herzeele Julie De Backer Harry C Dietz Jolien W Roos-Hesselink

J Vasc Surg 2013 Jan 11;57(1):96-102. Epub 2012 Sep 11.

Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jvs.2012.06.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044827PMC
January 2013

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.

Authors:
Rianne van Vliet Guido Breedveld Johanneke de Rijk-van Andel Eva Brilstra Nienke Verbeek Corien Verschuuren-Bemelmans Maartje Boon Johnny Samijn Karin Diderich Ingrid van de Laar Ben Oostra Vincenzo Bonifati Anneke Maat-Kievit

Neurology 2012 Aug 8;79(8):777-84. Epub 2012 Aug 8.

Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

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http://www.neurology.org/content/early/2012/08/08/WNL.0b013e
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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182661fe
Publisher Site
http://dx.doi.org/10.1212/WNL.0b013e3182661fe3DOI Listing
August 2012

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

Authors:
Denise van der Linde Ingrid M B H van de Laar Aida M Bertoli-Avella Rogier A Oldenburg Jos A Bekkers Francesco U S Mattace-Raso Anton H van den Meiracker Adriaan Moelker Fop van Kooten Ingrid M E Frohn-Mulder Janneke Timmermans Els Moltzer Jan M Cobben Lut van Laer Bart Loeys Julie De Backer Paul J Coucke Anne De Paepe Yvonne Hilhorst-Hofstee Marja W Wessels Jolien W Roos-Hesselink

J Am Coll Cardiol 2012 Jul 23;60(5):397-403. Epub 2012 May 23.

Department of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.jacc.2011.12.052DOI Listing
July 2012

NPHP4 variants are associated with pleiotropic heart malformations.

Authors:
Vanessa M French Ingrid M B H van de Laar Marja W Wessels Christan Rohe Jolien W Roos-Hesselink Guangliang Wang Ingrid M E Frohn-Mulder Lies-Anne Severijnen Bianca M de Graaf Rachel Schot Guido Breedveld Edwin Mientjes Marianne van Tienhoven Elodie Jadot Zhengxin Jiang Annemieke Verkerk Sigrid Swagemakers Hanka Venselaar Zohreh Rahimi Hossein Najmabadi Hanne Meijers-Heijboer Esther de Graaff Wim A Helbing Rob Willemsen Koen Devriendt John W Belmont Ben A Oostra Jeffrey D Amack Aida M Bertoli-Avella

Circ Res 2012 Jun 1;110(12):1564-74. Epub 2012 May 1.

Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCRESAHA.112.269795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916111PMC
June 2012

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Authors:
Malgorzata I Srebniak Marjan Boter Gretel O Oudesluijs Titia Cohen-Overbeek Lutgarde Cp Govaerts Karin Em Diderich Renske Oegema Maarten Fcm Knapen Ingrid Mbh van de Laar Marieke Joosten Diane Van Opstal Robert-Jan H Galjaard

Mol Cytogenet 2012 Mar 13;5(1):14. Epub 2012 Mar 13.

Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1186/1755-8166-5-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328283PMC
March 2012

Saccular aneurysm within a persistent ductus arteriosus.

Authors:
Denise van der Linde Maarten Witsenburg Ingrid van de Laar Adriaan Moelker Jolien Roos-Hesselink

Lancet 2012 Feb 15;379(9816):e33. Epub 2011 Dec 15.

Department of Cardiology, Erasmus Medical Centre, Rotterdam, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(11)61352-4DOI Listing
February 2012

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

Authors:
Ingrid M B H van de Laar Denise van der Linde Edwin H G Oei Pieter K Bos Johannes H Bessems Sita M Bierma-Zeinstra Belle L van Meer Gerard Pals Rogier A Oldenburg Jos A Bekkers Adriaan Moelker Bianca M de Graaf Gabor Matyas Ingrid M E Frohn-Mulder Janneke Timmermans Yvonne Hilhorst-Hofstee Jan M Cobben Hennie T Bruggenwirth Lut van Laer Bart Loeys Julie De Backer Paul J Coucke Harry C Dietz Patrick J Willems Ben A Oostra Anne De Paepe Jolien W Roos-Hesselink Aida M Bertoli-Avella Marja W Wessels

J Med Genet 2012 Jan;49(1):47-57

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

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http://dx.doi.org/10.1136/jmedgenet-2011-100382DOI Listing
January 2012

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

Authors:
Ingrid M B H van de Laar Rogier A Oldenburg Gerard Pals Jolien W Roos-Hesselink Bianca M de Graaf Judith M A Verhagen Yvonne M Hoedemaekers Rob Willemsen Lies-Anne Severijnen Hanka Venselaar Gert Vriend Peter M Pattynama Margriet Collée Danielle Majoor-Krakauer Don Poldermans Ingrid M E Frohn-Mulder Dimitra Micha Janneke Timmermans Yvonne Hilhorst-Hofstee Sita M Bierma-Zeinstra Patrick J Willems Johan M Kros Edwin H G Oei Ben A Oostra Marja W Wessels Aida M Bertoli-Avella

Nat Genet 2011 Feb 9;43(2):121-6. Epub 2011 Jan 9.

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

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http://dx.doi.org/10.1038/ng.744DOI Listing
February 2011

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Authors:
Cornelis J J Boogerd Dennis Dooijes Aho Ilgun Inge B Mathijssen Roel Hordijk Ingrid M B H van de Laar Patrick Rump Hermine E Veenstra-Knol Antoon F M Moorman Phil Barnett Alex V Postma

Cardiovasc Res 2010 Oct 2;88(1):130-9. Epub 2010 Jun 2.

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvq178DOI Listing
October 2010

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

Authors:
Ingrid van de Laar Marja Wessels Ingrid Frohn-Mulder Michiel Dalinghaus Bianca de Graaf Marianne van Tienhoven Paul van der Moer Margreet Husen-Ebbinge Maarten Lequin Dennis Dooijes Ronald de Krijger Ben A Oostra Aida M Bertoli-Avella

Eur Heart J 2009 Oct 4;30(20):2485-92. Epub 2009 Jul 4.

Department of Clinical Genetics, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehp271DOI Listing
October 2009

Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.

Authors:
Marja W Wessels Ingrid M B H van de Laar Jolien Roos-Hesselink Sipke Strikwerda Danielle F Majoor-Krakauer Bert B A de Vries Wilhelmina S Kerstjens-Frederikse Yvonne J Vos Bianca M de Graaf Aida M Bertoli-Avella Patrick J Willems

Am J Med Genet A 2009 Feb;149A(2):216-25

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

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http://doi.wiley.com/10.1002/ajmg.a.32594
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http://dx.doi.org/10.1002/ajmg.a.32594DOI Listing
February 2009

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

Authors:
Marjolijn C J Jongmans Lies H Hoefsloot Kim P van der Donk Ronald J Admiraal Alex Magee Ingrid van de Laar Yvonne Hendriks Joke B G M Verheij Ian Walpole Han G Brunner Conny M A van Ravenswaaij

Am J Med Genet A 2008 Jan;146A(1):43-50

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

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http://dx.doi.org/10.1002/ajmg.a.31921DOI Listing
January 2008

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.

Authors:
Ingrid Van de Laar Dennis Dooijes Lies Hoefsloot Marleen Simon Jeanette Hoogeboom Koenraad Devriendt

Am J Med Genet A 2007 Nov;143A(22):2712-5

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

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http://dx.doi.org/10.1002/ajmg.a.32008DOI Listing
November 2007

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.

Authors:
Yvonne M Hoedemaekers Kadir Caliskan Danielle Majoor-Krakauer Ingrid van de Laar Michelle Michels Maarten Witsenburg Folkert J ten Cate Maarten L Simoons Dennis Dooijes

Eur Heart J 2007 Nov 17;28(22):2732-7. Epub 2007 Oct 17.

Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 50, 3015GE Rotterdam, The Netherlands.

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https://academic.oup.com/eurheartj/article-lookup/doi/10.109
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http://dx.doi.org/10.1093/eurheartj/ehm429DOI Listing
November 2007

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Authors:
Bert H Eussen Ingrid van de Laar Hannie Douben Leo van Kempen Ron Hochstenbach Stella A De Man Diane Van Opstal Annelies de Klein Pino J Poddighe

Eur J Med Genet 2007 Mar-Apr;50(2):112-9. Epub 2006 Nov 3.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.006DOI Listing
May 2007

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.

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

Cerebral oxygen saturation and electrical brain activity before, during, and up to 36 hours after arterial switch procedure in neonates without pre-existing brain damage: its relationship to neurodevelopmental outcome.

Authors:
Mona C Toet Annebeth Flinterman Ingrid van de Laar Jaap W de Vries Ger B W E Bennink Cuno S P M Uiterwaal Frank van Bel

Exp Brain Res 2005 Sep 7;165(3):343-50. Epub 2005 Jun 7.

Department of Neonatology, KE 04.123.1, University Medical Center Utrecht/ Wilhelmina Children's Hospital, P.B. 85090, 3508 Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00221-005-2300-3DOI Listing
September 2005