Publications by authors named "Ineke van der Burgt"

59Publications

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.

Am J Med Genet A 2020 Sep 18. Epub 2020 Sep 18.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.1002/ajmg.a.61835DOI Listing
September 2020

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

J Med Genet 2019 10 30;56(10):654-661. Epub 2019 Apr 30.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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http://dx.doi.org/10.1136/jmedgenet-2018-105746DOI Listing
October 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

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

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

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

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

Eur J Pediatr 2018 Aug 9;177(8):1293-1298. Epub 2018 Jun 9.

Department of Pediatrics, Radboud University Medical Center Amalia Children's hospital, P.O. Box, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-018-3183-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061046PMC
August 2018

First-year growth in children with Noonan syndrome: Associated with feeding problems?

Am J Med Genet A 2018 Apr;176(4):951-958

Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38649DOI Listing
April 2018

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

Am J Med Genet A 2017 Nov 8;173(11):2968-2972. Epub 2017 Sep 8.

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

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http://dx.doi.org/10.1002/ajmg.a.38466DOI Listing
November 2017

Motor performance in children with Noonan syndrome.

Am J Med Genet A 2017 Sep 19;173(9):2335-2345. Epub 2017 Jun 19.

Department of Rehabilitation, Pediatric Physical Therapy, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38322DOI Listing
September 2017

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

Int J Pediatr Otorhinolaryngol 2017 Jun 17;97:228-234. Epub 2017 Apr 17.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2017.04.024DOI Listing
June 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

Ophthalmology 2016 10 9;123(10):2137-46. Epub 2016 Aug 9.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420163059
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http://dx.doi.org/10.1016/j.ophtha.2016.06.061DOI Listing
October 2016

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

Am J Med Genet A 2016 09 24;170(9):2349-56. Epub 2016 Jun 24.

Radboud Institute for Health Sciences, IQ Healthcare, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37814DOI Listing
September 2016

External ear anomalies and hearing impairment in Noonan Syndrome.

Int J Pediatr Otorhinolaryngol 2015 Jun 1;79(6):874-8. Epub 2015 Apr 1.

Radboud University Medical Center, Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2015.03.021DOI Listing
June 2015

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

Case Rep Genet 2012 1;2012:949507. Epub 2012 Dec 1.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1155/2012/949507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822PMC
December 2012

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Clin Dysmorphol 2012 Oct;21(4):212-4

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

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http://dx.doi.org/10.1097/MCD.0b013e3283557231DOI Listing
October 2012

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Mol Cytogenet 2012 Jan 27;5(1). Epub 2012 Jan 27.

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

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http://dx.doi.org/10.1186/1755-8166-5-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293020PMC
January 2012

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Dis Model Mech 2011 May 24;4(3):393-9. Epub 2011 Jan 24.

Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1242/dmm.007112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097460PMC
May 2011

Neuropsychological and behavioral aspects of Noonan syndrome.

Horm Res 2009 Dec 22;72 Suppl 2:15-23. Epub 2009 Dec 22.

Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1159/000243774DOI Listing
December 2009

Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses.

Biologics 2008 Sep;2(3):409-17

Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721407PMC
http://dx.doi.org/10.2147/btt.s3053DOI Listing
September 2008

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

Nat Cell Biol 2009 Jul 14;11(7):865-72. Epub 2009 Jun 14.

Department of Systems Biology, The University of Texas M. D. Anderson Cancer Center, Houston, 77054, USA.

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http://dx.doi.org/10.1038/ncb1895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714531PMC
July 2009

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.

Am J Med Genet A 2008 May;146A(9):1225-9

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

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http://dx.doi.org/10.1002/ajmg.a.32289DOI Listing
May 2008

Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

Am J Med Genet A 2008 Feb;146A(3):350-3

Department of Pediatric Cardiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32140DOI Listing
February 2008

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.

Am J Med Genet A 2008 Feb;146A(4):496-9

Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32168DOI Listing
February 2008

Noonan syndrome: psychological and psychiatric aspects.

Am J Med Genet A 2008 Jan;146A(2):191-6

Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32115DOI Listing
January 2008

Noonan syndrome.

Orphanet J Rare Dis 2007 Jan 14;2. Epub 2007 Jan 14.

Department of Human Genetics, University Medical Centre st Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-2-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781428PMC
January 2007

Germline KRAS mutations cause Noonan syndrome.

Nat Genet 2006 Mar 12;38(3):331-6. Epub 2006 Feb 12.

Department of Pediatrics, University of California, 513 Parnassus Avenue, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1038/ng1748DOI Listing
March 2006

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Am J Med Genet A 2005 Apr;134A(2):165-70

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

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http://dx.doi.org/10.1002/ajmg.a.30598DOI Listing
April 2005

Genetics and variation in phenotype in Noonan syndrome.

Horm Res 2004 ;62 Suppl 3:56-9

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

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http://dx.doi.org/10.1159/000080500DOI Listing
June 2005

The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment.

J Pediatr Endocrinol Metab 2002 Feb;15(2):175-80

Department of Paediatric Endocrinology, University Medical Centre St. Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1515/jpem.2002.15.2.175DOI Listing
February 2002