Publications by authors named "Levinus A Bok"

33Publications

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.

Neurol Genet 2020 Jun 1;6(3):e418. Epub 2020 Apr 1.

Department of Neurology (A.C.S.K., J.N.), Maastricht University Medical Center, Maastricht; Department of Pediatrics (L.A.B.), Màxima Medical Center, Veldhoven; and Department of Clinical Genetics (A.B., A.P.A.S., M.S., M.V.), Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164965PMC
June 2020

Developmental dysplasia of the hip in children with Down syndrome: comparison of clinical and radiological examinations in a local cohort.

Eur J Pediatr 2019 Apr 1;178(4):559-564. Epub 2019 Feb 1.

Department of Pediatrics and Neonatology, Máxima Medical Center, PO Box no. 7777, 5500, MB, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1007/s00431-019-03322-xDOI Listing
April 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

Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.

Neurology 2018 07 6;91(1):e78-e86. Epub 2018 Jun 6.

From the Division of Pediatric Neurology (G.O., S.M.G.), Departments of Neurology and Pediatrics, University of Washington, and Seattle Children's Hospital; Division of Craniofacial Medicine (A.M.M.), Department of Pediatrics, University of Washington and Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute; Department of Radiology (S.D.F., S.L.P., C.B.B., J.N.W.), Seattle Children's Hospital, WA; and Department of Pediatrics (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands.

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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.0000000000005748DOI Listing
July 2018

Parry Romberg syndrome presenting with a giant intracranial aneurysm: a case report.

Oxf Med Case Reports 2017 May 30;2017(5):omx017. Epub 2017 May 30.

Department of Paediatrics, Máxima Medical Center, 5504 DB Veldhoven, The Netherlands.

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http://dx.doi.org/10.1093/omcr/omx017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448459PMC
May 2017

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

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

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

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

Commentary on clinical significance of CYP2C9-status-guided valproic acid therapy in children.

Epilepsia 2016 08;57(8):1338-9

Department of Pediatrics, Maxima Medical Center, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1111/epi.13452DOI Listing
August 2016

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

J Inherit Metab Dis 2016 09 24;39(5):733-741. Epub 2016 Jun 24.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-016-9955-8DOI Listing
September 2016

Prevalence of systemic air-embolism after prolonged cardiopulmonary resuscitation in newborns: A pilot study.

Resuscitation 2015 Aug 16;93:96-101. Epub 2015 Jun 16.

Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.resuscitation.2015.06.007DOI Listing
August 2015

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 2015

Callosal alterations in pyridoxine-dependent epilepsy.

Dev Med Child Neurol 2014 Nov 18;56(11):1106-10. Epub 2014 Jun 18.

Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA.

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http://dx.doi.org/10.1111/dmcn.12511DOI Listing
November 2014

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases.

J Allergy Clin Immunol 2014 Apr 9;133(4):1208-11. Epub 2013 Dec 9.

Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.10.010DOI Listing
April 2014

Long-term outcome in pyridoxine-dependent epilepsy.

Dev Med Child Neurol 2012 Sep 13;54(9):849-54. Epub 2012 Jul 13.

Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04347.xDOI Listing
September 2012

Development of children with symptomatic intracranial hemorrhage born after vacuum extraction.

J Child Neurol 2013 Apr 29;28(4):520-3. Epub 2012 Jun 29.

Department of Pediatrics and Neonatal ICU, Máxima Medisch Centrum, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1177/0883073812446162DOI Listing
April 2013

Spontaneous perinatal epidural haemorrhage in a newborn.

BMJ Case Rep 2012 Feb 21;2012. Epub 2012 Feb 21.

Pediatrics Department, Maxima Medisch Centrum Veldhoven, Veldhoven, Netherlands.

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http://dx.doi.org/10.1136/bcr.09.2011.4735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291003PMC
February 2012

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

J Inherit Metab Dis 2012 Sep 17;35(5):909-16. Epub 2012 Jan 17.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9443-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432202PMC
September 2012

[A girl with rapidly progressive ataxia].

Ned Tijdschr Geneeskd 2011 ;155:A2166

Maxima Medisch Centrum, afd. Pediatrie en Neonatale IC, Veldhoven, the Netherlands.

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September 2011

Roth spots in pyridoxine dependent epilepsy.

BMJ Case Rep 2011 Aug 17;2011. Epub 2011 Aug 17.

Department of Pediatrics, Maxima Medisch Centrum Veldhoven, Veldhoven, Brabant, Netherlands.

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http://dx.doi.org/10.1136/bcr.05.2011.4209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171040PMC
August 2011

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Eur J Pediatr 2010 Mar 9;169(3):297-303. Epub 2009 Jul 9.

Department of Paediatrics, Máxima Medical Centre, P.O. Box 7777, 5500 MB, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1007/s00431-009-1020-2DOI Listing
March 2010

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Ann Neurol 2007 Oct;62(4):414-8

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ana.21206
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http://dx.doi.org/10.1002/ana.21206DOI Listing
October 2007

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Arch Dis Child 2007 Aug 6;92(8):687-9. Epub 2006 Nov 6.

Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1136/adc.2006.103192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083882PMC
August 2007