Marlies Kempers

Marlies Kempers

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Marlies Kempers

Marlies Kempers

Publications by authors named "Marlies Kempers"

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Karyotype - Phenotype Associations in Patients with Turner Syndrome.

Pediatr Endocrinol Rev 2019 Apr;16(4):431-440

Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud university medical centre, Nijmegen, The Netherlands, E-mail:

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http://dx.doi.org/10.17458/per.vol16.2019.nvt.karyotypeturnersyndromeDOI Listing
April 2019

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

Eur J Med Genet 2018 Jun 12;61(6):301-306. Epub 2018 Jan 12.

Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.004DOI Listing
June 2018

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Hum Mutat 2015 Aug 13;36(8):808-14. Epub 2015 Jun 13.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22802DOI Listing
August 2015

An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?

Hum Mutat 2014 May 7;35(5):571-4. Epub 2014 Apr 7.

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

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http://dx.doi.org/10.1002/humu.22540DOI Listing
May 2014

A dominant-negative GFI1B mutation in the gray platelet syndrome.

N Engl J Med 2014 Jan 10;370(3):245-53. Epub 2013 Dec 10.

From the Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen Center for Molecular Life Sciences (D.M., A.E.M., S.M.B., H.V., G.H., F.P., W.V.H., J.H.J., B.A.V.R.) and the Departments of Pathology (K.M.H., B.W.), Hematology (B.A.P.L.G., M.A.M., G.H.), Cardiology (A.L.D.), and Human Genetics (S.S., M.J.E.K.), Radboud University Medical Center - all in Nijmegen, the Netherlands; the Department of Medical Genetics, Antwerp University Hospital and University of Antwerp (N.A.B., E.F., G.V.C., B.L.L., L.V.L.) and the Statua Center for Statistics, University of Antwerp (E.F.), Antwerp, Belgium; and the Department of Hematology, University Hospital, Essen, Germany (C.K., L.B.).

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http://dx.doi.org/10.1056/NEJMoa1308130DOI Listing
January 2014

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome.

Genet Med 2013 Jul 10;15(7):528-32. Epub 2013 Jan 10.

Department of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/gim.2012.172DOI Listing
July 2013

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Orphanet J Rare Dis 2013 Feb 25;8:36. Epub 2013 Feb 25.

Service de Dermatologie - Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008PMC
February 2013

Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening.

J Dev Behav Pediatr 2012 Oct;33(8):633-40

Psychosocial Department, Emma Children's Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/DBP.0b013e3182690727DOI Listing
October 2012

Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening.

Child Adolesc Psychiatry Ment Health 2012 Oct 3;6(1):32. Epub 2012 Oct 3.

Pediatric Psychosocial Department, Emma Children's Hospital AMC, A3-241, P,O, Box 22700,, 1100,, DE, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1753-2000-6-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520758PMC
October 2012

Morphological abnormalities in children with thyroidal congenital hypothyroidism.

Am J Med Genet A 2009 May;149A(5):943-51

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32777DOI Listing
May 2009

Loss of integrity of thyroid morphology and function in children born to mothers with inadequately treated Graves' disease.

J Clin Endocrinol Metab 2007 Aug 15;92(8):2984-91. Epub 2007 May 15.

Academic Medical Center, University of Amsterdam, G8-205, Emma Children's Hospital Academic Medical Center, Department of Pediatric Endocrinology, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2006-2042DOI Listing
August 2007

Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age.

J Clin Endocrinol Metab 2007 Mar 12;92(3):919-24. Epub 2006 Dec 12.

Department of Pediatric Endocrinology, Emma Children's Hospital Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2006-1538DOI Listing
March 2007

Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin.

Thyroid 2006 Jul;16(7):671-80

Departments of Pediatric Endocrinology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1089/thy.2006.16.671DOI Listing
July 2006

Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed.

J Clin Endocrinol Metab 2003 Dec;88(12):5851-7

Academic Medical Center, Emma Children's Hospital, Department of Pediatric Endocrinology, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2003-030665DOI Listing
December 2003

Dynamics of the plasma concentrations of TSH, FT4 and T3 following thyroxine supplementation in congenital hypothyroidism.

Clin Endocrinol (Oxf) 2002 Oct;57(4):529-37

Academic Medical Center, Division of Pediatric Endocrinology, Emma Children's Hospital AMC, University of Amsterdam, G8-220, 1100 DD Amsterdam, the Netherlands.

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http://dx.doi.org/10.1046/j.1365-2265.2002.01632.xDOI Listing
October 2002

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

N Engl J Med 2002 Jul;347(2):95-102

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam.

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http://dx.doi.org/10.1056/NEJMoa012752DOI Listing
July 2002