Yvonne Hilhorst-Hofstee

Yvonne Hilhorst-Hofstee

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Yvonne Hilhorst-Hofstee

Yvonne Hilhorst-Hofstee

Publications by authors named "Yvonne Hilhorst-Hofstee"

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 Mar 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β.

J Clin Endocrinol Metab 2019 Aug;104(8):3491-3500

Department of Internal Medicine, Erasmus Medical Center, Academic Center for Thyroid Diseases, Rotterdam, Netherlands.

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http://dx.doi.org/10.1210/jc.2018-02794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599431PMC
August 2019

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

Higher Incidence of Hypospadias in Monochorionic Twins.

Twin Res Hum Genet 2015 Oct 14;18(5):591-4. Epub 2015 Aug 14.

Division of Neonatology,Department of Pediatrics,Leiden University Medical Center,Leiden,The Netherlands.

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http://dx.doi.org/10.1017/thg.2015.55DOI Listing
October 2015

[Multidisciplinary practice guideline 'Marfan syndrome'].

Ned Tijdschr Geneeskd 2013 ;157(50):A6658

*Namens de werkgroep 'Landelijke multidisciplinaire richtlijn Marfan syndroom' waarvan de leden aan het eind van dit artikel worden genoemd.

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August 2014

Rapid aortic aneurysm formation in Marfan patient with dissection of the entire aorta.

Eur Heart J Cardiovasc Imaging 2013 May 5;14(5):507. Epub 2012 Dec 5.

Department of Cardiology, Leiden University Medical Center, PO Box 9600, Albinusdreef 2, Leiden, The Netherlands.

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https://academic.oup.com/ehjcimaging/article-lookup/doi/10.1
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http://dx.doi.org/10.1093/ehjci/jes289DOI Listing
May 2013

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Am J Med Genet A 2013 May 13;161A(5):973-6. Epub 2013 Mar 13.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.35808
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35808DOI Listing
May 2013

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

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

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http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Eur J Med Genet 2010 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.003DOI Listing
January 2011

Identification of copy number variants associated with BPES-like phenotypes.

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-008-0574-9DOI Listing
December 2008

Intracranial hypertension in 2 children with marfan syndrome.

J Child Neurol 2008 Aug 19;23(8):954-5. Epub 2008 Mar 19.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1177/0883073808315341DOI Listing
August 2008