Publications by authors named "Dietje E Fransen van de Putte"

7Publications

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Unfavourable cardiovascular disease risk profiles in a cohort of Dutch and British haemophilia patients.

Thromb Haemost 2013 Jan 8;109(1):16-23. Epub 2012 Nov 8.

Van Creveldkliniek, Department of Haematology, Postzone C01.425, University Medical Center Utrecht, PObox 85500, 3508 GA Utrecht, The Netherlands.

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http://www.thieme-connect.de/DOI/DOI?10.1160/TH12-05-0332
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http://dx.doi.org/10.1160/TH12-05-0332DOI Listing
January 2013

Increased prevalence of hypertension in haemophilia patients.

Thromb Haemost 2012 Oct 5;108(4):750-5. Epub 2012 Sep 5.

Van Creveldkliniek, Department of Haematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1160/TH12-05-0313DOI Listing
October 2012

History of non-fatal cardiovascular disease in a cohort of Dutch and British patients with haemophilia.

Eur J Haematol 2012 Oct 3;89(4):336-9. Epub 2012 Aug 3.

Van Creveldkliniek, Department of Haematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-0609.2012.01835.xDOI Listing
October 2012

Non-fatal cardiovascular disease, malignancies, and other co-morbidity in adult haemophilia patients.

Thromb Res 2012 Aug 30;130(2):157-62. Epub 2011 Dec 30.

Van Creveldkliniek, Department of Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.thromres.2011.12.012DOI Listing
August 2012