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ir. O.P.P. van den Briels

ir. O.P.P. van den Briels

Assistant Professor - medical

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Research Output (86)

Three-dimensional analysis of tooth dimensions in the MSX1-missense mutation.

Créton M.A., van den Boogaard M.J.H., Maal T., Verhamme L., Fennis W.M.M., Carels C., Kuijpers-Jagtman A.M., Cune M.S. 2013, In: Clinical Oral Investigations. 17 , p. 1437-1445 9 p.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Vergult S., van Binsbergen E., Sante T., Nowak S., Vanakker O, Claes K., Poppe B., van der Aa N., van Roosmalen M.J., Duran K.J., Tavakoli-Yaraki M., Swinkels M.E.M., van den Boogaard M.J.H., van Haelst M.M., Roelens F., Speleman F., Cuppen E.P.J.G., Mortier G., Kloosterman W.P., Menten B. 2013, In: European Journal of Human Genetics. 22 , p. 652-659 8 p.

Influence of prior sunlight exposure on ICU mortality - does delirium play a role?

Simons Koen, van den Boogaard Mark, Slooter Arjen, Pickkers Peter 16 Nov 2012, In: Critical Care. 16

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face

Ploos van Amstel J.K., Harakalová M., van den Boogaard M.J.H., Sinke R.J., van Lieshout S., van Tuil M., Duran K.J., Renkens I.J., Terhal P.A., de Kovel C.G.F., Nijman I.J., van Haelst M.M., Knoers V.V.A.M., van Haaften G.W., Kloosterman W.P., Hennekam R.C., Cuppen E.P.J.G. 6 Nov 2012,

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Harakalova M., van den Boogaard M.J.H., Sinke R., van Lieshout S., van Tuil M., Duran K.J., Renkens I.J., Terhal P.A., de Kovel C.G.F., Nijman I.J., van Haelst M.M., Knoers V.V.A.M., van Haaften G.W., Kloosterman W.P., Hennekam R.C.M., Cuppen E.P.J.G., Ploos van Amstel H.K. Aug 2012, In: Journal of Medical Genetics. 49 , p. 539-543 5 p.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face

Harakalova M., van den Boogaard M.J.H., Sinke R.J., van Lieshout S., van Tuil M., Duran K.J., Renkens I.J., Terhal P.A., de Kovel C.G.F., Nijman I.J., van Haelst M.M., Knoers Nine, van Haaften G.W., Kloosterman W.P., Hennekam R.C., Cuppen E.P.J.G., Ploos van Amstel J.K. 23 Jun 2012,

Mutations in WNT10A are present in more than half of isolated hypodontia cases

van den Boogaard M.J.H., Créton M.A., Bronkhorst Y., van Hout A.M., Hennekam F.A.M., Lindhout D., Cune M.S., Ploos van Amstel J.K. 23 Jun 2012,

The bedside diagnosis of ICU delirium:Specificity is high, let's optimize sensitivity

Van Eijk Maarten M., Slooter Arjen J., Van Den Boogaard Mark 1 Jan 2012, In: American Journal of Respiratory and Critical Care Medicine. 185 1 p.

Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: A national validation study

Rozendaal A.M., Luijsterburg A.J.M., Ongkosuwito E.M., van den Boogaard M.J.H., de Vries E., Hovius S.E.R., Vermeij-Keers Chr. 2012, In: Journal of Plastic, Reconstructive & Aesthetic Surgery. 65 , p. 780-790 11 p.

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Maarse W., Rozendaal A.M., Pajkrt E., Vermeij-Keers Chr., Mink van der Molen A.B., van den Boogaard M.J.H. 2012, In: Journal of Medical Genetics. 49 , p. 490-498 9 p.

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