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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)

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array-based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., de Jonge M.V., Staal W.G., Vorstman J.A.S., Ippel P.F., van den Boogaard M.J.H., Terhal P.A., Beemer F.A., van der Smagt J.J., Brilstra E.H., Visser G., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach R. 31 May 2008, p. 135 1 p.

Novel inherited and de novo loci for autism in patients with additional mental retardation and significant co-morbidity

Poot M., Ozgen M.H., van Daalen E., Verbeek N.E., de Jonge M.V., Brilstra E.H., van den Boogaard M.J.H., Terhal P.A., Ippel P.F., Beemer F.A., Kroes H.Y., van der Smagt J.J., van ´t Slot R., Nelen M.R., van Binsbergen E., Visser G., Rump P., Dijkhuizen T., Vorstman J.A.S., Jalali G.R., Emanuel B.S., van der Zwaag B., Burbach J.P.H., Staal W.G., van Engeland H., Ploos van Amstel J.K., Hochstenbach R. 31 May 2008,

MSX1 and partial anodontia, orofacial clefting and the Witkop syndrome

van den Boogaard M.J.H. 2008, p. 557-567 11 p.

Ectrodactyly with fibular aplasia: a separate entity?

Menke L.A., Bijlsma E.K., van Essen A.J., van den Boogaard M.J.H., van Rijn R.R., Cobben J.M. 2008, In: European Journal of Medical Genetics. 51 , p. 488-496 9 p.

The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts

van den Boogaard M.J.H., de Costa D., Krapels I.P.C., Liu F., van Duijn C., Sinke R.J., Lindhout D., Steegers-Theunissen R.P.M. 2008, In: Human Genetics. 124 , p. 525-534 10 p.

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Jalali G.R., Emmanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 23 Oct 2007,

SNP array based segmental aneuploidy screening reveals frequent 22q11 duplications in patients with non-syndromic autism spectrum disorders

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Terhal P.A., Visser G., Jalali G.R., Emanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 23 Oct 2007,

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Jalali G.R., Emmanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 22 Oct 2007,

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Jalali G.R., Emmanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 2007, p. 374 1 p.

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

Bliek J., Terhal P.A., van den Boogaard M.J.H., Maas S., Hamel B., Salieb-Beugelaar G., Simon M., Letteboer T.G.W., van der Smagt J.J., Kroes H.Y., Mannens M. 2006, In: American Journal of Human Genetics. 78 , p. 604-614 11 p.

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