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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)

Etiology and pathogenesis of robin sequence in a large Dutch cohort

Basart Hanneke, Paes Emma C., Maas Saskia M., van den Boogaard Marie Jose H, van Hagen Johanna M., Breugem Corstiaan C., Cobben Jan Maarten, Griot J. Peter W Don, Lachmeijer Augusta M A, Lichtenbelt Klaske D., van Nunen DPF, van der Horst Chantal M., Hennekam Raoul C. 1 Jan 2015, In: American Journal of Medical Genetics. Part A. 167 , p. 1983-1992 10 p.

Birth prevalence of Robin sequence in the Netherlands from 2000-2010:A retrospective population-based study in a large Dutch cohort and review of the literature

Paes Emma C., van Nunen Daan P F, Basart Hanneke, Don Griot J. Peter W, van Hagen Johanna M., van der Horst Chantal M A M, van den Boogaard Marie José H, Breugem Corstiaan C. 1 Jan 2015, In: American Journal of Medical Genetics. Part A. 167 , p. 1972-1982 11 p.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability:expanding the mutational and clinical spectrum

Kuechler Alma, Willemsen Marjolein H., Albrecht Beate, Bacino Carlos A., Bartholomew Dennis W., van Bokhoven Hans, van den Boogaard Marie Jose H., Bramswig Nuria, Buettner Christian, Cremer Kirsten, Czeschik Johanna Christina, Engels Hartmut, van Gassen Koen, Graf Elisabeth, van Haelst Mieke, He Weimin, Hogue Jacob S., Kempers Marlies, Koolen David, Monroe Glen, de Munnik Sonja, Pastore Matthew, Reis Andre, Reuter Miriam S., Tegay David H., Veltman Joris, Visser Gepke, van Hasselt Peter, Smeets Eric E. J., Vissers Lisenka, Wieland Thomas, Wissink Willemijn, Yntema Helger, Zink Alexander Michael, Strom Tim M., Luedecke Hermann-Josef, Kleefstra Tjitske, Wieczorek Dagmar Jan 2015, In: Human Genetics. 134 , p. 97-109 13 p.

De Klinisch geneticus

van den Boogaard MJH 2015, p. 40 41 p.

Microtia in the Netherlands:clinical characteristics and associated anomalies

van Nunen Daan P F , Kolodzynski Mischka N, van den Boogaard Marie-José H, Kon Moshe, Breugem Corstiaan C Jun 2014, In: International Journal of Pediatric Otorhinolaryngology. 78 , p. 954-959 6 p.

Phenotype and genotype in Nicolaides-Baraitser syndrome

Sousa Sérgio B., Hennekam Raoul C., Abdul-Rahman Omar, Alders Marielle, Azzarello-Burri Silvia, Bottani Armand, Bowdin Sarah, Castori Marco, Cormier-Daire Valerie, Deardorff Matthew, Del Campo Casanelles Miquel, Devriendt Koenraad, Fauth Christine, Filges Isabel, Fryer Alan, Garavelli Livia, Gillessen-Kaesback Gabriele, Hall Bryan, Hirofumi Ohasi, Holder Susan, Hoyer Juliane, Jenkins Lucy, Klapeki Jacub, Krajewska-Walasek Malgorzata, Kosho Tomoki, Kuechler Alma, MacDermot Kay, Magee Alex, Mari Francesca, Mathieu-Dramard Michele, Napier Melanie, Pérez-Jurado Luis A., Picard Fanny Morice, Morin Gilles, Murday Victoria, Pilch Jacek, Ronan Anne, Rosser Elizabeth, Santen Gijs W.E., Scott Richard, Selicorni Angelo, Shannon Nora, Santos-Simarro Fernando, Stewart Helen, van den Boogaard Marie Jose, Vilain Catheline, Vermeesch Joris, Vogels Annick, Wakeling Emma, Wieczorek Dagmar, 1 Jan 2014, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166 , p. 302-314 13 p.

Reaction to:Persson et al. Educational achievements in Pierre Robin sequence. J Plast Surg Hand Surg 2013;47(1):36-9

van Nunen D.P.F., Filip C., Feragen K.J.B., van den Boogaard M.J.H., Breugem C.C. 2014, In: Journal of Plastic Surgery and Hand Surgery. 48 , p. 287-288 2 p.

Elevated Infant Mortality Rate among Dutch Oral Cleft Cases: A Retrospective Analysis from 1997 to 2011

van Nunen D.P., van den Boogaard M.J.H., Don Griot J.P., Rüttermann M., van der Veken L.T.J.N., Breugem C.C. 2014, In: Frontiers in Genetics [E]. 1

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, 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. 10 Apr 2013,

MSX1 in relation to clefting. hypodontia and hydrocephaly in humans

van den Boogaard M.J.H. 29 Jan 2013, 270 p.

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