Mathijssen, Irene M.J.

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsHedgehog Signaling Pathway Studies

Cited by 276

Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis

Mathijssen, I. M. J. (2015) · Journal of Craniofacial Surgery

Craniofacial Disorders and TreatmentsReconstructive Facial Surgery Techniques

Cited by 232

Updated Guideline on Treatment and Management of Craniosynostosis

Mathijssen, I. M. J. (2021) · Journal of Craniofacial Surgery

Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and Treatment

Cited by 140

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Twigg, S. R. F., Matsumoto, K., Kidd, A. M. J., Goriely, A., Taylor, I. B., Fisher, R. B., Hoogeboom, A. J. M., Mathijssen, I. M. J., Lourenço, M. T., Morton, J. E. V., et al. (2006) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 103

Spring-assisted correction of sagittal suture synostosis

van Veelen, M.-L. C., & Mathijssen, I. M. J. (2012) · Child s Nervous System

Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and Treatment

Cited by 84

Papilledema in Isolated Single-Suture Craniosynostosis: Prevalence and Predictive Factors

Florisson, J. M. G., van Veelen, M.-L. C., Bannink, N., van Adrichem, L. N. A., van der Meulen, J. J. N. M., Bartels, M. C., & Mathijssen, I. M. J. (2010) · Journal of Craniofacial Surgery

Craniofacial Disorders and TreatmentsCerebral Venous Sinus Thrombosis

Cited by 71

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 28

Prenatal ultrasound parameters in single-suture craniosynostosis

Cornelissen, M. J., Apon, I., van der Meulen, J. J. N. M., Groenenberg, I. A. L., Kraan – van der Est, M. N., Mathijssen, I. M. J., Bonsel, G. J., & Cohen – Overbeek, T. E. (2018) · The Journal of Maternal-Fetal & Neonatal Medicine

Craniofacial Disorders and TreatmentsFetal and Pediatric Neurological Disorders

Cited by 20

3D Analysis of the Cranial and Facial Shape in Craniosynostosis Patients: A Systematic Review

Kurniawan, M. S. I. C., Tio, P. A. E., Abdel Alim, T., Roshchupkin, G., Dirven, C. M. F., Pleumeekers, M. M., Mathijssen, I. M. J., & van Veelen, M.-L. C. (2024) · Journal of Craniofacial Surgery

Craniofacial Disorders and TreatmentsMorphological variations and asymmetry

Cited by 16