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Your search keyword '"Meijer, C. Arnoud"' showing total 8 results
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8 results on '"Meijer, C. Arnoud"'

1. Excess Mortality for Abdominal Aortic Aneurysms and the Potential of Strict Implementation of Cardiovascular Risk Management: A Multifaceted Study Integrating Meta-Analysis, National Registry, and PHAST and TEDY Trial Data

Author

Tomee, Stephanie M., primary, Bulder, Ruth M.A., additional, Meijer, C. Arnoud, additional, van Berkum, Ingrid, additional, Hinnen, Jan-Willem, additional, Schoones, Jan W., additional, Golledge, Jonathan, additional, Bastiaannet, Esther, additional, Matsumura, Jon S., additional, Hamming, Jaap F., additional, Hultgren, Rebecka, additional, and Lindeman, Jan H., additional

Published
2023
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3. Correlation of the tumour-stroma ratio with diffusion weighted MRI in rectal cancer

Author

Zunder, Stéphanie M., primary, Perez-Lopez, Raquel, additional, de Kok, Bente M., additional, Raciti, Maria Vittoria, additional, van Pelt, Gabi W., additional, Dienstmann, Rodrigo, additional, Garcia-Ruiz, Alonso, additional, Meijer, C. Arnoud, additional, Gelderblom, Hans, additional, Tollenaar, Rob. A., additional, Nuciforo, Paolo, additional, Wasser, Martin N., additional, and Mesker, Wilma. E., additional

Published
2020
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6. Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies.

Author

Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense‐Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., and Ahmad, Wasim

Abstract

Postaxial polydactyly (PAP) is one of the most common congenital malformations observed in the general population. However, it can also occur as part of a syndrome. Unbiased genetic screening techniques such as exome sequencing are highly appropriate methods to provide a molecular diagnosis in patients with polydactyly due to the large number of mutated genes associated with it. The present study describes a consanguineous family of Pakistani origin with PAP, speech impairment, hearing impairment of variable degree, and proportionate short stature with no prominent intellectual disability or ophthalmological abnormalities. One affected individual of the family was subjected to exome sequencing which resulted in the identification of four homozygous variants including an in-frame deletion (c.1115_1117del CCT; p.(Ser372del) in MKS1, which was later shown to be the only variant segregating with the phenotype. In silico predictions supported the potential pathogenicity of the identified mutation. Additional clinical tests and MRI features of a patient in the family showed a molar tooth sign, which is a hallmark of Joubert syndrome. In conclusion, we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1. [ABSTRACT FROM AUTHOR]

Published
2016
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7. A Clinical Evaluation of Statin Pleiotropy: Statins Selectively and Dose-Dependently Reduce Vascular Inflammation

Author

van der Meij, Evelien, primary, Koning, Giel G., additional, Vriens, Patrick W., additional, Peeters, Marcel F., additional, Meijer, C. Arnoud, additional, Kortekaas, Kim E., additional, Dalman, Ronald L., additional, van Bockel, J. Hajo, additional, Hanemaaijer, Roeland, additional, Kooistra, Teake, additional, Kleemann, Robert, additional, and Lindeman, Jan H. N., additional

Published
2013
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