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Your search keyword '"Janssen, E. A.M."' showing total 3 results
Start Over Author "Janssen, E. A.M."
3 results on '"Janssen, E. A.M."'

1. Psychiatrische symptomen en COVID-19: resultaten uit een landelijk register

Author

AIOS Psychiatrie, Brain, Opleiding Neurologie, Onderzoek, van Dee, V., Janssen, E. A.M., Blom, R. M., Cahn, W., van Mierlo, H. C., Mihaescu, R., van Wullften Palthe, J., Zijlstra, R., Kok, R. M., Everaerd, D. S., Schellekens, A., oviP-Consortium, C., AIOS Psychiatrie, Brain, Opleiding Neurologie, Onderzoek, van Dee, V., Janssen, E. A.M., Blom, R. M., Cahn, W., van Mierlo, H. C., Mihaescu, R., van Wullften Palthe, J., Zijlstra, R., Kok, R. M., Everaerd, D. S., Schellekens, A., and oviP-Consortium, C.

Published
2022

3. Allelic heterogeneity in hereditary motor and sensory neuropathy type la CharcotMarieTooth disease type 1a

Author

Hoogendijk, J. E., Janssen, E. A.M., Gabreëls-Festen, A. A.W.M., Hensels, G. W., Joosten, E. M.G., Gabreëls, F. J.M., Zorn, I., Valentijn, L. J., Baas, F., Visser, B. W. Ongerboer de, de Visser, M., and Bolhuis, P. A.

Abstract

The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN la locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene.

Published
1993

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