Search Results - "Hensels, Gerard W"

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) by KEMP, E. A. M. J. S, HENSELS, G. W, SIE, O. G, DE DIE-SMULDERS, C. E. M, HOOGENDIJK, J. E, DE VISSER, M, BOLHUIS, P. A

“…Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease…”
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Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B by Kulkens, T, Bolhuis, P A, Wolterman, R A, Kemp, S, te Nijenhuis, S, Valentijn, L J, Hensels, G W, Jennekens, F G, de Visser, M, Hoogendijk, J E

“…Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and…”
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Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A by Valentijn, L J, Baas, F, Zorn, I, Hensels, G W, de Visser, M, Bolhuis, P A

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Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a by Hensels, G W, Janssen, E A, Hoogendijk, J E, Valentijn, L J, Baas, F, Bolhuis, P A

“…Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication…”
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The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2 by HOOGENDIJK, J. E, HENSELS, G. W, ZORN, I, VALENTIJN, L, JANSSEN, E. A. M, DE VISSER, M, BARKER, D. F, ONGERBOER DE VISSER, B. W, BAAS, F, BOLHUIS, P. A

“…Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3,…”
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Deletion of the serine 34 codon from the major peripheral myelin protein P 0 gene in Charcot-Marie-Tooth disease type 1B by Valentijn, Linda J, Kulkens, Tanja, de Visser, Marianne, Baas, Frank, Kemp, Stephan, Hoogendijk, Jessica E, Bolhuis, Pieter A, Jennekens, Frans G.I, Wolterman, Ruud A, te Nijenhuis, Saskia, Hensels, Gerard W

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The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28 by Janssen, E A, Hensels, G W, van Oost, B A, Hamel, B C, Kemp, S, Baas, F, Weber, J W, Barth, P G, Bolhuis, P A

“…X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory…”
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