Search Results - "Hensels, G. W"

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A by Valentijn, L. J, Bolhuis, P. A, Zorn, I, Hoogendijk, J. E, van den Bosch, N, Hensels, G. W, Stanton, V. P, Housman, D. E, Fischbeck, K. H, Ross, D. A, Nicholson, G. A, Meershoek, E. J, Dauwerse, H. G, van Ommen, G. -J. B, Baas, F

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for…”
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Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 by BOLHUIS, P. A, HENSELS, G. W, HULEBOS, T. J. M, BAAS, F, BARTH, P. G

“…X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria is clinically characterized by congenital dilated cardiomyopathy, skeletal…”
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De-novo mutation in hereditary motor and sensory neuropathy type I by Hoogendijk, J E, Hensels, G W, Gabreëls-Festen, A A, Gabreëls, F J, Janssen, E A, de Jonghe, P, Martin, J J, van Broeckhoven, C, Valentijn, L J, Baas, F

“…Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal…”
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Genetic localization of Bethlem myopathy by JÖBSIS, G. J, BOLHUIS, P. A, BOERS, J. M, BAAS, F, WOLTERMAN, R. A, HENSELS, G. W, DE VISSER, M

“…Bethlem myopathy is a rare autosomal dominant myopathy characterized by slowly progressive limb-girdle muscular atrophy and weakness, and contractures of…”
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Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene by van Gool, W A, Hensels, G W, Hoogerwaard, E M, Wiezer, J H, Wesseling, P, Bolhuis, P A

“…The clinical features and disease course of six patients from a family with autosomal dominant inheritance of presenile dementia and a hypokinetic syndrome are…”
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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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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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Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a) by HOOGENDIJK, J. E, JANSSEN, E. A. M, DE VISSER, M, BOLHUIS, P. A, GABREËLS-FESTEN, A. A. W. M, HENSELS, G. W, JOOSTEN, E. M. G, GABREËLS, F. J. M, ZORN, I, VALENTIJN, L. J, BAAS, F, ONGERBOER DE VISSER, B. W

“…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…”
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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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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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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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Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot‐Marie‐Tooth disease type 1a) by 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., Ongerboer de Visser, B. W., de Visser, M., Bolhuis, P. A.

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Deletion of the serine 34 codon from the major peripheral myelin protein P sub(0) 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, FGI, de Visser, M, Hoogendijk, JE, Bass, F

“…Charcot-Marie-Tooth disease type 1B (CMT1B0 is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene P sub(0), has been cloned and…”
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